GenomeNet

Database: UniProt
Entry: HNF1A_HUMAN
LinkDB: HNF1A_HUMAN
Original site: HNF1A_HUMAN 
ID   HNF1A_HUMAN             Reviewed;         631 AA.
AC   P20823; A5Z2R8; E0YMJ5; E0YMK0; E0YMK1; E2I9R4; E2I9R5; F5H5U3;
AC   Q2M3H2; Q99861;
DT   01-FEB-1991, integrated into UniProtKB/Swiss-Prot.
DT   16-AUG-2004, sequence version 2.
DT   03-SEP-2014, entry version 182.
DE   RecName: Full=Hepatocyte nuclear factor 1-alpha;
DE            Short=HNF-1-alpha;
DE            Short=HNF-1A;
DE   AltName: Full=Liver-specific transcription factor LF-B1;
DE            Short=LFB1;
DE   AltName: Full=Transcription factor 1;
DE            Short=TCF-1;
GN   Name=HNF1A; Synonyms=TCF1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
RC   TISSUE=Liver;
RX   PubMed=1707031; DOI=10.1016/0888-7543(90)90238-P;
RA   Bach I., Galcheva-Gargova Z., Mattei M.-G., Simon-Chazottes D.,
RA   Guenet J.-L., Cereghini S., Yaniv M.;
RT   "Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal
RT   localization of its gene in man and mouse.";
RL   Genomics 8:155-164(1990).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), AND ALTERNATIVE SPLICING.
RC   TISSUE=Liver;
RX   PubMed=7900999;
RA   Bach I., Yaniv M.;
RT   "More potent transcriptional activators or a transdominant inhibitor
RT   of the HNF1 homeoprotein family are generated by alternative RNA
RT   processing.";
RL   EMBO J. 12:4229-4242(1993).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MODY3 LEU-447.
RX   PubMed=8945470; DOI=10.1038/384455a0;
RA   Yamagata K., Oda N., Kaisaki P.J., Menzel S., Furuta H.,
RA   Vaxillaire M., Southam L., Cox R.D., Lathrop G.M., Boriraj V.V.,
RA   Chen X., Cox N.J., Oda Y., Yano H., le Beau M.M., Yamada S.,
RA   Nishigori H., Takeda J., Fajans S.S., Hattersley A.T., Iwasaki N.,
RA   Hansen T., Pedersen O., Polonsky K.S., Turner R.C., Velho G.,
RA   Chevre J.-C., Froguel P., Bell G.I.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-
RT   onset diabetes of the young (MODY3).";
RL   Nature 384:455-458(1996).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6).
RA   Yang C.-W., Tsai D.-Y.;
RT   "Homo sapiens HNF1 alpha B mRNA splicing variants.";
RL   Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), AND VARIANT SER-574.
RA   Gonzalez Ruano E., Gonzalez Sarmiento R.;
RT   "New isoforms in HNF1A.";
RL   Submitted (JUN-2010) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LEU-27; VAL-98;
RP   ASN-487 AND SER-574.
RG   SeattleSNPs variation discovery resource;
RL   Submitted (MAY-2007) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16541075; DOI=10.1038/nature04569;
RA   Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA   Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA   Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA   Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA   Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA   Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA   Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA   Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA   Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA   Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA   Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA   Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA   Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA   Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA   Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA   Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA   Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA   Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA   Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA   Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA   Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA   Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA   Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA   Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA   Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA   Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA   Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA   Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA   Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA   Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA   Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA   Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA   Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA   Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA   Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA   Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA   Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA   Kucherlapati R., Weinstock G., Gibbs R.A.;
RT   "The finished DNA sequence of human chromosome 12.";
RL   Nature 440:346-351(2006).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [9]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-27.
RC   TISSUE=Liver;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [10]
RP   X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 85-278 IN COMPLEX WITH DNA,
RP   FUNCTION, DNA-BINDING, MUTAGENESIS OF ASN-127; GLU-132; PHE-177;
RP   ILE-186; THR-190; ASN-202; VAL-246 AND ASN-257, AND CHARACTERIZATION
RP   OF VARIANTS MODY3 PHE-142 AND GLN-205.
RX   PubMed=12453420; DOI=10.1016/S1097-2765(02)00704-9;
RA   Chi Y.I., Frantz J.D., Oh B.C., Hansen L., Dhe-Paganon S.,
RA   Shoelson S.E.;
RT   "Diabetes mutations delineate an atypical POU domain in HNF-1alpha.";
RL   Mol. Cell 10:1129-1137(2002).
RN   [11]
RP   X-RAY CRYSTALLOGRAPHY (1.4 ANGSTROMS) OF 2-32, AND CIRCULAR DICHROISM.
RX   PubMed=16930618; DOI=10.1016/j.jmb.2006.06.086;
RA   Narayana N., Phillips N.B., Hua Q.X., Jia W., Weiss M.A.;
RT   "Diabetes mellitus due to misfolding of a beta-cell transcription
RT   factor: stereospecific frustration of a Schellman motif in HNF-
RT   1alpha.";
RL   J. Mol. Biol. 362:414-429(2006).
RN   [12]
RP   VARIANTS MODY3 ARG-107; TRP-131; MET-260 AND HIS-272.
