ID ZNF81_HUMAN Reviewed; 661 AA.
AC P51508; Q6RX22; Q96QH6;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 3.
DT 01-MAY-2013, entry version 117.
DE RecName: Full=Zinc finger protein 81;
DE AltName: Full=HFZ20;
GN Name=ZNF81;
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], VARIANT MRX45 ASN-179, AND VARIANTS VAL-3;
RP SER-157; LEU-185 AND VAL-499.
RX PubMed=15121780; DOI=10.1136/jmg.2003.016972;
RA Kleefstra T., Yntema H.G., Oudakker A.R., Banning M.J.G.,
RA Kalscheuer V.M., Chelly J., Moraine C., Ropers H.-H., Fryns J.-P.,
RA Janssen I.M., Sistermans E.A., Nillesen W.N., de Vries L.B.A.,
RA Hamel B.C.J., van Bokhoven H.;
RT "Zinc finger 81 (ZNF81) mutations associated with X-linked mental
RT retardation.";
RL J. Med. Genet. 41:394-399(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 325-661.
RX PubMed=8507979; DOI=10.1007/BF00417431;
RA Marino M., Archidiacono N., Franze A., Rosati M., Rocchi M.,
RA Ballabio A., Grimaldi G.;
RT "A novel X-linked member of the human zinc finger protein gene family:
RT isolation, mapping, and expression.";
RL Mamm. Genome 4:252-257(1993).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC -!- DISEASE: Mental retardation, X-linked 45 (MRX45) [MIM:300498]: A
CC disorder characterized by significantly below average general
CC intellectual functioning associated with impairments in adaptative
CC behavior and manifested during the developmental period.
CC Intellectual deficiency is the only primary symptom of non-
CC syndromic X-linked mental retardation, while syndromic mental
CC retardation presents with associated physical, neurological and/or
CC psychiatric manifestations. Note=The disease is caused by
CC mutations affecting the gene represented in this entry.
CC -!- DISEASE: Note=A chromosomal aberration involving ZNF81 is found in
CC a severe mental retardation patient. Translocation
CC t(X;9)(p11.23;q34.3).
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family.
CC -!- SIMILARITY: Contains 12 C2H2-type zinc fingers.
CC -!- SIMILARITY: Contains 1 KRAB domain.
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DR EMBL; AY487248; AAS17752.1; -; mRNA.
DR EMBL; AL591394; CAI39462.1; -; Genomic_DNA.
DR EMBL; AL022578; CAI39462.1; JOINED; Genomic_DNA.
DR EMBL; Z98304; CAI39462.1; JOINED; Genomic_DNA.
DR EMBL; AL022578; CAI42739.1; -; Genomic_DNA.
DR EMBL; AL591394; CAI42739.1; JOINED; Genomic_DNA.
DR EMBL; Z98304; CAI42739.1; JOINED; Genomic_DNA.
DR EMBL; Z98304; CAI42943.1; -; Genomic_DNA.
DR EMBL; AL022578; CAI42943.1; JOINED; Genomic_DNA.
DR EMBL; AL591394; CAI42943.1; JOINED; Genomic_DNA.
DR EMBL; X68011; CAA48148.1; -; Genomic_DNA.
DR IPI; IPI00293409; -.
DR PIR; S60520; S60520.
DR RefSeq; NP_009068.2; NM_007137.3.
DR UniGene; Hs.114246; -.
DR ProteinModelPortal; P51508; -.
DR STRING; 9606.ENSP00000341151; -.
DR PhosphoSite; P51508; -.
DR DMDM; 55977803; -.
DR PaxDb; P51508; -.
DR PRIDE; P51508; -.
DR DNASU; 347344; -.
DR Ensembl; ENST00000338637; ENSP00000341151; ENSG00000197779.
DR Ensembl; ENST00000376954; ENSP00000366153; ENSG00000197779.
DR Ensembl; ENST00000593953; ENSP00000469002; ENSG00000269594.
DR Ensembl; ENST00000599945; ENSP00000472283; ENSG00000269594.
DR GeneID; 347344; -.
DR KEGG; hsa:347344; -.
DR UCSC; uc010nhy.2; human.
DR CTD; 347344; -.
DR GeneCards; GC0XP047696; -.
DR HGNC; HGNC:13156; ZNF81.
DR HPA; HPA001689; -.
DR MIM; 300498; phenotype.
DR MIM; 314998; gene.
DR neXtProt; NX_P51508; -.
DR Orphanet; 777; X-linked nonsyndromic intellectual deficit.
DR PharmGKB; PA37730; -.
DR eggNOG; COG5048; -.
