ZN483_HUMAN
ID ZN483_HUMAN Reviewed; 744 AA.
AC Q8TF39; Q5VZN2; Q8NAE1;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 3.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Zinc finger protein 483;
DE AltName: Full=Zinc finger protein with KRAB and SCAN domains 16;
GN Name=ZNF483; Synonyms=KIAA1962, ZKSCAN16;
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=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII. The
RT complete sequences of 50 new cDNA clones which code for large proteins.";
RL DNA Res. 8:319-327(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Small intestine;
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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP STRUCTURE BY NMR OF 379-438.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of zinc finger domain from human zinc finger protein
RT 483.";
RL Submitted (NOV-2005) to the PDB data bank.
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=Q8TF39-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TF39-2; Sequence=VSP_043023, VSP_043024;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB85548.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB075842; BAB85548.1; ALT_INIT; mRNA.
DR EMBL; AK092811; BAC03981.1; -; mRNA.
DR EMBL; AK291267; BAF83956.1; -; mRNA.
DR EMBL; AL159168; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL135787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW59073.1; -; Genomic_DNA.
DR EMBL; BC136695; AAI36696.1; -; mRNA.
DR EMBL; BC136696; AAI36697.1; -; mRNA.
DR CCDS; CCDS35105.1; -. [Q8TF39-2]
DR CCDS; CCDS35106.1; -. [Q8TF39-1]
DR RefSeq; NP_001007170.1; NM_001007169.3. [Q8TF39-2]
DR RefSeq; NP_597721.2; NM_133464.3. [Q8TF39-1]
DR RefSeq; XP_011516602.1; XM_011518300.2. [Q8TF39-1]
DR RefSeq; XP_016869826.1; XM_017014337.1. [Q8TF39-1]
DR RefSeq; XP_016869827.1; XM_017014338.1. [Q8TF39-1]
DR PDB; 2CTU; NMR; -; A=379-438.
DR PDBsum; 2CTU; -.
DR AlphaFoldDB; Q8TF39; -.
DR SMR; Q8TF39; -.
DR BioGRID; 127677; 57.
DR IntAct; Q8TF39; 27.
DR STRING; 9606.ENSP00000311679; -.
DR iPTMnet; Q8TF39; -.
DR PhosphoSitePlus; Q8TF39; -.
DR BioMuta; ZNF483; -.
DR DMDM; 205641226; -.
DR EPD; Q8TF39; -.
DR jPOST; Q8TF39; -.
DR MassIVE; Q8TF39; -.
DR PaxDb; Q8TF39; -.
DR PeptideAtlas; Q8TF39; -.
DR PRIDE; Q8TF39; -.
DR ProteomicsDB; 74547; -. [Q8TF39-1]
DR ProteomicsDB; 74548; -. [Q8TF39-2]
DR ABCD; Q8TF39; 2 sequenced antibodies.
DR Antibodypedia; 29572; 120 antibodies from 22 providers.
DR DNASU; 158399; -.
DR Ensembl; ENST00000309235.6; ENSP00000311679.5; ENSG00000173258.13. [Q8TF39-1]
DR Ensembl; ENST00000358151.8; ENSP00000350871.4; ENSG00000173258.13. [Q8TF39-2]
DR GeneID; 158399; -.
DR KEGG; hsa:158399; -.
DR MANE-Select; ENST00000309235.6; ENSP00000311679.5; NM_133464.5; NP_597721.2.
DR UCSC; uc004bff.4; human. [Q8TF39-1]
DR CTD; 158399; -.
DR DisGeNET; 158399; -.
DR GeneCards; ZNF483; -.
DR HGNC; HGNC:23384; ZNF483.
DR HPA; ENSG00000173258; Tissue enhanced (brain).
DR neXtProt; NX_Q8TF39; -.
DR OpenTargets; ENSG00000173258; -.
DR PharmGKB; PA134897404; -.
DR VEuPathDB; HostDB:ENSG00000173258; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162615; -.
DR HOGENOM; CLU_002678_49_8_1; -.
DR InParanoid; Q8TF39; -.
DR OMA; VPNRKEH; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8TF39; -.