RX   PubMed=9166684; DOI=10.2337/diab.46.6.1081;
RA   Glucksmann M.A., Lehto M., Tayber O., Scotti S., Berkemeier L.,
RA   Pulido J.C., Wu Y., Nir W.-J., Fang L., Markel P., Munnelly K.D.,
RA   Goranson J., Orho M., Young B.M., Whitacre J.L., McMenimen C.,
RA   Wantman M., Tuomi T., Warram J., Forsblom C.M., Carlsson M.,
RA   Rosenzweig J., Kennedy G., Duyk G.M., Krolewski A.S., Groop L.C.,
RA   Thomas J.D.;
RT   "Novel mutations and a mutational hotspot in the MODY3 gene.";
RL   Diabetes 46:1081-1086(1997).
RN   [13]
RP   VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263, AND VARIANT NIDDM
RP   ASP-191.
RX   PubMed=9287053; DOI=10.2337/diab.46.9.1504;
RA   Iwasaki N., Oda N., Ogata M., Hara M., Hinokio Y., Oda Y.,
RA   Yamagata K., Kanematsu S., Ohgawara H., Omori Y., Bell G.I.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in
RT   Japanese subjects with early- and late-onset NIDDM.";
RL   Diabetes 46:1504-1508(1997).
RN   [14]
RP   VARIANT NIDDM MET-254, AND VARIANTS LEU-27 AND ASN-487.
RX   PubMed=9287055; DOI=10.2337/diab.46.9.1512;
RA   Yamada S., Nishigori H., Onda H., Takahashi K., Kitano N.,
RA   Morikawa A., Takeuchi T., Takeda J.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are
RT   not a major cause of late-onset NIDDM in Japanese subjects.";
RL   Diabetes 46:1512-1513(1997).
RN   [15]
RP   VARIANTS IDDM20 HIS-272 AND GLY-583.
RX   PubMed=9313763; DOI=10.2337/diacare.46.10.1643;
RA   Yamada S., Nishigori H., Onda H., Utsugi T., Yanagawa T., Maruyama T.,
RA   Onigata K., Nagashima K., Nagai R., Morikawa A., Takeuchi T.,
RA   Takeda J.;
RT   "Identification of mutations in the hepatocyte nuclear factor (HNF)-1-
RT   alpha gene in Japanese subjects with IDDM.";
RL   Diabetes 46:1643-1647(1997).
RN   [16]
RP   VARIANTS MODY3, AND VARIANT ATYPICAL DIABETES SER-574.
RX   PubMed=9392505; DOI=10.2337/diab.46.12.2108;
RA   Boutin P., Chevre J.-C., Hani E.H., Gomis R., Pardini V.C.,
RA   Guillausseau P.-J., Vaxillaire M., Velho G., Froguel P.;
RT   "An automated fluorescent single-strand conformation polymorphism
RT   technique for screening mutations in the hepatocyte nuclear factor-
RT   1alpha gene (maturity-onset diabetes of the young).";
RL   Diabetes 46:2108-2109(1997).
RN   [17]
RP   VARIANTS MODY3 GLN-131; GLN-229; GLY-241 AND HIS-272.
RX   PubMed=9032114; DOI=10.2337/diab.46.3.528;
RA   Kaisaki P.J., Menzel S., Lindner T., Oda N., Rjasanowski I., Sahm J.,
RA   Meincke G., Schulze J., Schmechel H., Petzold C., Ledermann H.M.,
RA   Sachse G., Boriraj V.V., Menzel R., Kerner W., Turner R.C.,
RA   Yamagata K., Bell G.I.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and
RT   early-onset NIDDM: evidence for a mutational hotspot in exon 4.";
RL   Diabetes 46:528-535(1997).
RN   [18]
RP   VARIANTS MODY3 THR-129; TRP-131; TRP-159; LEU-519 AND ILE-620.
RX   PubMed=9075818; DOI=10.2337/diab.46.4.720;
RA   Frayling T.M., Bulman M.P., Ellard S., Appleton M., Dronsfield M.J.,
RA   Mackie A.D., Baird J.D., Kaisaki P.J., Yamagata K., Bell G.I.,
RA   Bain S.C., Hattersley A.T.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha gene are a common
RT   cause of maturity-onset diabetes of the young in the U.K.";
RL   Diabetes 46:720-725(1997).
RN   [19]
RP   VARIANTS MODY3 ASN-128; TYR-143 AND LEU-447.
RX   PubMed=9075819; DOI=10.2337/diab.46.4.726;
RA   Hansen T., Eiberg H., Rouard M., Vaxillaire M., Moeller A.M.,
RA   Rasmussen S.K., Fridberg M., Urhammer S.A., Holst J.J., Almind K.,
RA   Echwald S.M., Hansen L., Bell G.I., Pedersen O.;
RT   "Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene:
RT   evidence for a hyperexcitability of pancreatic beta-cells to
RT   intravenous secretagogues in a glucose-tolerant carrier of a P447L
RT   mutation.";
RL   Diabetes 46:726-730(1997).
RN   [20]
RP   VARIANTS LEU-27; VAL-98 AND ASN-487.
RX   PubMed=9133564; DOI=10.2337/diab.46.5.912;
RA   Urhammer S.A., Fridberg M., Hansen T., Rasmussen S.K., Moeller A.M.,
RA   Clausen J.O., Pedersen O.;
RT   "A prevalent amino acid polymorphism at codon 98 in the hepatocyte
RT   nuclear factor-1alpha gene is associated with reduced serum C-peptide
RT   and insulin responses to an oral glucose challenge.";
RL   Diabetes 46:912-916(1997).