DR HOGENOM; HOG000234617; -.
DR HOVERGEN; HBG018163; -.
DR InParanoid; P51508; -.
DR KO; K09228; -.
DR OMA; RDDSLYS; -.
DR OrthoDB; EOG4PNXGF; -.
DR PhylomeDB; P51508; -.
DR ChiTaRS; ZNF81; human.
DR GenomeRNAi; 347344; -.
DR NextBio; 99097; -.
DR ArrayExpress; P51508; -.
DR Bgee; P51508; -.
DR CleanEx; HS_ZNF81; -.
DR Genevestigator; P51508; -.
DR GermOnline; ENSG00000197779; Homo sapiens.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR Gene3D; 3.30.160.60; -; 13.
DR InterPro; IPR001909; Krueppel-associated_box.
DR InterPro; IPR007087; Znf_C2H2.
DR InterPro; IPR015880; Znf_C2H2-like.
DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd.
DR Pfam; PF01352; KRAB; 1.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 12.
DR SUPFAM; SSF109640; Krueppel-associated_box; 1.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 12.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 1: Evidence at protein level;
KW Chromosomal rearrangement; Complete proteome; Disease mutation;
KW DNA-binding; Mental retardation; Metal-binding; Nucleus; Polymorphism;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Zinc; Zinc-finger.
FT CHAIN 1 661 Zinc finger protein 81.
FT /FTId=PRO_0000047395.
FT DOMAIN 21 92 KRAB.
FT ZN_FING 330 352 C2H2-type 1.
FT ZN_FING 358 380 C2H2-type 2.
FT ZN_FING 386 408 C2H2-type 3.
FT ZN_FING 414 436 C2H2-type 4.
FT ZN_FING 442 464 C2H2-type 5.
FT ZN_FING 470 492 C2H2-type 6.
FT ZN_FING 498 520 C2H2-type 7.
FT ZN_FING 526 548 C2H2-type 8.
FT ZN_FING 554 576 C2H2-type 9.
FT ZN_FING 582 604 C2H2-type 10.
FT ZN_FING 610 632 C2H2-type 11.
FT ZN_FING 638 660 C2H2-type 12.
FT VARIANT 3 3 A -> V.
FT /FTId=VAR_019939.
FT VARIANT 117 117 G -> V (in dbSNP:rs17147793).
FT /FTId=VAR_038806.
FT VARIANT 157 157 N -> S (in dbSNP:rs41312157).
FT /FTId=VAR_019940.
FT VARIANT 179 179 S -> N (in MRX45; dbSNP:rs28933691).
FT /FTId=VAR_019941.
FT VARIANT 185 185 S -> L.
FT /FTId=VAR_019942.
FT VARIANT 213 213 A -> E (in dbSNP:rs537825).
FT /FTId=VAR_052765.
FT VARIANT 499 499 I -> V.
FT /FTId=VAR_019943.
SQ SEQUENCE 661 AA; 75960 MW; 6583905D2DB96975 CRC64;
MPANEDAPQP GEHGSACEVS VSFEDVTVDF SREEWQQLDS TQRRLYQDVM LENYSHLLSV
GFEVPKPEVI FKLEQGEGPW TLEGEAPHQS CSDGKFGIKP SQRRISGKST FHSEMEGEDT
RDDSLYSILE ELWQDAEQIK RCQEKHNKLL SRTTFLNKKI LNTEWDYEYK DFGKFVHPSP
NLILSQKRPH KRDSFGKSFK HNLDLHIHNK SNAAKNLDKT IGHGQVFTQN SSYSHHENTH
TGVKFCERNQ CGKVLSLKHS LSQNVKFPIG EKANTCTEFG KIFTQRSHFF APQKIHTVEK
PHELSKCVNV FTQKPLLSIY LRVHRDEKLY ICTKCGKAFI QNSELIMHEK THTREKPYKC
NECGKSFFQV SSLLRHQTTH TGEKLFECSE CGKGFSLNSA LNIHQKIHTG ERHHKCSECG
KAFTQKSTLR MHQRIHTGER SYICTQCGQA FIQKAHLIAH QRIHTGEKPY ECSDCGKSFP
SKSQLQMHKR IHTGEKPYIC TECGKAFTNR SNLNTHQKSH TGEKSYICAE CGKAFTDRSN
FNKHQTIHTG EKPYVCADCG RAFIQKSELI THQRIHTTEK PYKCPDCEKS FSKKPHLKVH
QRIHTGEKPY ICAECGKAFT DRSNFNKHQT IHTGDKPYKC SDCGKGFTQK SVLSMHRNIH
T
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