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Database: UniProt
Entry: P51508
LinkDB: P51508
Original site: P51508 
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-OCT-2014, entry version 129.
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 {ECO:0000305}.
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 adaptive
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. {ECO:0000269|PubMed:15121780}.
CC       Note=The disease is caused by mutations affecting the gene
CC       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. {ECO:0000305}.
CC   -!- SIMILARITY: Contains 12 C2H2-type zinc fingers.
CC       {ECO:0000255|PROSITE-ProRule:PRU00042}.
CC   -!- SIMILARITY: Contains 1 KRAB domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00119}.
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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   CCDS; CCDS43933.1; -.
DR   PIR; S60520; S60520.
DR   RefSeq; NP_009068.2; NM_007137.3.
DR   RefSeq; XP_005272657.1; XM_005272600.1.
DR   UniGene; Hs.114246; -.
DR   ProteinModelPortal; P51508; -.
DR   SMR; P51508; 14-62, 187-661.
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   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 non-syndromic intellectual disability.
DR   PharmGKB; PA37730; -.
DR   eggNOG; COG5048; -.
DR   HOGENOM; HOG000234617; -.
DR   HOVERGEN; HBG018163; -.
DR   InParanoid; P51508; -.
DR   KO; K09228; -.
DR   OMA; PHELSKC; -.
DR   PhylomeDB; P51508; -.
DR   TreeFam; TF350810; -.
DR   ChiTaRS; ZNF81; human.
DR   GenomeRNAi; 347344; -.
DR   NextBio; 99097; -.
DR   PRO; PR:P51508; -.
DR   ArrayExpress; P51508; -.
DR   Bgee; P51508; -.
DR   CleanEx; HS_ZNF81; -.
DR   Genevestigator; P51508; -.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IBA:RefGenome.
DR   GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:RefGenome.
DR   GO; GO:0006351; P:transcription, DNA-templated; 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; SSF109640; 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. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00119}.
FT   ZN_FING     330    352       C2H2-type 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     358    380       C2H2-type 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     386    408       C2H2-type 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     414    436       C2H2-type 4. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     442    464       C2H2-type 5. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     470    492       C2H2-type 6. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     498    520       C2H2-type 7. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     526    548       C2H2-type 8. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     554    576       C2H2-type 9. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     582    604       C2H2-type 10. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     610    632       C2H2-type 11. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     638    660       C2H2-type 12. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   VARIANT       3      3       A -> V (in dbSNP:rs183846665).
FT                                {ECO:0000269|PubMed:15121780}.
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                                {ECO:0000269|PubMed:15121780}.
FT                                /FTId=VAR_019940.
FT   VARIANT     179    179       S -> N (in MRX45; dbSNP:rs28933691).
FT                                {ECO:0000269|PubMed:15121780}.
FT                                /FTId=VAR_019941.
FT   VARIANT     185    185       S -> L (in dbSNP:rs186251256).
FT                                {ECO:0000269|PubMed:15121780}.
FT                                /FTId=VAR_019942.
FT   VARIANT     213    213       A -> E (in dbSNP:rs537825).
FT                                /FTId=VAR_052765.
FT   VARIANT     499    499       I -> V. {ECO:0000269|PubMed:15121780}.
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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