RN   [21]
RP   VARIANT NIDDM GLN-583, AND VARIANTS LEU-27; VAL-98 AND ASN-487.
RX   PubMed=9112026; DOI=10.1007/s001250050703;
RA   Urhammer S.A., Rasmussen S.K., Kaisaki P.J., Oda N., Yamagata K.,
RA   Moeller A.M., Fridberg M., Hansen L., Hansen T., Bell G.I.,
RA   Pedersen O.;
RT   "Genetic variation in the hepatocyte nuclear factor-1 alpha gene in
RT   Danish Caucasians with late-onset NIDDM.";
RL   Diabetologia 40:473-475(1997).
RN   [22]
RP   VARIANTS MODY3 CYS-122; PHE-142 AND GLN-159.
RX   PubMed=9097962; DOI=10.1093/hmg/6.4.583;
RA   Vaxillaire M., Rouard M., Yamagata K., Oda N., Kaisaki P.J.,
RA   Boriraj V.V., Chevre J.-C., Boccio V., Cox R.D., Lathrop G.M.,
RA   Dussoix P., Philippe J., Timsit J., Charpentier G., Velho G.,
RA   Bell G.I., Froguel P.;
RT   "Identification of nine novel mutations in the hepatocyte nuclear
RT   factor 1 alpha gene associated with maturity-onset diabetes of the
RT   young (MODY3).";
RL   Hum. Mol. Genet. 6:583-586(1997).
RN   [23]
RP   VARIANTS LEU-27; ASN-487 AND ARG-514.
RX   PubMed=9604876; DOI=10.2337/diabetes.47.6.967;
RA   Behn P.S., Wasson J., Chayen S., Smolovitch I., Thomas J.D.,
RA   Glaser B., Permutt M.A.;
RT   "Hepatocyte nuclear factor 1alpha coding mutations are an uncommon
RT   contributor to early-onset type 2 diabetes in Ashkenazi Jews.";
RL   Diabetes 47:967-969(1998).
RN   [24]
RP   VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271.
RX   PubMed=9754819; DOI=10.1007/s001250051025;
RA   Chevre J.-C., Hani E.H., Boutin P., Vaxillaire M., Blanche H.,
RA   Vionnet N., Pardini V.C., Timsit J., Larger E., Charpentier G.,
RA   Beckers D., Maes M., Bellanne-Chantelot C., Velho G., Froguel P.;
RT   "Mutation screening in 18 Caucasian families suggest the existence of
RT   other MODY genes.";
RL   Diabetologia 41:1017-1023(1998).
RN   [25]
RP   VARIANTS IDDM20 LYS-48 AND GLY-241.
RX   PubMed=9867222; DOI=10.1007/s001250051101;
RA   Moeller A.M., Dalgaard L.T., Pociot F., Nerup J., Hansen T.,
RA   Pedersen O.;
RT   "Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian
RT   families originally classified as having type I diabetes.";
RL   Diabetologia 41:1528-1531(1998).
RN   [26]
RP   VARIANTS MODY3 ARG-537 AND LYS-619.
RX   PubMed=9626139; DOI=10.1210/jc.83.6.2059;
RA   Elbein S.C., Teng K., Yount P., Scroggin E.;
RT   "Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear
RT   factor-1 alpha gene in typical familial type 2 diabetes: evidence for
RT   novel mutations in exons 8 and 10.";
RL   J. Clin. Endocrinol. Metab. 83:2059-2065(1998).
RN   [27]
RP   VARIANTS LEU-27 AND ASN-487.
RX   PubMed=9621514; DOI=10.1007/s100380050049;
RA   Nishigori H., Yamada S., Kohama T., Utsugi T., Shimizu H.,
RA   Takeuchi T., Takeda J.;
RT   "Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are
RT   not a major cause of early-onset non-insulin-dependent 'type 2'
RT   diabetes mellitus in Japanese.";
RL   J. Hum. Genet. 43:107-110(1998).
RN   [28]
RP   VARIANTS MODY3 HIS-12; ASN-158; GLN-159 AND CYS-203.
RX   PubMed=10078571; DOI=10.2337/diabetes.48.3.645;
RA   Yamada S., Tomura H., Nishigori H., Sho K., Mabe H., Iwatani N.,
RA   Takumi T., Kito Y., Moriya N., Muroya K., Ogata T., Onigata K.,
RA   Morikawa A., Inoue I., Takeda J.;
RT   "Identification of mutations in the hepatocyte nuclear factor-1alpha
RT   gene in Japanese subjects with early-onset NIDDM and functional
RT   analysis of the mutant proteins.";
RL   Diabetes 48:645-648(1999).
RN   [29]
RP   VARIANTS MODY3 GLU-117 AND TYR-143.
RX   PubMed=10102714; DOI=10.2337/diabetes.48.4.921;
RA   Ellard S., Bulman M.P., Frayling T.M., Allen L.I.S., Dronsfield M.J.,
RA   Tack C.J., Hattersley A.T.;
RT   "Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha
RT   gene hinders the identification of mutations in three families with
RT   maturity-onset diabetes of the young.";
RL   Diabetes 48:921-923(1999).
RN   [30]
RP   VARIANT NIDDM CYS-272, AND VARIANT IDDM20 ARG-415.
