ZN480_HUMAN
ID ZN480_HUMAN Reviewed; 535 AA.
AC Q8WV37; Q5JPG9; Q6P0Q4; Q8N1M5;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Zinc finger protein 480;
GN Name=ZNF480;
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 [MRNA] (ISOFORM 1), FUNCTION IN TRANSCRIPTIONAL
RP ACTIVATION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Embryonic heart;
RX PubMed=15219843; DOI=10.1016/j.bbrc.2004.05.182;
RA Yi Z., Li Y., Ma W., Li D., Zhu C., Luo J., Wang Y., Huang X., Yuan W.,
RA Liu M., Wu X.;
RT "A novel KRAB zinc-finger protein, ZNF480, expresses in human heart and
RT activates transcriptional activities of AP-1 and SRE.";
RL Biochem. Biophys. Res. Commun. 320:409-415(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Fetal brain, and 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 MRNA] (ISOFORM 2).
RC TISSUE=Fetal 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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye, and Testis;
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 [6]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-122; LYS-125; LYS-195 AND
RP LYS-220, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] GLN-361.
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: Involved in transcriptional regulation as an activator.
CC {ECO:0000269|PubMed:15219843}.
CC -!- INTERACTION:
CC Q8WV37; O95273: CCNDBP1; NbExp=3; IntAct=EBI-8490675, EBI-748961;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15219843}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WV37-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WV37-2; Sequence=VSP_016214;
CC Name=3;
CC IsoId=Q8WV37-3; Sequence=VSP_016215;
CC -!- TISSUE SPECIFICITY: Expressed in fetal heart, heart, skeletal muscle,
CC pancreas and placenta. {ECO:0000269|PubMed:15219843}.
CC -!- DEVELOPMENTAL STAGE: Expressed in heart as early as the 24th week of
CC gestation. {ECO:0000269|PubMed:15219843}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-20 is the initiator. A
CC 'GT' insertion (rs59214675) allows to extend the sequence in the N-
CC terminus. The majority of mRNAs do not have this insertion and the
CC corresponding protein sequences start at Met-20. {ECO:0000305}.
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DR EMBL; AY512662; AAR97581.1; -; mRNA.
DR EMBL; AK096442; BAC04792.1; -; mRNA.
DR EMBL; AK096559; BAC04817.1; -; mRNA.
DR EMBL; AL832560; CAI46140.1; -; mRNA.
DR EMBL; AC010320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018783; AAH18783.1; -; mRNA.
DR EMBL; BC065503; AAH65503.1; -; mRNA.
DR CCDS; CCDS12850.2; -. [Q8WV37-1]
DR CCDS; CCDS74437.1; -. [Q8WV37-2]
DR RefSeq; NP_001284553.1; NM_001297624.1.
DR RefSeq; NP_001284554.1; NM_001297625.1. [Q8WV37-2]
DR RefSeq; NP_653285.2; NM_144684.3. [Q8WV37-1]
DR RefSeq; XP_011524767.1; XM_011526465.2. [Q8WV37-1]
DR AlphaFoldDB; Q8WV37; -.
DR SMR; Q8WV37; -.
DR BioGRID; 127068; 7.
DR IntAct; Q8WV37; 2.
DR MINT; Q8WV37; -.
DR STRING; 9606.ENSP00000471754; -.
DR iPTMnet; Q8WV37; -.
DR PhosphoSitePlus; Q8WV37; -.
DR BioMuta; ZNF480; -.
DR DMDM; 296453042; -.
DR EPD; Q8WV37; -.
DR jPOST; Q8WV37; -.
DR MassIVE; Q8WV37; -.
DR MaxQB; Q8WV37; -.
DR PaxDb; Q8WV37; -.
DR PeptideAtlas; Q8WV37; -.
DR PRIDE; Q8WV37; -.
DR ProteomicsDB; 74743; -. [Q8WV37-1]
DR ProteomicsDB; 74744; -. [Q8WV37-2]
DR ProteomicsDB; 74745; -. [Q8WV37-3]
DR Antibodypedia; 32583; 124 antibodies from 18 providers.
