ZN624_HUMAN
ID ZN624_HUMAN Reviewed; 865 AA.
AC Q9P2J8; Q3SY62; Q3SY63; Q6ZN27;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 16-JUN-2009, sequence version 3.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Zinc finger protein 624;
GN Name=ZNF624; Synonyms=KIAA1349;
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 2), AND VARIANT ASN-135.
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASN-135.
RC TISSUE=Tongue;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] SER-558.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q9P2J8; Q8TD16-2: BICD2; NbExp=3; IntAct=EBI-9116427, EBI-11975051;
CC Q9P2J8; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-9116427, EBI-5916454;
CC Q9P2J8; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-9116427, EBI-10176379;
CC Q9P2J8; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-9116427, EBI-742948;
CC Q9P2J8; Q5JR59-3: MTUS2; NbExp=6; IntAct=EBI-9116427, EBI-11522433;
CC Q9P2J8; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-9116427, EBI-79165;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9P2J8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2J8-2; Sequence=VSP_037538;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA92587.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB037770; BAA92587.1; ALT_INIT; mRNA.
DR EMBL; AK131401; BAD18548.1; -; mRNA.
DR EMBL; AC092714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098850; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC103943; AAI03944.1; -; mRNA.
DR EMBL; BC103944; AAI03945.1; -; mRNA.
DR EMBL; BC103946; AAI03947.1; -; mRNA.
DR CCDS; CCDS11180.1; -. [Q9P2J8-1]
DR RefSeq; NP_065838.2; NM_020787.3. [Q9P2J8-1]
DR RefSeq; XP_006721625.1; XM_006721562.3. [Q9P2J8-1]
DR AlphaFoldDB; Q9P2J8; -.
DR SMR; Q9P2J8; -.
DR BioGRID; 121605; 41.
DR IntAct; Q9P2J8; 17.
DR STRING; 9606.ENSP00000310472; -.
DR iPTMnet; Q9P2J8; -.
DR PhosphoSitePlus; Q9P2J8; -.
DR BioMuta; ZNF624; -.
DR DMDM; 239938815; -.
DR EPD; Q9P2J8; -.
DR jPOST; Q9P2J8; -.
DR MassIVE; Q9P2J8; -.
DR MaxQB; Q9P2J8; -.
DR PaxDb; Q9P2J8; -.
DR PeptideAtlas; Q9P2J8; -.
DR PRIDE; Q9P2J8; -.
DR ProteomicsDB; 83823; -. [Q9P2J8-1]
DR ProteomicsDB; 83824; -. [Q9P2J8-2]
DR Antibodypedia; 13281; 99 antibodies from 19 providers.
DR DNASU; 57547; -.
DR Ensembl; ENST00000311331.12; ENSP00000310472.7; ENSG00000197566.10. [Q9P2J8-1]
DR GeneID; 57547; -.
DR KEGG; hsa:57547; -.
DR MANE-Select; ENST00000311331.12; ENSP00000310472.7; NM_020787.4; NP_065838.2.
DR UCSC; uc010cpi.3; human. [Q9P2J8-1]
DR CTD; 57547; -.
DR DisGeNET; 57547; -.
DR GeneCards; ZNF624; -.
DR HGNC; HGNC:29254; ZNF624.
DR HPA; ENSG00000197566; Low tissue specificity.
DR neXtProt; NX_Q9P2J8; -.
DR OpenTargets; ENSG00000197566; -.
DR PharmGKB; PA134977006; -.
DR VEuPathDB; HostDB:ENSG00000197566; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163207; -.
DR HOGENOM; CLU_002678_17_1_1; -.
DR InParanoid; Q9P2J8; -.
DR OMA; GGLWKWN; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9P2J8; -.
DR TreeFam; TF343410; -.
DR PathwayCommons; Q9P2J8; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q9P2J8; -.
DR BioGRID-ORCS; 57547; 10 hits in 1090 CRISPR screens.
DR ChiTaRS; ZNF624; human.
DR GenomeRNAi; 57547; -.
DR Pharos; Q9P2J8; Tdark.
DR PRO; PR:Q9P2J8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9P2J8; protein.
DR Bgee; ENSG00000197566; Expressed in ventricular zone and 143 other tissues.
DR ExpressionAtlas; Q9P2J8; baseline and differential.
DR Genevisible; Q9P2J8; 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; 21.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 21.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 11.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 20.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 21.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..865
FT /note="Zinc finger protein 624"
FT /id="PRO_0000047695"
FT DOMAIN 54..125
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 276..298
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 304..326
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 332..354
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 360..382
FT /note="C2H2-type 4; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 388..410
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 416..438
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 444..466
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 472..494
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 500..522
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 528..550
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 556..578
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 584..606
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 612..634
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 640..662
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 668..690
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 696..718
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 724..746
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 752..774
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 780..802
FT /note="C2H2-type 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 808..830
FT /note="C2H2-type 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 836..858
FT /note="C2H2-type 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..126
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10718198,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_037538"
FT VARIANT 135
FT /note="K -> N (in dbSNP:rs8065506)"
FT /evidence="ECO:0000269|PubMed:10718198,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_058001"
FT VARIANT 558
FT /note="C -> S (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035592"
FT CONFLICT 576
FT /note="R -> C (in Ref. 2; BAD18548)"
FT /evidence="ECO:0000305"
FT CONFLICT 747
FT /note="S -> T (in Ref. 4; AAI03947)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 865 AA; 99929 MW; 12BB2E9410FFF91F CRC64;
MSLQDSTLSR EGKPEGEIMA AVFFSVGRLS PEVTQPDEDL HLQAEETQLV KESVTFKDVA
IDFTLEEWRL MDPTQRNLHK DVMLENYRNL VSLGLAVSKP DMISHLENGK GPWVTVREIS
RIPYPDMEPK PATKKATRTK AISEDLSQEA ILEKLTENGL WDSRMEGLWK WNDRILRLQN
NQENHLSQRI IPLKKTPTSQ RGFRFESILI PEPGIATEEL HSRCQTQEEN FTENLNLITD
THLGKIICKE MKGSKAIRQT SELTLGKKSN NKEKPYKCST CEKAFHYRSL LIQHQRTHTK
EKPYECNECG KTFSQPSYLS QHKKIHTGEK PYKCNECGKA FIASSSLMVH QRIHTKEKPY
QCNVCGKSFS QCARLNQHQR IQTGEKPYKC SECGKAFSDK SKLARHQETH NGEKPYKCDD
CGKAFRNKSY LSVHQKTHTE EKPYQCNECG KSFKNTTIFN VHQRIHTGEK PFRCNECGKA
YRSNSSLIVH IRTHTGEKPY ECNECGKAFN RIANFTEHQR IHTGEKPYKC NECGKAFINY
SCLTVHHRMH TGEKPYKCTE CGKAFMRSSS LIIHQRIHTE EKPYLCNECG ESFRIKSHLT
VHQRIHTGEK PYKCTDCERA FTKMVNLKEH QKIHTGVKPY KCYDCGKSFR TKSYLIVHQR
THTGEKPYKC NECEKAFTNT SQLTVHQRRH TGEKPYKCNE CGKVFTSNSG FNTHQRTHTG
EKPFKCNDCG KAFSQMVHVT EHQKIHSGEK PYKCDVCGKA FRRGSYLTVH WRTHTGEKPY
TCKECGKGCI TLSQLTLHQR IHTGERPYKC EECGKAFRTN SDFTVHLRMH TGEKPYKCNE
CGKAFRSSSS LTVHQRIHQR ETQLI
