ID ZN517_HUMAN Reviewed; 492 AA.
AC Q6ZMY9;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 30-NOV-2016, entry version 117.
DE RecName: Full=Zinc finger protein 517;
GN Name=ZNF517;
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].
RC TISSUE=Esophageal carcinoma;
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=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SIMILARITY: Contains 10 C2H2-type zinc fingers.
CC {ECO:0000255|PROSITE-ProRule:PRU00042}.
CC -!- SIMILARITY: Contains 1 KRAB domain. {ECO:0000255|PROSITE-
CC ProRule:PRU00119}.
DR EMBL; AK131440; BAD18586.1; -; mRNA.
DR EMBL; AF235103; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS6434.1; -.
DR RefSeq; NP_998770.2; NM_213605.2.
DR RefSeq; XP_011515316.1; XM_011517014.2.
DR RefSeq; XP_011515317.1; XM_011517015.2.
DR UniGene; Hs.521942; -.
DR UniGene; Hs.639618; -.
DR ProteinModelPortal; Q6ZMY9; -.
DR SMR; Q6ZMY9; -.
DR BioGrid; 131045; 25.
DR STRING; 9606.ENSP00000353058; -.
DR iPTMnet; Q6ZMY9; -.
DR PhosphoSitePlus; Q6ZMY9; -.
DR BioMuta; ZNF517; -.
DR DMDM; 296453044; -.
DR PaxDb; Q6ZMY9; -.
DR PeptideAtlas; Q6ZMY9; -.
DR PRIDE; Q6ZMY9; -.
DR Ensembl; ENST00000359971; ENSP00000353058; ENSG00000197363.
DR Ensembl; ENST00000531720; ENSP00000436103; ENSG00000197363.
DR Ensembl; ENST00000533965; ENSP00000435166; ENSG00000197363.
DR GeneID; 340385; -.
DR KEGG; hsa:340385; -.
DR UCSC; uc003zed.1; human.
DR CTD; 340385; -.
DR GeneCards; ZNF517; -.
DR HGNC; HGNC:27984; ZNF517.
DR HPA; HPA055337; -.
DR neXtProt; NX_Q6ZMY9; -.
DR OpenTargets; ENSG00000197363; -.
DR PharmGKB; PA134889443; -.
DR eggNOG; KOG1721; Eukaryota.
DR eggNOG; COG5048; LUCA.
DR GeneTree; ENSGT00860000133771; -.
DR HOGENOM; HOG000234617; -.
DR HOVERGEN; HBG018163; -.
DR InParanoid; Q6ZMY9; -.
DR KO; K09228; -.
DR OMA; DSRMEAG; -.
DR OrthoDB; EOG091G02KC; -.
DR PhylomeDB; Q6ZMY9; -.
DR TreeFam; TF337055; -.
DR BioCyc; ZFISH:G66-30756-MONOMER; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR GenomeRNAi; 340385; -.
DR PRO; PR:Q6ZMY9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR Bgee; ENSG00000197363; -.
DR CleanEx; HS_ZNF517; -.
DR ExpressionAtlas; Q6ZMY9; baseline and differential.
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:0006355; P:regulation of transcription, DNA-templated; IEA:UniProtKB-KW.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR CDD; cd07765; KRAB_A-box; 1.
DR Gene3D; 3.30.160.60; -; 10.
DR InterPro; IPR001909; KRAB.
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 Pfam; PF00096; zf-C2H2; 2.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF109640; SSF109640; 1.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 9.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 10.
PE 2: Evidence at transcript level;
KW Complete proteome; DNA-binding; Metal-binding; Nucleus; Polymorphism;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Zinc; Zinc-finger.
FT CHAIN 1 492 Zinc finger protein 517.
FT /FTId=PRO_0000047636.
FT DOMAIN 14 85 KRAB. {ECO:0000255|PROSITE-
FT ProRule:PRU00119}.
FT ZN_FING 178 199 C2H2-type 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 205 227 C2H2-type 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 233 255 C2H2-type 3. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 261 283 C2H2-type 4. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 289 311 C2H2-type 5. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 317 339 C2H2-type 6. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 368 390 C2H2-type 7. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 396 418 C2H2-type 8. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 424 446 C2H2-type 9. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 452 474 C2H2-type 10. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT VARIANT 6 6 P -> L (in dbSNP:rs2976649).
FT /FTId=VAR_057425.
FT CONFLICT 198 198 I -> V (in Ref. 1; BAD18586).
FT {ECO:0000305}.
FT CONFLICT 349 349 V -> A (in Ref. 1; BAD18586).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 452 479 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 317 344 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 261 288 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 205 232 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 424 446 ismart:ZnF_C2H2 [T]
FT MYHIT 317 339 ismart:ZnF_C2H2 [T]
FT MYHIT 233 260 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 289 316 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 178 199 ismart:ZnF_C2H2 [T]
FT MYHIT 396 423 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 424 451 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 426 446 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 205 227 ismart:ZnF_C2H2 [T]
FT MYHIT 207 227 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 319 339 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 261 283 ismart:ZnF_C2H2 [T]
FT MYHIT 368 395 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 291 311 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 14 54 ipfam:KRAB [T]
FT MYHIT 396 418 ismart:ZnF_C2H2 [T]
FT MYHIT 14 85 iprf:KRAB [T]
FT MYHIT 454 474 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 233 255 ismart:ZnF_C2H2 [T]
FT MYHIT 370 390 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 452 474 ismart:ZnF_C2H2 [T]
FT MYHIT 14 74 ismart:KRAB [T]
FT MYHIT 398 418 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 235 255 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 368 390 ismart:ZnF_C2H2 [T]
FT MYHIT 263 283 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 178 204 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 289 311 ismart:ZnF_C2H2 [T]
SQ SEQUENCE 492 AA; 54711 MW; B1DE889754324F2E CRC64;
MAMALPMPGP QEAVVFEDVA VYFTRIEWSC LAPDQQALYR DVMLENYGNL ASLGFLVAKP
ALISLLEQGE EPGALILQVA EQSVAKASLC TDSRMEAGIM ESPLQRKLSR QAGLPGTVWG
CLPWGHPVGG HPAPPHPHGG PEDGSDKPTH PRAREHSASP RVLQEDLGRP VGSSAPRYRC
VCGKAFRYNS LLLRHQIIHT GAKPFQCTEC GKAFKQSSIL LRHQLIHTEE KPFQCGECGK
AFRQSTQLAA HHRVHTRERP YACGECGKAF SRSSRLLQHQ KFHTGEKPFA CTECGKAFCR
RFTLNEHGRI HSGERPYRCL RCGQRFIRGS SLLKHHRLHA QEGAQDGGVG QGALLGAAQR
PQAGDPPHEC PVCGRPFRHN SLLLLHLRLH TGEKPFECAE CGKAFGRKSN LTLHQKIHTK
EKPFACTECG KAFRRSYTLN EHYRLHSGER PYRCRACGRA CSRLSTLIQH QKVHGREPGE
DTEGRRAPCW AS
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