RX   PubMed=10333057; DOI=10.1007/s001250051204;
RA   Yoshiuchi I., Yamagata K., Yang Q., Iwahashi H., Okita K.,
RA   Yamamoto K., Oue T., Imagawa A., Hamaguchi T., Yamasaki T.,
RA   Horikawa Y., Satoh T., Nakajima H., Miyazaki J., Higashiyama S.,
RA   Miyagawa J., Namba M., Hanafusa T., Matsuzawa Y.;
RT   "Three new mutations in the hepatocyte nuclear factor-1alpha gene in
RT   Japanese subjects with diabetes mellitus: clinical features and
RT   functional characterization.";
RL   Diabetologia 42:621-626(1999).
RN   [31]
RP   VARIANTS MODY3 ARG-20; HIS-203; CYS-432 AND MET-618.
RX   PubMed=10588527; DOI=10.1046/j.1464-5491.1999.00188.x;
RA   Ng M.C.Y., Cockburn B.N., Lindner T.H., Yeung V.T.F., Chow C.-C.,
RA   So W.-Y., Li J.K.Y., Lo Y.M.D., Lee Z.S.K., Cockram C.S.,
RA   Critchley J.A.J.H., Bell G.I., Chan J.C.N.;
RT   "Molecular genetics of diabetes mellitus in Chinese subjects:
RT   identification of mutations in glucokinase and hepatocyte nuclear
RT   factor-1alpha genes in patients with early-onset type 2 diabetes
RT   mellitus/MODY.";
RL   Diabet. Med. 16:956-963(1999).
RN   [32]
RP   VARIANT MODY3 ILE-620.
RX   PubMed=10482964; DOI=10.1038/sj.ejhg.5200358;
RA   Miedzybrodzka Z., Hattersley A.T., Ellard S., Pearson D., de Silva D.,
RA   Harvey R., Haites N.;
RT   "Non-penetrance in a MODY 3 family with a mutation in the hepatic
RT   nuclear factor 1alpha gene: implications for predictive testing.";
RL   Eur. J. Hum. Genet. 7:729-732(1999).
RN   [33]
RP   VARIANT SER-319.
RX   PubMed=10084598; DOI=10.1210/jc.84.3.1077;
RA   Hegele R.A., Cao H., Harris S.B., Hanley A.J.G., Zinman B.;
RT   "The hepatic nuclear factor-1alpha G319S variant is associated with
RT   early-onset type 2 diabetes in Canadian Oji-Cree.";
RL   J. Clin. Endocrinol. Metab. 84:1077-1082(1999).
RN   [34]
RP   CHARACTERIZATION OF VARIANTS MODY3 HIS-12; ARG-20 AND ASP-31,
RP   FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH PCBD1.
RX   PubMed=10966642; DOI=10.1038/78966;
RA   Rose R.B., Bayle J.H., Endrizzi J.A., Cronk J.D., Crabtree G.R.,
RA   Alber T.;
RT   "Structural basis of dimerization, coactivator recognition and MODY3
RT   mutations in HNF-1alpha.";
RL   Nat. Struct. Biol. 7:744-748(2000).
RN   [35]
RP   INVOLVEMENT IN HEPATIC ADENOMAS, AND VARIANTS TYR-127; CYS-165;
RP   CYS-206; LEU-206; SER-237; GLY-244; PRO-250; CYS-268; GLU-273; SER-574
RP   AND GLN-583.
RX   PubMed=12355088; DOI=10.1038/ng1001;
RA   Bluteau O., Jeannot E., Bioulac-Sage P., Marques J.M., Blanc J.-F.,
RA   Bui H., Beaudoin J.-C., Franco D., Balabaud C., Laurent-Puig P.,
RA   Zucman-Rossi J.;
RT   "Bi-allelic inactivation of TCF1 in hepatic adenomas.";
RL   Nat. Genet. 32:312-315(2002).
RN   [36]
RP   VARIANT [LARGE SCALE ANALYSIS] GLU-273.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Transcriptional activator that regulates the tissue
CC       specific expression of multiple genes, especially in pancreatic
CC       islet cells and in liver. Required for the expression of several
CC       liver specific genes. Binds to the inverted palindrome 5'-
CC       GTTAATNATTAAC-3'.
CC   -!- SUBUNIT: Binds DNA as a dimer. Interacts with PCBD1.
CC       Heterotetramer with PCBD1; formed by a dimer of dimers.
CC   -!- INTERACTION:
CC       Q9Y463:DYRK1B; NbExp=4; IntAct=EBI-636034, EBI-634187;
CC       Q92786:PROX1; NbExp=3; IntAct=EBI-636034, EBI-3912635;
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=8;
CC       Name=A;
CC         IsoId=P20823-1; Sequence=Displayed;
CC       Name=B;
CC         IsoId=P20823-2; Sequence=VSP_002250, VSP_002251;
CC       Name=C;
CC         IsoId=P20823-3; Sequence=VSP_002252, VSP_002253;
CC       Name=4;
CC         IsoId=P20823-4; Sequence=VSP_047736, VSP_047739;
CC       Name=5;
CC         IsoId=P20823-5; Sequence=VSP_047737, VSP_047738;
CC       Name=6;
CC         IsoId=P20823-6; Sequence=VSP_053324, VSP_053325, VSP_053326;
CC       Name=7; Synonyms=insIVS8;
CC         IsoId=P20823-7; Sequence=VSP_054302;
CC         Note=Due to intron retention. Ref.5 (ADK56177) sequence is in
CC         conflict in position: 551:L->S;
CC       Name=8; Synonyms=delta 2;
CC         IsoId=P20823-8; Sequence=VSP_054300, VSP_054301;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Liver.
