ZN630_HUMAN
ID ZN630_HUMAN Reviewed; 657 AA.
AC Q2M218; F8WAG4; Q5H8Z5;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-FEB-2006, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Zinc finger protein 630;
GN Name=ZNF630;
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 GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 1-146 (ISOFORM 2).
RC TISSUE=Fetal brain;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
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=Q2M218-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2M218-2; Sequence=VSP_046855;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; Z98304; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471164; EAW59337.1; -; Genomic_DNA.
DR EMBL; BC112139; AAI12140.3; -; mRNA.
DR EMBL; BX419623; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS35237.2; -. [Q2M218-1]
DR RefSeq; NP_001032824.2; NM_001037735.3. [Q2M218-1]
DR RefSeq; NP_001177184.1; NM_001190255.2. [Q2M218-2]
DR RefSeq; NP_001269130.1; NM_001282201.1. [Q2M218-1]
DR RefSeq; NP_001269131.1; NM_001282202.1.
DR AlphaFoldDB; Q2M218; -.
DR SMR; Q2M218; -.
DR STRING; 9606.ENSP00000393163; -.
DR iPTMnet; Q2M218; -.
DR PhosphoSitePlus; Q2M218; -.
DR BioMuta; ZNF630; -.
DR DMDM; 97219357; -.
DR jPOST; Q2M218; -.
DR MassIVE; Q2M218; -.
DR MaxQB; Q2M218; -.
DR PaxDb; Q2M218; -.
DR PeptideAtlas; Q2M218; -.
DR PRIDE; Q2M218; -.
DR ProteomicsDB; 30492; -.
DR ProteomicsDB; 61344; -. [Q2M218-1]
DR Antibodypedia; 25543; 52 antibodies from 15 providers.
DR DNASU; 57232; -.
DR Ensembl; ENST00000276054.9; ENSP00000354683.4; ENSG00000221994.12. [Q2M218-1]
DR Ensembl; ENST00000409324.7; ENSP00000386393.3; ENSG00000221994.12. [Q2M218-1]
DR GeneID; 57232; -.
DR KEGG; hsa:57232; -.
DR MANE-Select; ENST00000276054.9; ENSP00000354683.4; NM_001282201.2; NP_001269130.1.
DR UCSC; uc004div.5; human. [Q2M218-1]
DR CTD; 57232; -.
DR DisGeNET; 57232; -.
DR GeneCards; ZNF630; -.
DR HGNC; HGNC:28855; ZNF630.
DR HPA; ENSG00000221994; Low tissue specificity.
DR MIM; 300819; gene.
DR neXtProt; NX_Q2M218; -.
DR OpenTargets; ENSG00000221994; -.
DR PharmGKB; PA134889031; -.
DR VEuPathDB; HostDB:ENSG00000221994; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163698; -.
DR InParanoid; Q2M218; -.
DR OMA; MITYQRT; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q2M218; -.
DR TreeFam; TF337898; -.
DR PathwayCommons; Q2M218; -.
DR BioGRID-ORCS; 57232; 17 hits in 717 CRISPR screens.
DR GenomeRNAi; 57232; -.
DR Pharos; Q2M218; Tdark.
DR PRO; PR:Q2M218; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q2M218; protein.
DR Bgee; ENSG00000221994; Expressed in islet of Langerhans and 121 other tissues.
DR ExpressionAtlas; Q2M218; baseline and differential.
DR Genevisible; Q2M218; 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; 10.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 13.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..657
FT /note="Zinc finger protein 630"
FT /id="PRO_0000234603"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 263..285
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 291..313
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 319..341
FT /note="C2H2-type 3; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 347..369
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 375..397
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 403..425
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 431..453
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 459..481
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 487..509
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 515..537
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 543..565
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 571..593
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 599..621
FT /note="C2H2-type 13; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 627..649
FT /note="C2H2-type 14; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 7..20
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_046855"
FT CONFLICT 146
FT /note="T -> H (in Ref. 4; BX419623)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 657 AA; 76094 MW; 0902CC9CE709EE7B CRC64;
MIESQEPVTF EDVAVDFTQE EWQQLNPAQK TLHRDVMLET YNHLVSVGCS GIKPDVIFKL
EHGKDPWIIE SELSRWIYPD RVKGLESSQQ IISGELLFQR EILERAPKDN SLYSVLKIWH
IDNQMDRYQG NQDRVLRQVT VISRETLTDE MGSKYSAFGK MFNRCTDLAP LSQKFHKFDS
CENSLKSNSD LLNYNRSYAR KNPTKRFRCG RPPKYNASCS VPEKEGFIHT GMEPYGDSQC
EKVLSHKQAH VQYKKFQARE KPNVCSMCGK AFIKKSQLII HQRIHTGEKP YVCGDCRKAF
SEKSHLIVHQ RIHTGEKPYE CTKYGRAFSR KSPFTVHQRV HTGEKPYECF ECPKAFSQKS
HLIIHQRVHT REKPFECSEC RKAFCEMSHL FIHQITHTGK KPYECTECGK TFPRKTQLII
HQRTHTGEKP YKCGECGKTF CQQSHLIGHQ RIHTGEKPYV CTDCGKAFSQ KSHLTGHQRL
HTGEKPYMCT ECGKSFSQKS PLIIHQRIHT GEKPYQCGEC GKTFSQKSLL IIHLRVHTGE
KPYECTECGR AFSLKSHLIL HQRGHTGEKP YECSECGKAF CGKSPLIIHQ KTHPREKTPE
CAESGMTFFW KSQMITYQRR HTGEKPSRCS DCGKAFCQHV YFTGHQNPYR KDTLYIC