DR DNASU; 147657; -.
DR Ensembl; ENST00000335090.6; ENSP00000335670.6; ENSG00000198464.14. [Q8WV37-2]
DR Ensembl; ENST00000468240.6; ENSP00000417424.1; ENSG00000198464.14. [Q8WV37-1]
DR Ensembl; ENST00000595962.6; ENSP00000471754.1; ENSG00000198464.14. [Q8WV37-1]
DR GeneID; 147657; -.
DR KEGG; hsa:147657; -.
DR MANE-Select; ENST00000595962.6; ENSP00000471754.1; NM_144684.4; NP_653285.2.
DR UCSC; uc010ydl.3; human. [Q8WV37-1]
DR CTD; 147657; -.
DR DisGeNET; 147657; -.
DR GeneCards; ZNF480; -.
DR HGNC; HGNC:23305; ZNF480.
DR HPA; ENSG00000198464; Low tissue specificity.
DR MIM; 613910; gene.
DR neXtProt; NX_Q8WV37; -.
DR OpenTargets; ENSG00000198464; -.
DR PharmGKB; PA134876563; -.
DR VEuPathDB; HostDB:ENSG00000198464; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163746; -.
DR HOGENOM; CLU_002678_94_1_1; -.
DR InParanoid; Q8WV37; -.
DR OMA; HWTTHTR; -.
DR PhylomeDB; Q8WV37; -.
DR TreeFam; TF341892; -.
DR PathwayCommons; Q8WV37; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8WV37; -.
DR BioGRID-ORCS; 147657; 21 hits in 1092 CRISPR screens.
DR ChiTaRS; ZNF480; human.
DR GenomeRNAi; 147657; -.
DR Pharos; Q8WV37; Tdark.
DR PRO; PR:Q8WV37; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8WV37; protein.
DR Bgee; ENSG00000198464; Expressed in granulocyte and 92 other tissues.
DR ExpressionAtlas; Q8WV37; baseline and differential.
DR Genevisible; Q8WV37; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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; 11.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 12.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 12.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..535
FT /note="Zinc finger protein 480"
FT /id="PRO_0000047607"
FT DOMAIN 27..98
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 203..225
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 231..253
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 259..281
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 287..309
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 315..337
FT /note="C2H2-type 5; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 343..365
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 371..393
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 399..421
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 427..449
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 455..477
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 483..505
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 511..533
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 122
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 125
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 195
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 220
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 1..169
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_016215"
FT VAR_SEQ 1..77
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_016214"
FT VARIANT 177
FT /note="P -> S (in dbSNP:rs13343641)"
FT /id="VAR_033569"
FT VARIANT 361
FT /note="H -> Q (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035584"
SQ SEQUENCE 535 AA; 61708 MW; 444D121FE8B9C44C CRC64;
MLCDEKAQKR RKRKAKESGM ALPQGHLTFR DVAIEFSQAE WKCLDPAQRA LYKDVMLENY
RNLVSLGISL PDLNINSMLE QRREPWSGES EVKIAKNSDG RECIKGVNTG SSYALGSNAE
DKPIKKQLGV SFHLHLSELE LFPDERVING CNQVENFINH SSSVSCLQEM SSSVKTPIFN
RNDFDDSSFL PQEQKVHLRE KPYECNEHSK VFRVSSSLTK HQVIHTVEKP YKCNSCGKVF
SRNSHLAEHC RIHTGEKPYK CNVCGKVFSY NSNFARHQRI HTREKPYECN ECGKVFSNNS
YLARHQRIHA EEKPYKCNEC GKGFSHKSSL ANHWRIYTGE KPYKCDECGK AFYRIALLVR
HQKIHTGEKP YKCNECGKVF IQNSHLAQHW RIHTGEKPYK CNECGKVFNQ LSNLARHRRI
HTGEKPYKCN ECGKAFSEYS GLSAHLVIHT GEKPYKCSEC GKAFRHKLSL TNHQRIHTGE
RPYKCNECGK VFNRIAHLAR HRKIHTGEKP YKCNECGKAF SRISYLAQHW TIHMG