CC   -!- POLYMORPHISM: The Ala-98/Val-98 polymorphism is associated with a
CC       reduction in glucose-induced serum C-peptide and insulin
CC       responses.
CC   -!- DISEASE: Hepatic adenomas familial (HEPAF) [MIM:142330]: Rare
CC       benign liver tumors of presumable epithelial origin that develop
CC       in an otherwise normal liver. Hepatic adenomas may be single or
CC       multiple. They consist of sheets of well-differentiated
CC       hepatocytes that contain fat and glycogen and can produce bile.
CC       Bile ducts or portal areas are absent. Kupffer cells, if present,
CC       are reduced in number and are non-functional. Conditions
CC       associated with adenomas are insulin-dependent diabetes mellitus
CC       and glycogen storage diseases (types 1 and 3). Note=The disease is
CC       caused by mutations affecting the gene represented in this entry.
CC       Bi-allelic inactivation of HNF1A, whether sporadic or associated
CC       with MODY3, may be an early step in the developmant of some
CC       hepatocellular carcinomas.
CC   -!- DISEASE: Maturity-onset diabetes of the young 3 (MODY3)
CC       [MIM:600496]: A form of diabetes that is characterized by an
CC       autosomal dominant mode of inheritance, onset in childhood or
CC       early adulthood (usually before 25 years of age), a primary defect
CC       in insulin secretion and frequent insulin-independence at the
CC       beginning of the disease. Note=The disease is caused by mutations
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Diabetes mellitus, insulin-dependent, 20 (IDDM20)
CC       [MIM:612520]: A multifactorial disorder of glucose homeostasis
CC       that is characterized by susceptibility to ketoacidosis in the
CC       absence of insulin therapy. Clinical features are polydipsia,
CC       polyphagia and polyuria which result from hyperglycemia-induced
CC       osmotic diuresis and secondary thirst. These derangements result
CC       in long-term complications that affect the eyes, kidneys, nerves,
CC       and blood vessels. Note=Disease susceptibility is associated with
CC       variations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the HNF1 homeobox family.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors
CC       entry;
CC       URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";
CC   -!- WEB RESOURCE: Name=SeattleSNPs;
CC       URL="http://pga.gs.washington.edu/data/tcf1/";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; M57732; AAA88077.1; -; mRNA.
DR   EMBL; X71346; CAB59201.1; -; mRNA.
DR   EMBL; U72618; AAC51137.1; -; Genomic_DNA.
DR   EMBL; U72612; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; U72613; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; U72614; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; U72615; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; U72616; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; U72617; AAC51137.1; JOINED; Genomic_DNA.
DR   EMBL; HM116552; ADM43489.1; -; mRNA.
DR   EMBL; HM116557; ADM43494.1; -; mRNA.
DR   EMBL; HM116558; ADM43495.1; -; mRNA.
DR   EMBL; HM449088; ADK56177.1; -; mRNA.
DR   EMBL; HM449089; ADK56178.1; -; mRNA.
DR   EMBL; EF641294; ABR09270.1; -; Genomic_DNA.
DR   EMBL; AC079602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471054; EAW98226.1; -; Genomic_DNA.
DR   EMBL; BC104908; AAI04909.1; -; mRNA.
DR   EMBL; BC104910; AAI04911.1; -; mRNA.
DR   CCDS; CCDS9209.1; -. [P20823-1]
DR   PIR; A36749; A36749.
DR   RefSeq; NP_000536.5; NM_000545.5. [P20823-1]
DR   UniGene; Hs.654455; -.
DR   PDB; 1IC8; X-ray; 2.60 A; A/B=85-278.
DR   PDB; 2GYP; X-ray; 1.40 A; A/B=2-32.
DR   PDBsum; 1IC8; -.
DR   PDBsum; 2GYP; -.
DR   ProteinModelPortal; P20823; -.
DR   SMR; P20823; 2-31, 85-286.
DR   BioGrid; 112789; 37.
DR   DIP; DIP-33544N; -.
DR   IntAct; P20823; 9.
DR   STRING; 9606.ENSP00000257555; -.
DR   PhosphoSite; P20823; -.
DR   DMDM; 51338763; -.
DR   MaxQB; P20823; -.
DR   PaxDb; P20823; -.
DR   PRIDE; P20823; -.
DR   DNASU; 6927; -.
DR   Ensembl; ENST00000538646; ENSP00000443964; ENSG00000135100. [P20823-4]
DR   Ensembl; ENST00000540108; ENSP00000445445; ENSG00000135100.
DR   Ensembl; ENST00000541395; ENSP00000443112; ENSG00000135100.
DR   Ensembl; ENST00000541924; ENSP00000440361; ENSG00000135100. [P20823-5]
DR   Ensembl; ENST00000543427; ENSP00000439721; ENSG00000135100. [P20823-6]
DR   GeneID; 6927; -.
DR   KEGG; hsa:6927; -.
DR   UCSC; uc001tze.2; human. [P20823-3]
DR   UCSC; uc001tzf.3; human. [P20823-2]
DR   UCSC; uc001tzg.3; human. [P20823-1]
DR   CTD; 6927; -.
DR   GeneCards; GC12P121416; -.