DR TreeFam; TF350807; -.
DR PathwayCommons; Q8TF39; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8TF39; -.
DR BioGRID-ORCS; 158399; 7 hits in 1092 CRISPR screens.
DR ChiTaRS; ZNF483; human.
DR EvolutionaryTrace; Q8TF39; -.
DR GenomeRNAi; 158399; -.
DR Pharos; Q8TF39; Tdark.
DR PRO; PR:Q8TF39; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8TF39; protein.
DR Bgee; ENSG00000173258; Expressed in endothelial cell and 172 other tissues.
DR ExpressionAtlas; Q8TF39; baseline and differential.
DR Genevisible; Q8TF39; 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 CDD; cd07936; SCAN; 1.
DR Gene3D; 1.10.4020.10; -; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR003309; SCAN_dom.
DR InterPro; IPR038269; SCAN_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF02023; SCAN; 1.
DR Pfam; PF00096; zf-C2H2; 10.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00431; SCAN; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS50804; SCAN_BOX; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..744
FT /note="Zinc finger protein 483"
FT /id="PRO_0000047610"
FT DOMAIN 52..134
FT /note="SCAN box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00187"
FT DOMAIN 170..241
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 439..461
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 467..489
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 495..517
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 523..545
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 551..573
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 579..601
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 607..629
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 635..657
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 663..685
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 691..713
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 719..741
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 137..156
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 263..308
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 350..385
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 264..294
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 350..364
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 242..256
FT /note="ESALDKIIERCLRDD -> IHGAVKKMQMFSEAE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043023"
FT VAR_SEQ 257..744
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043024"
FT CONFLICT 436
FT /note="E -> K (in Ref. 1; BAB85548)"
FT /evidence="ECO:0000305"
FT STRAND 388..391
FT /evidence="ECO:0007829|PDB:2CTU"
FT STRAND 393..395
FT /evidence="ECO:0007829|PDB:2CTU"
FT STRAND 398..400
FT /evidence="ECO:0007829|PDB:2CTU"
FT STRAND 408..410
FT /evidence="ECO:0007829|PDB:2CTU"
FT HELIX 414..418
FT /evidence="ECO:0007829|PDB:2CTU"
SQ SEQUENCE 744 AA; 85098 MW; 19B1CCD3BE1C53D0 CRC64;
MQAVVPLNKM TAISPEPQTL ASTEQNEVPR VVTSGEQEAI LRGNAADAES FRQRFRWFCY
SEVAGPRKAL SQLWELCNQW LRPDIHTKEQ ILELLVFEQF LTILPGEIRI WVKSQHPESS
EEVVTLIEDL TQMLEEKDPV SQDSTVSQEE NSKEDKMVTV CPNTESCESI TLKDVAVNFS
RGEWKKLEPF QKELYKEVLL ENLRNLEFLD FPVSKLELIS QLKWVELPWL LEEVSKSSRL
DESALDKIIE RCLRDDDHGL MEESQQYCGS SEEDHGNQGN SKGRVAQNKT LGSGSRGKKF
DPDKSPFGHN FKETSDLIKH LRVYLRKKSR RYNESKKPFS FHSDLVLNRK EKTAGEKSRK
SNDGGKVLSH SSALTEHQKR QKIHLGDRSQ KCSKCGIIFI RRSTLSRRKT PMCEKCRKDS
CQEAALNKDE GNESGEKTHK CSKCGKAFGY SASLTKHRRI HTGEKPYMCN ECGKAFSDSS
SLTPHHRTHS GEKPFKCDDC GKGFTLSAHL IKHQRIHTGE KPYKCKDCGR PFSDSSSLIQ
HQRIHTGEKP YTCSNCGKSF SHSSSLSKHQ RIHTGEKPYK CGECGKAFRQ NSCLTRHQRI
HTGEKPYLCN DCGMTFSHFT SVIYHQRLHS GEKPYKCNQC EKAFPTHSLL SRHQRIHTGV
KPYKCKECGK SFSQSSSLNE HHRIHTGEKP YECNYCGATF SRSSILVEHL KIHTGRREYE
CNECEKTFKS NSGLIRHRGF HSAE
