ID ZN624_HUMAN Reviewed; 865 AA. AC Q9P2J8; Q3SY62; Q3SY63; Q6ZN27; DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot. DT 16-JUN-2009, sequence version 3. DT 05-OCT-2010, entry version 79. DE RecName: Full=Zinc finger protein 624; GN Name=ZNF624; Synonyms=KIAA1349; 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 [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT RP ASN-135. RC TISSUE=Brain; RX MEDLINE=20181126; PubMed=10718198; DOI=10.1093/dnares/7.1.65; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVI. RT The complete sequences of 150 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 7:65-73(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT RP ASN-135. RC TISSUE=Tongue; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in RT the human lineage."; RL Nature 440:1045-1049(2006). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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 [5] RP VARIANT [LARGE SCALE ANALYSIS] SER-558. 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: May be involved in transcriptional regulation. CC -!- SUBCELLULAR LOCATION: Nucleus (Probable). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9P2J8-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9P2J8-2; Sequence=VSP_037538; CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. CC -!- SIMILARITY: Contains 21 C2H2-type zinc fingers. CC -!- SIMILARITY: Contains 1 KRAB domain. CC -!- SEQUENCE CAUTION: CC Sequence=BAA92587.1; Type=Erroneous initiation; 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; AB037770; BAA92587.1; ALT_INIT; mRNA. DR EMBL; AK131401; BAD18548.1; -; mRNA. DR EMBL; AC092714; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC098850; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC103943; AAI03944.1; -; mRNA. DR EMBL; BC103944; AAI03945.1; -; mRNA. DR EMBL; BC103946; AAI03947.1; -; mRNA. DR IPI; IPI00412544; -. DR IPI; IPI00930252; -. DR RefSeq; NP_065838.2; -. DR UniGene; Hs.128078; -. DR ProteinModelPortal; Q9P2J8; -. DR PRIDE; Q9P2J8; -. DR Ensembl; ENST00000311331; ENSP00000310472; ENSG00000197566. DR GeneID; 57547; -. DR KEGG; hsa:57547; -. DR CTD; 57547; -. DR GeneCards; GC17M016464; -. DR HGNC; HGNC:29254; ZNF624. DR PharmGKB; PA134977006; -. DR HOGENOM; HBG717200; -. DR HOVERGEN; HBG018163; -. DR InParanoid; Q9P2J8; -. DR OMA; KPYKCYD; -. DR OrthoDB; EOG9ZCWPM; -. DR PhylomeDB; Q9P2J8; -. DR ArrayExpress; Q9P2J8; -. DR Bgee; Q9P2J8; -. DR CleanEx; HS_ZNF624; -. DR Genevestigator; Q9P2J8; -. DR GermOnline; ENSG00000197566; Homo sapiens. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:InterPro. DR GO; GO:0006350; P:transcription; IEA:UniProtKB-KW. 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 Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 21. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 14. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 21. DR SUPFAM; SSF109640; Krueppel-associated_box; 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 20. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 21. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; DNA-binding; Metal-binding; KW Nucleus; Polymorphism; Repeat; Transcription; KW Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 865 Zinc finger protein 624. FT /FTId=PRO_0000047695. FT DOMAIN 54 125 KRAB. FT ZN_FING 276 298 C2H2-type 1. FT ZN_FING 304 326 C2H2-type 2. FT ZN_FING 332 354 C2H2-type 3. FT ZN_FING 360 382 C2H2-type 4; degenerate. FT ZN_FING 388 410 C2H2-type 5. FT ZN_FING 416 438 C2H2-type 6. FT ZN_FING 444 466 C2H2-type 7. FT ZN_FING 472 494 C2H2-type 8. FT ZN_FING 500 522 C2H2-type 9. FT ZN_FING 528 550 C2H2-type 10. FT ZN_FING 556 578 C2H2-type 11. FT ZN_FING 584 606 C2H2-type 12. FT ZN_FING 612 634 C2H2-type 13. FT ZN_FING 640 662 C2H2-type 14. FT ZN_FING 668 690 C2H2-type 15. FT ZN_FING 696 718 C2H2-type 16. FT ZN_FING 724 746 C2H2-type 17. FT ZN_FING 752 774 C2H2-type 18. FT ZN_FING 780 802 C2H2-type 19. FT ZN_FING 808 830 C2H2-type 20. FT ZN_FING 836 858 C2H2-type 21. FT VAR_SEQ 1 126 Missing (in isoform 2). FT /FTId=VSP_037538. FT VARIANT 135 135 K -> N (in dbSNP:rs8065506). FT /FTId=VAR_058001. FT VARIANT 558 558 C -> S (in a colorectal cancer sample; FT somatic mutation). FT /FTId=VAR_035592. FT CONFLICT 576 576 R -> C (in Ref. 2; BAD18548). FT CONFLICT 747 747 S -> T (in Ref. 4; AAI03947). SQ SEQUENCE 865 AA; 99929 MW; 12BB2E9410FFF91F CRC64; MSLQDSTLSR EGKPEGEIMA AVFFSVGRLS PEVTQPDEDL HLQAEETQLV KESVTFKDVA IDFTLEEWRL MDPTQRNLHK DVMLENYRNL VSLGLAVSKP DMISHLENGK GPWVTVREIS RIPYPDMEPK PATKKATRTK AISEDLSQEA ILEKLTENGL WDSRMEGLWK WNDRILRLQN NQENHLSQRI IPLKKTPTSQ RGFRFESILI PEPGIATEEL HSRCQTQEEN FTENLNLITD THLGKIICKE MKGSKAIRQT SELTLGKKSN NKEKPYKCST CEKAFHYRSL LIQHQRTHTK EKPYECNECG KTFSQPSYLS QHKKIHTGEK PYKCNECGKA FIASSSLMVH QRIHTKEKPY QCNVCGKSFS QCARLNQHQR IQTGEKPYKC SECGKAFSDK SKLARHQETH NGEKPYKCDD CGKAFRNKSY LSVHQKTHTE EKPYQCNECG KSFKNTTIFN VHQRIHTGEK PFRCNECGKA YRSNSSLIVH IRTHTGEKPY ECNECGKAFN RIANFTEHQR IHTGEKPYKC NECGKAFINY SCLTVHHRMH TGEKPYKCTE CGKAFMRSSS LIIHQRIHTE EKPYLCNECG ESFRIKSHLT VHQRIHTGEK PYKCTDCERA FTKMVNLKEH QKIHTGVKPY KCYDCGKSFR TKSYLIVHQR THTGEKPYKC NECEKAFTNT SQLTVHQRRH TGEKPYKCNE CGKVFTSNSG FNTHQRTHTG EKPFKCNDCG KAFSQMVHVT EHQKIHSGEK PYKCDVCGKA FRRGSYLTVH WRTHTGEKPY TCKECGKGCI TLSQLTLHQR IHTGERPYKC EECGKAFRTN SDFTVHLRMH TGEKPYKCNE CGKAFRSSSS LTVHQRIHQR ETQLI //