DR   H-InvDB; HIX0036847; -.
DR   HGNC; HGNC:11621; HNF1A.
DR   HPA; CAB010430; -.
DR   HPA; HPA035231; -.
DR   MIM; 142330; phenotype.
DR   MIM; 142410; gene.
DR   MIM; 600496; phenotype.
DR   MIM; 606391; phenotype.
DR   MIM; 612520; phenotype.
DR   neXtProt; NX_P20823; -.
DR   Orphanet; 324575; Hyperinsulinism due to HNF1A deficiency.
DR   Orphanet; 552; MODY syndrome.
DR   PharmGKB; PA36380; -.
DR   eggNOG; NOG79356; -.
DR   HOGENOM; HOG000015305; -.
DR   HOVERGEN; HBG005980; -.
DR   InParanoid; P20823; -.
DR   KO; K08036; -.
DR   OMA; SHVAQSP; -.
DR   OrthoDB; EOG769ZJ9; -.
DR   PhylomeDB; P20823; -.
DR   TreeFam; TF320327; -.
DR   Reactome; REACT_13819; Regulation of gene expression in beta cells.
DR   SignaLink; P20823; -.
DR   EvolutionaryTrace; P20823; -.
DR   GeneWiki; HNF1A; -.
DR   GenomeRNAi; 6927; -.
DR   NextBio; 27105; -.
DR   PRO; PR:P20823; -.
DR   ArrayExpress; P20823; -.
DR   Bgee; P20823; -.
DR   CleanEx; HS_HNF1A; -.
DR   Genevestigator; P20823; -.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0043234; C:protein complex; IDA:UniProtKB.
DR   GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0046983; F:protein dimerization activity; IPI:UniProtKB.
DR   GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
DR   GO; GO:0042803; F:protein homodimerization activity; IPI:UniProtKB.
DR   GO; GO:0001077; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; ISS:BHF-UCL.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IDA:UniProtKB.
DR   GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:UniProtKB.
DR   GO; GO:0042593; P:glucose homeostasis; IMP:UniProtKB.
DR   GO; GO:0046323; P:glucose import; IMP:UniProtKB.
DR   GO; GO:0030073; P:insulin secretion; IMP:UniProtKB.
DR   GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL.
DR   GO; GO:0060261; P:positive regulation of transcription initiation from RNA polymerase II promoter; IGI:UniProtKB.
DR   GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR   GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
DR   GO; GO:0035623; P:renal glucose absorption; IMP:UniProtKB.
DR   Gene3D; 1.10.10.60; -; 1.
DR   Gene3D; 1.10.260.40; -; 1.
DR   InterPro; IPR006899; HNF-1_N.
DR   InterPro; IPR023219; HNF1_dimer_dom.
DR   InterPro; IPR006898; HNF1a_C.
DR   InterPro; IPR006897; HNF1b_C.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR009057; Homeodomain-like.
DR   InterPro; IPR010982; Lambda_DNA-bd_dom.
DR   Pfam; PF04814; HNF-1_N; 1.
DR   Pfam; PF04813; HNF-1A_C; 1.
DR   Pfam; PF04812; HNF-1B_C; 1.
DR   Pfam; PF00046; Homeobox; 1.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF100957; SSF100957; 1.
DR   SUPFAM; SSF46689; SSF46689; 1.
DR   SUPFAM; SSF47413; SSF47413; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Activator; Alternative splicing; Complete proteome;
KW   Diabetes mellitus; Disease mutation; DNA-binding; Homeobox; Nucleus;
KW   Polymorphism; Reference proteome; Transcription;
KW   Transcription regulation.
FT   CHAIN         1    631       Hepatocyte nuclear factor 1-alpha.
FT                                /FTId=PRO_0000049115.
FT   DNA_BIND    199    279       Homeobox; HNF1-type.
FT   REGION        1     31       Dimerization.
FT   REGION      130    132       Interaction with DNA.
FT   REGION      143    149       Interaction with DNA.
FT   REGION      155    158       Interaction with DNA.
FT   REGION      203    206       Interaction with DNA.
FT   REGION      263    265       Interaction with DNA.
FT   REGION      270    273       Interaction with DNA.
FT   MOTIF       197    205       Nuclear localization signal (Probable).
FT   COMPBIAS     71     80       Asp/Glu-rich (acidic; potential
FT                                involvement with transcription).
FT   VAR_SEQ       1    117       Missing (in isoform 6).
FT                                /FTId=VSP_053324.
FT   VAR_SEQ     110    119       EDPWRVAKMV -> VHPCRAGRAD (in isoform 8).
FT                                /FTId=VSP_054300.
FT   VAR_SEQ     120    631       Missing (in isoform 8).
FT                                /FTId=VSP_054301.
FT   VAR_SEQ     176    278       QFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQ
FT                                AYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSN
FT                                LVTEVRVYNWFANRRKEEAFR -> RRNASREGCPHHRHRG
FT                                WAPTSSRRCVSTTGLPTGAKKKPSGTSWPWTRTAGPPQGQA
FT                                RDLRCPLTAPLACLHLPSPPVRSTVCAMDSLRPVRLQKYPQ
FT                                AAAVP (in isoform 4).
FT                                /FTId=VSP_047736.
FT   VAR_SEQ     239    247       AECIQRGVS -> CALWTACDQ (in isoform 5).
FT                                /FTId=VSP_047737.
