ZN530_HUMAN
ID ZN530_HUMAN Reviewed; 599 AA.
AC Q6P9A1; O43340; Q9P220;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Zinc finger protein 530;
GN Name=ZNF530; Synonyms=KIAA1508;
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-110 AND PRO-124.
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 54-599, AND VARIANTS ALA-64 AND
RP GLN-110.
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
CC -!- FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC24609.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAA96032.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AC003682; AAC24609.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC060865; AAH60865.1; -; mRNA.
DR EMBL; AB040941; BAA96032.1; ALT_SEQ; mRNA.
DR CCDS; CCDS12955.1; -.
DR RefSeq; NP_001308910.1; NM_001321981.1.
DR RefSeq; NP_065931.3; NM_020880.4.
DR AlphaFoldDB; Q6P9A1; -.
DR SMR; Q6P9A1; -.
DR BioGRID; 131520; 2.
DR IntAct; Q6P9A1; 1.
DR STRING; 9606.ENSP00000332861; -.
DR iPTMnet; Q6P9A1; -.
DR PhosphoSitePlus; Q6P9A1; -.
DR BioMuta; ZNF530; -.
DR DMDM; 158706493; -.
DR EPD; Q6P9A1; -.
DR MassIVE; Q6P9A1; -.
DR MaxQB; Q6P9A1; -.
DR PaxDb; Q6P9A1; -.
DR PeptideAtlas; Q6P9A1; -.
DR PRIDE; Q6P9A1; -.
DR ProteomicsDB; 67030; -.
DR Antibodypedia; 33274; 91 antibodies from 18 providers.
DR DNASU; 348327; -.
DR Ensembl; ENST00000332854.11; ENSP00000332861.5; ENSG00000183647.11.
DR Ensembl; ENST00000600619.1; ENSP00000472564.1; ENSG00000183647.11.
DR GeneID; 348327; -.
DR KEGG; hsa:348327; -.
DR UCSC; uc002qpk.3; human.
DR CTD; 348327; -.
DR DisGeNET; 348327; -.
DR GeneCards; ZNF530; -.
DR HGNC; HGNC:29297; ZNF530.
DR HPA; ENSG00000183647; Low tissue specificity.
DR neXtProt; NX_Q6P9A1; -.
DR OpenTargets; ENSG00000183647; -.
DR PharmGKB; PA134892909; -.
DR VEuPathDB; HostDB:ENSG00000183647; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000164722; -.
DR HOGENOM; CLU_002678_57_1_1; -.
DR InParanoid; Q6P9A1; -.
DR OMA; GASDFWM; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q6P9A1; -.
DR TreeFam; TF339848; -.
DR PathwayCommons; Q6P9A1; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q6P9A1; -.
DR BioGRID-ORCS; 348327; 5 hits in 1100 CRISPR screens.
DR GenomeRNAi; 348327; -.
DR Pharos; Q6P9A1; Tdark.
DR PRO; PR:Q6P9A1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6P9A1; protein.
DR Bgee; ENSG00000183647; Expressed in secondary oocyte and 101 other tissues.
DR ExpressionAtlas; Q6P9A1; baseline and differential.
DR Genevisible; Q6P9A1; 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; 11.
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; 13.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 2: Evidence at transcript level;
KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..599
FT /note="Zinc finger protein 530"
FT /id="PRO_0000304997"
FT DOMAIN 14..94
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 239..261
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 267..289
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 295..317
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 323..345
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 351..373
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 379..401
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 407..429
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 435..457
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 463..485
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 491..513
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 519..541
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 547..569
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 575..597
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 68..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 69..83
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 64
FT /note="T -> A (in dbSNP:rs9677004)"
FT /evidence="ECO:0000269|PubMed:10819331"
FT /id="VAR_035144"
FT VARIANT 110
FT /note="H -> Q (in dbSNP:rs2360543)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_035145"
FT VARIANT 124
FT /note="S -> P (in dbSNP:rs17855076)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035146"
FT VARIANT 169
FT /note="T -> M (in dbSNP:rs11883343)"
FT /id="VAR_035147"
FT VARIANT 262
FT /note="G -> S (in dbSNP:rs9676259)"
FT /id="VAR_035148"
SQ SEQUENCE 599 AA; 68837 MW; 4A1E04810B74CEF2 CRC64;
MAAALRAPTQ QVFVAFEDVA IYFSQEEWEL LDEMQRLLYR DVMLENFAVM ASLGCWCGAV
DEGTPSAESV SVEELSQGRT PKADTSTDKS HPCEICTPVL RDILQMIELH ASPCGQKLYL
GGASRDFWMS SNLHQLQKLD NGEKLFKVDG DQASFMMNCR FHVSGKPFTF GEVGRDFSAT
SGLLQHQVTP TIERPHSRIR HLRVPTGRKP LKYTESRKSF REKSVFIQHQ RADSGERPYK
CSECGKSFSQ SSGFLRHRKA HGRTRTHECS ECGKSFSRKT HLTQHQRVHT GERPYDCSEC
GKSFRQVSVL IQHQRVHTGE RPYECSECGK SFSHSTNLYR HRSAHTSTRP YECSECGKSF
SHSTNLFRHW RVHTGVRPYE CSECGKAFSC NIYLIHHQRF HTGERPYVCS ECGKSFGQKS
VLIQHQRVHT GERPYECSEC GKVFSQSSGL FRHRRAHTKT KPYECSECEK SFSCKTDLIR
HQTVHTGERP YECSVCGKSF IRKTHLIRHQ TVHTNERPYE CDECGKSYSQ SSALLQHRRV
HTGERPYECR ECGKSFTRKN HLIQHKTVHT GERPYECSEC GKSFSQSSGL LRHRRVHVQ
