ID ZN283_HUMAN Reviewed; 679 AA. AC Q8N7M2; B4DGZ5; B7WP04; Q6RFR9; Q86WM6; DT 07-NOV-2003, integrated into UniProtKB/Swiss-Prot. DT 24-NOV-2009, sequence version 4. DT 05-OCT-2010, entry version 71. DE RecName: Full=Zinc finger protein 283; DE AltName: Full=Zinc finger protein HZF19; GN Name=ZNF283; 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], AND VARIANT ILE-314. RC TISSUE=Brain, and Trachea; 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 [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15057824; DOI=10.1038/nature02399; RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., RA Rubin E.M., Lucas S.M.; RT "The DNA sequence and biology of human chromosome 19."; RL Nature 428:529-535(2004). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] OF 85-242, AND TISSUE SPECIFICITY. RC TISSUE=Brain; RX MEDLINE=22683274; PubMed=12743021; DOI=10.1101/gr.963903; RA Shannon M., Hamilton A.T., Gordon L., Branscomb E., Stubbs L.; RT "Differential expansion of zinc-finger transcription factor loci in RT homologous human and mouse gene clusters."; RL Genome Res. 13:1097-1110(2003). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 172-679, AND VARIANT ILE-314. RX MEDLINE=95169271; PubMed=7865130; DOI=10.1089/dna.1995.14.125; RA Abrink M., Aveskogh M., Hellman L.; RT "Isolation of cDNA clones for 42 different Kruppel-related zinc finger RT proteins expressed in the human monoblast cell line U-937."; RL DNA Cell Biol. 14:125-136(1995). CC -!- FUNCTION: May be involved in transcriptional regulation. CC -!- SUBCELLULAR LOCATION: Nucleus (Probable). CC -!- TISSUE SPECIFICITY: Detected in prostate, testis, and pancreas. CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. CC -!- SIMILARITY: Contains 15 C2H2-type zinc fingers. CC -!- SIMILARITY: Contains 1 KRAB domain. CC -!- SEQUENCE CAUTION: CC Sequence=BAC05251.1; Type=Miscellaneous discrepancy; Note=Compared to the genome, the sequence lacks 6 bp for unexplained reasons; 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; AK098175; BAC05251.1; ALT_SEQ; mRNA. DR EMBL; AK294852; BAG57956.1; -; mRNA. DR EMBL; AC011508; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AY166784; AAO45833.1; -; mRNA. DR EMBL; AY500359; AAS55109.1; -; mRNA. DR IPI; IPI00791390; -. DR RefSeq; NP_862828.1; -. DR UniGene; Hs.652513; -. DR ProteinModelPortal; Q8N7M2; -. DR Ensembl; ENST00000324461; ENSP00000327314; ENSG00000159882. DR GeneID; 284349; -. DR KEGG; hsa:284349; -. DR CTD; 284349; -. DR GeneCards; GC19P044272; -. DR HGNC; HGNC:13077; ZNF283. DR PharmGKB; PA37653; -. DR eggNOG; prNOG17549; -. DR HOVERGEN; HBG018163; -. DR InParanoid; Q8N7M2; -. DR ArrayExpress; Q8N7M2; -. DR Bgee; Q8N7M2; -. DR CleanEx; HS_ZNF283; -. DR Genevestigator; Q8N7M2; -. DR GermOnline; ENSG00000176232; 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; 15. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 6. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 15. DR SUPFAM; SSF109640; Krueppel-associated_box; 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 15. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 15. PE 2: Evidence at transcript level; KW Complete proteome; DNA-binding; Metal-binding; Nucleus; Polymorphism; KW Repeat; Transcription; Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 679 Zinc finger protein 283. FT /FTId=PRO_0000047507. FT DOMAIN 73 152 KRAB. FT ZN_FING 205 227 C2H2-type 1. FT ZN_FING 233 255 C2H2-type 2. FT ZN_FING 261 283 C2H2-type 3. FT ZN_FING 289 311 C2H2-type 4. FT ZN_FING 317 339 C2H2-type 5. FT ZN_FING 345 367 C2H2-type 6. FT ZN_FING 373 395 C2H2-type 7. FT ZN_FING 401 423 C2H2-type 8. FT ZN_FING 429 451 C2H2-type 9. FT ZN_FING 457 479 C2H2-type 10. FT ZN_FING 485 507 C2H2-type 11. FT ZN_FING 513 535 C2H2-type 12. FT ZN_FING 541 563 C2H2-type 13. FT ZN_FING 569 591 C2H2-type 14. FT ZN_FING 597 619 C2H2-type 15. FT VARIANT 314 314 T -> I (in dbSNP:rs2195980). FT /FTId=VAR_060605. FT VARIANT 629 629 R -> H (in dbSNP:rs1061768). FT /FTId=VAR_057416. FT VARIANT 638 638 C -> R (in dbSNP:rs2356437). FT /FTId=VAR_060606. FT VARIANT 638 638 C -> Y (in dbSNP:rs1061769). FT /FTId=VAR_060607. FT VARIANT 646 646 R -> I (in dbSNP:rs10417624). FT /FTId=VAR_057417. FT CONFLICT 139 140 Missing (in Ref. 1; BAG57956). FT CONFLICT 172 172 E -> R (in Ref. 4; AAS55109). FT CONFLICT 432 432 E -> K (in Ref. 4; AAS55109). FT CONFLICT 638 638 C -> H (in Ref. 1; BAC05251/BAG57956 and FT 4; AAS55109). SQ SEQUENCE 679 AA; 77942 MW; ADB64BFD18D49020 CRC64; MESRSVAQAG VQWCDLGSLQ APPPGFTLFS CLSLLSSWDY SSGFSGFCAS PIEESHGALI SSCNSRTMTD GLVTFRDVAI DFSQEEWECL DPAQRDLYVD VMLENYSNLV SLDLESKTYE TKKIFSENDI FEINFSQWEM KDKSKTLGLE ASIFRNNWKC KSIFEGLKGH QEGYFSQMII SYEKIPSYRK SKSLTPHQRI HNTEKSYVCK ECGKACSHGS KLVQHERTHT AEKHFECKEC GKNYLSAYQL NVHQRFHTGE KPYECKECGK TFSWGSSLVK HERIHTGEKP YECKECGKAF SRGYHLTQHQ KIHTGVKSYK CKECGKAFFW GSSLAKHEII HTGEKPYKCK ECGKAFSRGY QLTQHQKIHT GKKPYECKIC GKAFCWGYQL TRHQIFHTGE KPYECKECGK AFNCGSSLIQ HERIHTGEKP YECKECGKAF SRGYHLSQHQ KIHTGEKPFE CKECGKAFSW GSSLVKHERV HTGEKSHECK ECGKTFCSGY QLTRHQVFHT GEKPYECKEC GKAFNCGSSL VQHERIHTGE KPYECKECGK AFSRGYHLTQ HQKIHTGEKP FKCKECGKAF SWGSSLVKHE RVHTNEKSYE CKDCGKAFGS GYQLSVHQRF HTGEKLYQRK EFGKTFTCGS KLVHERTHSN DKPYKYNECG EAFLWTTYSN EKIDTDETL //