ZN783_HUMAN
ID ZN783_HUMAN Reviewed; 546 AA.
AC Q6ZMS7; C9J9J2;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Zinc finger protein 783 {ECO:0000312|HGNC:HGNC:27222};
GN Name=ZNF783 {ECO:0000312|HGNC:HGNC:27222};
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).
RC TISSUE=Uterus;
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [4]
RP VARIANT CYS-63.
RX PubMed=22464252; DOI=10.1016/j.ajhg.2012.03.004;
RA Lee H., Graham J.M. Jr., Rimoin D.L., Lachman R.S., Krejci P.,
RA Tompson S.W., Nelson S.F., Krakow D., Cohn D.H.;
RT "Exome sequencing identifies PDE4D mutations in acrodysostosis.";
RL Am. J. Hum. Genet. 90:746-751(2012).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q6ZMS7; Q96KN8-3: PLAAT5; NbExp=3; IntAct=EBI-10254978, EBI-10290304;
CC Q6ZMS7; Q9UDV6: ZNF212; NbExp=5; IntAct=EBI-10254978, EBI-1640204;
CC Q6ZMS7; Q8TD17: ZNF398; NbExp=4; IntAct=EBI-10254978, EBI-8643207;
CC Q6ZMS7-2; Q7L2H7: EIF3M; NbExp=3; IntAct=EBI-17789949, EBI-353901;
CC Q6ZMS7-2; Q13526: PIN1; NbExp=3; IntAct=EBI-17789949, EBI-714158;
CC Q6ZMS7-2; Q9UDV6: ZNF212; NbExp=3; IntAct=EBI-17789949, EBI-1640204;
CC Q6ZMS7-2; Q8TD17: ZNF398; NbExp=3; IntAct=EBI-17789949, EBI-8643207;
CC Q6ZMS7-2; Q6ZMS7-2: ZNF783; NbExp=3; IntAct=EBI-17789949, EBI-17789949;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2;
CC IsoId=Q6ZMS7-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q6ZMS7-1; Sequence=VSP_061289, VSP_061290;
CC -!- MISCELLANEOUS: [Isoform 2]: Gene prediction based on partial EST data.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 1]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AK131504; BAD18648.1; -; mRNA.
DR EMBL; AC004890; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS56519.1; -. [Q6ZMS7-2]
DR RefSeq; NP_001182149.1; NM_001195220.1. [Q6ZMS7-2]
DR AlphaFoldDB; Q6ZMS7; -.
DR SMR; Q6ZMS7; -.
DR BioGRID; 941329; 11.
DR IntAct; Q6ZMS7; 7.
DR STRING; 9606.ENSP00000410890; -.
DR iPTMnet; Q6ZMS7; -.
DR PhosphoSitePlus; Q6ZMS7; -.
DR BioMuta; ZNF783; -.
DR DMDM; 74722910; -.
DR EPD; Q6ZMS7; -.
DR MassIVE; Q6ZMS7; -.
DR PaxDb; Q6ZMS7; -.
DR PeptideAtlas; Q6ZMS7; -.
DR PRIDE; Q6ZMS7; -.
DR Antibodypedia; 10415; 73 antibodies from 11 providers.
DR DNASU; 100289678; -.
DR Ensembl; ENST00000378052.5; ENSP00000367291.1; ENSG00000204946.10. [Q6ZMS7-1]
DR Ensembl; ENST00000434415.6; ENSP00000410890.1; ENSG00000204946.10. [Q6ZMS7-2]
DR Ensembl; ENST00000476295.5; ENSP00000418666.1; ENSG00000204946.10. [Q6ZMS7-1]
DR GeneID; 100289678; -.
DR KEGG; hsa:100289678; -.
DR MANE-Select; ENST00000434415.6; ENSP00000410890.1; NM_001195220.2; NP_001182149.1.
DR UCSC; uc011kuo.3; human. [Q6ZMS7-2]
DR CTD; 100289678; -.
DR DisGeNET; 100289678; -.
DR GeneCards; ZNF783; -.
DR HGNC; HGNC:27222; ZNF783.
DR HPA; ENSG00000204946; Low tissue specificity.
DR neXtProt; NX_Q6ZMS7; -.
DR OpenTargets; ENSG00000204946; -.
DR PharmGKB; PA162410441; -.
DR VEuPathDB; HostDB:ENSG00000204946; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162942; -.
DR HOGENOM; CLU_002678_76_3_1; -.
DR InParanoid; Q6ZMS7; -.
DR OMA; RGQTECR; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q6ZMS7; -.
DR TreeFam; TF337777; -.
DR PathwayCommons; Q6ZMS7; -.
DR SignaLink; Q6ZMS7; -.
DR BioGRID-ORCS; 100289678; 13 hits in 1096 CRISPR screens.
DR ChiTaRS; ZNF783; human.
DR GenomeRNAi; 100289678; -.
DR Pharos; Q6ZMS7; Tdark.
DR PRO; PR:Q6ZMS7; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6ZMS7; protein.
DR Bgee; ENSG00000204946; Expressed in pancreatic ductal cell and 168 other tissues.
DR Genevisible; Q6ZMS7; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
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; IPR003655; aKRAB.
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; 3.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 4.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 3.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 4.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Coiled coil; DNA-binding; Metal-binding;
KW Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:19413330"
FT CHAIN 2..546
FT /note="Zinc finger protein 783"
FT /id="PRO_0000270995"
FT DOMAIN 143..214
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 349..371
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 436..458
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 466..488
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 494..516
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 218..270
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 291..344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 372..391
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 527..546
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 48..124
FT /evidence="ECO:0000255"
FT COMPBIAS 1..18
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:19413330"
FT VAR_SEQ 268..281
FT /note="GGGVAIKTEAQSED -> GLALRTDLQGEAQI (in isoform 1)"
FT /id="VSP_061289"
FT VAR_SEQ 282..546
FT /note="Missing (in isoform 1)"
FT /id="VSP_061290"
FT VARIANT 63
FT /note="R -> C (in dbSNP:rs764239191)"
FT /evidence="ECO:0000269|PubMed:22464252"
FT /id="VAR_069466"
SQ SEQUENCE 546 AA; 61014 MW; F5779538A80B8065 CRC64;
MAEAAPARDP ETDKHTEDQS PSTPLPQPAA EKNSYLYSTE ITLWTVVAAI QALEKKVDSC
LTRLLTLEGR TGTAEKKLAD CEKTAVEFGN QLEGKWAVLG TLLQEYGLLQ RRLENVENLL
RNRNFWILRL PPGSKGEAPK VPVTFDDVAV YFSELEWGKL EDWQKELYKH VMRGNYETLV
SLDYAISKPD ILTRIERGEE PCLDRWGQEK GNEVEVGRPR MMGTGLPPYP EHLTSPLSPA
QEELKEGQAP KQQQDSEARV APAGPEAGGG VAIKTEAQSE DEMTPERLFL GVSRGQTECR
IPRGPRNRPG GPSRHQAQGM PRVRAGEPRP PGASGETPRV LSRRRQRAFP CPDCGQSFRL
KINLTIHQRT HVEEGRQEAP GRSPTSCGDS QAMLEPGEVV VPGPVIRWLP EEPEGRRSVA
GGRALVGRRP AASKMYHCSE CLRFFQQRKS LLLHQRLHTG NGQGWPACPY CGKAFRRPSD
LFRHQRIHTG ERPYQCPQCG RTFNRNHHLA VHMQTHARGQ VGPHFPAAPA RHGSLPLPWP
SRKEEG
