ZN517_HUMAN
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 03-AUG-2022, entry version 153.
DE RecName: Full=Zinc finger protein 517;
GN Name=ZNF517;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., 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., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., 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}.
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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 AlphaFoldDB; Q6ZMY9; -.
DR SMR; Q6ZMY9; -.
DR BioGRID; 131045; 62.
DR IntAct; Q6ZMY9; 25.
DR STRING; 9606.ENSP00000353058; -.
DR iPTMnet; Q6ZMY9; -.
DR PhosphoSitePlus; Q6ZMY9; -.
DR BioMuta; ZNF517; -.
DR DMDM; 296453044; -.
DR jPOST; Q6ZMY9; -.
DR MassIVE; Q6ZMY9; -.
DR PaxDb; Q6ZMY9; -.
DR PeptideAtlas; Q6ZMY9; -.
DR PRIDE; Q6ZMY9; -.
DR Antibodypedia; 52855; 78 antibodies from 15 providers.
DR DNASU; 340385; -.
DR Ensembl; ENST00000359971.4; ENSP00000353058.3; ENSG00000197363.11.
DR Ensembl; ENST00000533965.5; ENSP00000435166.1; ENSG00000197363.11.
DR GeneID; 340385; -.
DR KEGG; hsa:340385; -.
DR MANE-Select; ENST00000359971.4; ENSP00000353058.3; NM_213605.3; NP_998770.2.
DR UCSC; uc003zed.1; human.
DR CTD; 340385; -.
DR GeneCards; ZNF517; -.
DR HGNC; HGNC:27984; ZNF517.
DR HPA; ENSG00000197363; Low tissue specificity.
DR neXtProt; NX_Q6ZMY9; -.
DR OpenTargets; ENSG00000197363; -.
DR PharmGKB; PA134889443; -.
DR VEuPathDB; HostDB:ENSG00000197363; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00950000182890; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q6ZMY9; -.
DR OMA; WGCLPGG; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q6ZMY9; -.
DR TreeFam; TF337055; -.
DR PathwayCommons; Q6ZMY9; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q6ZMY9; -.
DR BioGRID-ORCS; 340385; 13 hits in 1092 CRISPR screens.
DR GenomeRNAi; 340385; -.
DR Pharos; Q6ZMY9; Tdark.
DR PRO; PR:Q6ZMY9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q6ZMY9; protein.
DR Bgee; ENSG00000197363; Expressed in cortical plate and 94 other tissues.
DR ExpressionAtlas; Q6ZMY9; baseline and differential.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 8.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 5.
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 DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..492
FT /note="Zinc finger protein 517"
FT /id="PRO_0000047636"
FT DOMAIN 14..85
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 178..199
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 205..227
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 233..255
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 261..283
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 289..311
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 317..339
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 368..390
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 396..418
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 424..446
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 452..474
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 129..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 472..492
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 140..162
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 6
FT /note="P -> L (in dbSNP:rs2976649)"
FT /id="VAR_057425"
FT CONFLICT 198
FT /note="I -> V (in Ref. 1; BAD18586)"
FT /evidence="ECO:0000305"
FT CONFLICT 349
FT /note="V -> A (in Ref. 1; BAD18586)"
FT /evidence="ECO:0000305"
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