FT   VAR_SEQ     248    631       Missing (in isoform 5).
FT                                /FTId=VSP_047738.
FT   VAR_SEQ     279    631       Missing (in isoform 4).
FT                                /FTId=VSP_047739.
FT   VAR_SEQ     438    520       LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMP
FT                                PVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLP
FT                                Q -> KLVGMGGHLGGRLMGQPQNPGAGRATGTHSFIHTTC
FT                                IYPVPTLDQSLCYISDTWVNQTDQNLSNSSREAGTKHNTSI
FT                                LWYLRR (in isoform 6).
FT                                /FTId=VSP_053325.
FT   VAR_SEQ     438    494       LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMP
FT                                PVQSHVTQSPFMATMA -> KLVGMGGHLGGRLMGQPQNPG
FT                                AGRATGTHSFIHSFIQHVFIQCLLWTSHCATSVIPG (in
FT                                isoform C).
FT                                /FTId=VSP_002252.
FT   VAR_SEQ     495    601       Missing (in isoform C).
FT                                /FTId=VSP_002253.
FT   VAR_SEQ     501    542       ALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQ
FT                                V -> GEHPVPHTAGDDDRGWLSMDAGERGAWQALQSACVS
FT                                GTSVFP (in isoform B).
FT                                /FTId=VSP_002250.
FT   VAR_SEQ     521    631       Missing (in isoform 6).
FT                                /FTId=VSP_053326.
FT   VAR_SEQ     540    540       K -> KQVRSRPAGPPLACDRAPHPHIPRAQEAALLP (in
FT                                isoform 7).
FT                                /FTId=VSP_054302.
FT   VAR_SEQ     543    601       Missing (in isoform B).
FT                                /FTId=VSP_002251.
FT   VARIANT      12     12       L -> H (in MODY3; abolishes interaction
FT                                with PCBD1 and DNA).
FT                                /FTId=VAR_010537.
FT   VARIANT      20     20       G -> R (in MODY3; abolishes interaction
FT                                with PCBD1 and DNA).
FT                                /FTId=VAR_012483.
FT   VARIANT      27     27       I -> L (in dbSNP:rs1169288).
FT                                /FTId=VAR_007905.
FT   VARIANT      31     31       G -> D (in MODY3; no effect on
FT                                interaction with PCBD1 and DNA).
FT                                /FTId=VAR_010538.
FT   VARIANT      48     48       E -> K (in IDDM20).
FT                                /FTId=VAR_010539.
FT   VARIANT      98     98       A -> V (in dbSNP:rs1800574).
FT                                /FTId=VAR_010540.
FT   VARIANT     107    107       L -> R (in MODY3).
FT                                /FTId=VAR_010541.
FT   VARIANT     117    117       K -> E (in MODY3).
FT                                /FTId=VAR_010542.
FT   VARIANT     122    122       Y -> C (in MODY3).
FT                                /FTId=VAR_003756.
FT   VARIANT     127    127       N -> Y (in a hepatocellular carcinoma
FT                                sample; somatic mutation).
FT                                /FTId=VAR_033088.
FT   VARIANT     128    128       I -> N (in MODY3).
FT                                /FTId=VAR_010543.
FT   VARIANT     129    129       P -> T (in MODY3).
FT                                /FTId=VAR_010544.
FT   VARIANT     131    131       R -> Q (in MODY3; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_010545.
FT   VARIANT     131    131       R -> W (in MODY3; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_010546.
FT   VARIANT     133    133       V -> M (in MODY3).
FT                                /FTId=VAR_010547.
FT   VARIANT     142    142       S -> F (in MODY3; reduces transcription
FT                                activation by about 80%).
FT                                /FTId=VAR_003757.
FT   VARIANT     143    143       H -> Y (in MODY3; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_010548.
FT   VARIANT     158    158       K -> N (in MODY3; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_010549.
FT   VARIANT     159    159       R -> Q (in MODY3).
FT                                /FTId=VAR_003758.
FT   VARIANT     159    159       R -> W (in MODY3).
FT                                /FTId=VAR_010550.
FT   VARIANT     161    161       A -> T (in MODY3).
FT                                /FTId=VAR_010551.
FT   VARIANT     165    165       W -> C (in a hepatocellular carcinoma
FT                                sample; somatic mutation).
FT                                /FTId=VAR_033089.
FT   VARIANT     191    191       G -> D (in late-onset NIDDM).
FT                                /FTId=VAR_010552.
FT   VARIANT     200    200       R -> W (in MODY3; expected to interfere
FT                                with nuclear localization).
FT                                /FTId=VAR_063069.
FT   VARIANT     203    203       R -> C (in MODY3; expected to interfere
FT                                with nuclear localization and DNA
FT                                binding).
FT                                /FTId=VAR_010554.
FT   VARIANT     203    203       R -> H (in MODY3; expected to interfere
FT                                with nuclear localization and DNA
FT                                binding).
FT                                /FTId=VAR_012484.
FT   VARIANT     205    205       K -> Q (in MODY3; reduces transcription
FT                                activation by about 50%).
FT                                /FTId=VAR_010555.
FT   VARIANT     206    206       W -> C (in a hepatic adenoma sample;
FT                                somatic mutation; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_033090.
FT   VARIANT     206    206       W -> L (in a hepatic adenoma sample;
FT                                somatic mutation; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_033091.
