ZN610_HUMAN
ID ZN610_HUMAN Reviewed; 462 AA.
AC Q8N9Z0; A8K4C3; Q86YH8; Q8NDS9;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Zinc finger protein 610;
GN Name=ZNF610;
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] (ISOFORM 1), AND VARIANTS SER-131
RP AND PRO-216.
RC TISSUE=Testis;
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], AND VARIANT SER-131.
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., 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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP PRO-216.
RC TISSUE=Eye, and Skin;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 247-462.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9Z0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9Z0-2; Sequence=VSP_018387;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK290888; BAF83577.1; -; mRNA.
DR EMBL; AK093359; BAC04144.1; -; mRNA.
DR EMBL; AC010320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039903; AAH39903.1; -; mRNA.
DR EMBL; BC105967; AAI05968.1; -; mRNA.
DR EMBL; AL831871; CAD38559.1; -; mRNA.
DR CCDS; CCDS12851.1; -. [Q8N9Z0-1]
DR CCDS; CCDS54309.1; -. [Q8N9Z0-2]
DR RefSeq; NP_001154897.1; NM_001161425.1. [Q8N9Z0-1]
DR RefSeq; NP_001154898.1; NM_001161426.1. [Q8N9Z0-1]
DR RefSeq; NP_001154899.1; NM_001161427.1. [Q8N9Z0-2]
DR RefSeq; NP_775801.2; NM_173530.2. [Q8N9Z0-1]
DR AlphaFoldDB; Q8N9Z0; -.
DR SMR; Q8N9Z0; -.
DR BioGRID; 127832; 7.
DR IntAct; Q8N9Z0; 3.
DR STRING; 9606.ENSP00000383922; -.
DR iPTMnet; Q8N9Z0; -.
DR PhosphoSitePlus; Q8N9Z0; -.
DR BioMuta; ZNF610; -.
DR DMDM; 229462790; -.
DR EPD; Q8N9Z0; -.
DR jPOST; Q8N9Z0; -.
DR MassIVE; Q8N9Z0; -.
DR MaxQB; Q8N9Z0; -.
DR PaxDb; Q8N9Z0; -.
DR PeptideAtlas; Q8N9Z0; -.
DR PRIDE; Q8N9Z0; -.
DR ProteomicsDB; 72610; -. [Q8N9Z0-1]
DR ProteomicsDB; 72611; -. [Q8N9Z0-2]
DR Antibodypedia; 19097; 88 antibodies from 17 providers.
DR DNASU; 162963; -.
DR Ensembl; ENST00000321287.12; ENSP00000324441.8; ENSG00000167554.15. [Q8N9Z0-1]
DR Ensembl; ENST00000327920.12; ENSP00000327597.7; ENSG00000167554.15. [Q8N9Z0-1]
DR Ensembl; ENST00000403906.8; ENSP00000383922.2; ENSG00000167554.15. [Q8N9Z0-1]
DR Ensembl; ENST00000601151.5; ENSP00000471021.1; ENSG00000167554.15. [Q8N9Z0-2]
DR Ensembl; ENST00000613461.3; ENSP00000477617.1; ENSG00000167554.15. [Q8N9Z0-2]
DR Ensembl; ENST00000616431.2; ENSP00000485001.1; ENSG00000167554.15. [Q8N9Z0-1]
DR GeneID; 162963; -.
DR KEGG; hsa:162963; -.
DR MANE-Select; ENST00000403906.8; ENSP00000383922.2; NM_001161425.2; NP_001154897.1.
DR UCSC; uc002pyx.5; human. [Q8N9Z0-1]
DR CTD; 162963; -.
DR DisGeNET; 162963; -.
DR GeneCards; ZNF610; -.
DR HGNC; HGNC:26687; ZNF610.
DR HPA; ENSG00000167554; Low tissue specificity.
DR neXtProt; NX_Q8N9Z0; -.
DR OpenTargets; ENSG00000167554; -.
DR PharmGKB; PA134963099; -.
DR VEuPathDB; HostDB:ENSG00000167554; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163746; -.
DR HOGENOM; CLU_002678_0_7_1; -.
DR InParanoid; Q8N9Z0; -.
DR OMA; CVRSANT; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8N9Z0; -.
DR TreeFam; TF341892; -.
DR PathwayCommons; Q8N9Z0; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8N9Z0; -.
DR BioGRID-ORCS; 162963; 11 hits in 1091 CRISPR screens.
DR ChiTaRS; ZNF610; human.
DR GenomeRNAi; 162963; -.
DR Pharos; Q8N9Z0; Tdark.
DR PRO; PR:Q8N9Z0; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N9Z0; protein.
DR Bgee; ENSG00000167554; Expressed in oocyte and 127 other tissues.
DR ExpressionAtlas; Q8N9Z0; baseline and differential.
DR Genevisible; Q8N9Z0; HS.
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:0000978; F:RNA polymerase II cis-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; 9.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 9.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..462
FT /note="Zinc finger protein 610"
FT /id="PRO_0000234595"
FT DOMAIN 24..95
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 204..226
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 232..254
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 260..282
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 288..310
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 316..338
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 344..366
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 372..394
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 400..422
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 428..450
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 119
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0000250|UniProtKB:Q8WV37"
FT CROSSLNK 122
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0000250|UniProtKB:Q8WV37"
FT CROSSLNK 194
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0000250|UniProtKB:Q8WV37"
FT VAR_SEQ 65..107
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018387"
FT VARIANT 104
FT /note="V -> M (in dbSNP:rs3815905)"
FT /id="VAR_052873"
FT VARIANT 131
FT /note="A -> S (in dbSNP:rs2241586)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15057824"
FT /id="VAR_052874"
FT VARIANT 216
FT /note="R -> P (in dbSNP:rs321937)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_033582"
FT VARIANT 298
FT /note="R -> I (in dbSNP:rs7343101)"
FT /id="VAR_052875"
SQ SEQUENCE 462 AA; 53489 MW; 610D482D57C7A65D CRC64;
MLCDEEAQKR KAKESGMALP QGRLTFMDVA IEFSQEEWKS LDPGQRALYR DVMLENYRNL
VFLGICLPDL SIISMLKQRR EPLILQSQVK IVKNTDGREC VRSVNTGRSC VLGSNAENKP
IKNQLGLTLE AHLSELQLFQ AGRKIYRSNQ VEKFTNHRSS VSPLQKISSS FTTHIFNKYR
NDLIDFPLLP QEEKAYIRGK SYEYECSEDG EVFRVRASLT NHQVIHTAEK PYKCTECGKV
FSRNSHLVEH WRIHTGQKPY KCSECDKVFN RNSNLARHQR IHTGEKPHKC NECGKAFREC
SGLTTHLVIH TGEKPYKCNE CGKNFRHKFS LTNHQRSHTA EKPYKCNECG KVFSLLSYLA
RHQIIHSTEK PYKCNECGRA FHKRPGLMAH LLIHTGEKPY KCNECDKVFG RKLYLTNHQR
IHTGERPYKC NACGKVFNQN PHLSRHRKIH AGENSLRTLQ ME