FT   VARIANT     229    229       R -> Q (in MODY3).
FT                                /FTId=VAR_010556.
FT   VARIANT     237    237       N -> S (in a hepatic multiple adenoma
FT                                sample; somatic mutation).
FT                                /FTId=VAR_033092.
FT   VARIANT     241    241       C -> G (in IDDM20 and MODY3).
FT                                /FTId=VAR_010557.
FT   VARIANT     244    244       R -> G (in a hepatic adenoma sample;
FT                                somatic mutation; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_033093.
FT   VARIANT     250    250       Q -> P (in a hepatocellular carcinoma
FT                                sample; somatic mutation).
FT                                /FTId=VAR_033094.
FT   VARIANT     254    254       L -> M (in late-onset NIDDM; low
FT                                penetrance; unknown pathological
FT                                significance).
FT                                /FTId=VAR_010558.
FT   VARIANT     259    259       V -> D (in MODY3).
FT                                /FTId=VAR_010559.
FT   VARIANT     260    260       T -> M (in MODY3).
FT                                /FTId=VAR_010560.
FT   VARIANT     263    263       R -> C (in MODY3; expected to interfere
FT                                with DNA binding).
FT                                /FTId=VAR_010561.
FT   VARIANT     268    268       F -> C (in a hepatic adenoma sample;
FT                                somatic mutation).
FT                                /FTId=VAR_033095.
FT   VARIANT     271    271       R -> W (in MODY3).
FT                                /FTId=VAR_010562.
FT   VARIANT     272    272       R -> C (in NIDDM).
FT                                /FTId=VAR_010563.
FT   VARIANT     272    272       R -> H (in IDDM20 and MODY3).
FT                                /FTId=VAR_003759.
FT   VARIANT     273    273       K -> E (in a hepatic adenoma sample;
FT                                somatic mutation).
FT                                /FTId=VAR_033096.
FT   VARIANT     319    319       G -> S (strong association with NIDDM
FT                                susceptibility; unique to the Canadian
FT                                Oji-Cree population).
FT                                /FTId=VAR_010564.
FT   VARIANT     415    415       G -> R (in IDDM20; loss of function).
FT                                /FTId=VAR_010565.
FT   VARIANT     432    432       S -> C (in MODY3).
FT                                /FTId=VAR_012485.
FT   VARIANT     447    447       P -> L (in MODY3).
FT                                /FTId=VAR_003760.
FT   VARIANT     487    487       S -> N (in dbSNP:rs2464196).
FT                                /FTId=VAR_007906.
FT   VARIANT     514    514       H -> R.
FT                                /FTId=VAR_010566.
FT   VARIANT     519    519       P -> L (in MODY3).
FT                                /FTId=VAR_010567.
FT   VARIANT     537    537       T -> R (in MODY3; incomplete penetrance).
FT                                /FTId=VAR_010568.
FT   VARIANT     574    574       G -> S (in a black African with an
FT                                atypical form of diabetes; also in an
FT                                individual with hepatic adenoma and
FT                                familial early-onset diabetes;
FT                                dbSNP:rs1169305).
FT                                /FTId=VAR_010569.
FT   VARIANT     583    583       R -> G (in IDDM20).
FT                                /FTId=VAR_003761.
FT   VARIANT     583    583       R -> Q (in late-onset NIDDM; also in an
FT                                individual with hepatic hyperplasia and
FT                                familial early-onset diabetes).
FT                                /FTId=VAR_010570.
FT   VARIANT     594    594       S -> I (in MODY3).
FT                                /FTId=VAR_010571.
FT   VARIANT     618    618       I -> M (in MODY3).
FT                                /FTId=VAR_012486.
FT   VARIANT     619    619       E -> K (in MODY3).
FT                                /FTId=VAR_010572.
FT   VARIANT     620    620       T -> I (in MODY3; incomplete penetrance).
FT                                /FTId=VAR_010573.
FT   MUTAGEN     127    127       N->W: Abolishes transcription activation.
FT   MUTAGEN     132    132       E->K: Abolishes transcription activation.
FT   MUTAGEN     177    177       F->S: No significant effect on
FT                                transcription activation.
FT   MUTAGEN     186    186       I->Q: No effect on transcription
FT                                activation.
FT   MUTAGEN     190    190       T->Q: No effect on transcription
FT                                activation.
FT   MUTAGEN     202    202       N->D: Reduces transcription activation by
FT                                70%.
FT   MUTAGEN     246    246       V->D: Reduces transcription activation by
FT                                75%.
FT   MUTAGEN     257    257       N->W: Reduces transcription activation by
FT                                70%.
FT   HELIX         4     19
FT   HELIX        23     30
FT   HELIX        94    107
FT   HELIX       112    125
FT   HELIX       130    137
FT   HELIX       141    149
FT   HELIX       156    169
FT   TURN        170    173
FT   HELIX       174    177
FT   HELIX       208    221
FT   TURN        226    229
FT   HELIX       230    243
FT   HELIX       255    257
FT   HELIX       261    274
SQ   SEQUENCE   631 AA;  67356 MW;  8327CD4FDC39254A CRC64;
     MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
     PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
     SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
     GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
     CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
     AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
     SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
     SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
     QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
     QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPAGIQHLQP AHRLSASPTV SSSSLVLYQS
     SDSSNGQSHL LPSNHSVIET FISTQMASSS Q
//
DBGET integrated database retrieval system