ZN230_HUMAN
ID ZN230_HUMAN Reviewed; 474 AA.
AC Q9UIE0; O15322; Q504X7; Q86W84; Q9P1U6;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2007, sequence version 3.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Zinc finger protein 230;
DE AltName: Full=Zinc finger protein FDZF2;
GN Name=ZNF230; Synonyms=FDZF2;
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].
RC TISSUE=Liver;
RA Wu G., Yu L.;
RT "Cloning of a novel KRAB-containing zinc finger gene, FDZF2.";
RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q9UIE0; Q86Z20: CCDC125; NbExp=3; IntAct=EBI-1105361, EBI-11977221;
CC Q9UIE0; Q96JN2-2: CCDC136; NbExp=3; IntAct=EBI-1105361, EBI-10171416;
CC Q9UIE0; O95273: CCNDBP1; NbExp=3; IntAct=EBI-1105361, EBI-748961;
CC Q9UIE0; A1L4K1: FSD2; NbExp=3; IntAct=EBI-1105361, EBI-5661036;
CC Q9UIE0; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-1105361, EBI-5916454;
CC Q9UIE0; Q6A162: KRT40; NbExp=3; IntAct=EBI-1105361, EBI-10171697;
CC Q9UIE0; Q99750: MDFI; NbExp=3; IntAct=EBI-1105361, EBI-724076;
CC Q9UIE0; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-1105361, EBI-11522433;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; U95044; AAB62180.1; -; mRNA.
DR EMBL; AC018725; AAF18685.1; -; Genomic_DNA.
DR EMBL; AC067968; AAF66074.1; -; Genomic_DNA.
DR EMBL; BC050340; AAH50340.2; -; mRNA.
DR EMBL; BC094708; AAH94708.1; -; mRNA.
DR CCDS; CCDS33044.1; -.
DR RefSeq; NP_006291.2; NM_006300.3.
DR AlphaFoldDB; Q9UIE0; -.
DR SMR; Q9UIE0; -.
DR BioGRID; 113556; 12.
DR IntAct; Q9UIE0; 10.
DR iPTMnet; Q9UIE0; -.
DR PhosphoSitePlus; Q9UIE0; -.
DR BioMuta; ZNF230; -.
DR DMDM; 125987869; -.
DR jPOST; Q9UIE0; -.
DR MassIVE; Q9UIE0; -.
DR PaxDb; Q9UIE0; -.
DR PeptideAtlas; Q9UIE0; -.
DR PRIDE; Q9UIE0; -.
DR Antibodypedia; 17681; 139 antibodies from 19 providers.
DR DNASU; 7773; -.
DR Ensembl; ENST00000429154.7; ENSP00000409318.1; ENSG00000159882.13.
DR GeneID; 7773; -.
DR KEGG; hsa:7773; -.
DR MANE-Select; ENST00000429154.7; ENSP00000409318.1; NM_006300.4; NP_006291.2.
DR UCSC; uc002oyb.2; human.
DR CTD; 7773; -.
DR DisGeNET; 7773; -.
DR GeneCards; ZNF230; -.
DR HGNC; HGNC:13024; ZNF230.
DR HPA; ENSG00000159882; Low tissue specificity.
DR neXtProt; NX_Q9UIE0; -.
DR OpenTargets; ENSG00000159882; -.
DR PharmGKB; PA37603; -.
DR VEuPathDB; HostDB:ENSG00000159882; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163825; -.
DR HOGENOM; CLU_002678_44_17_1; -.
DR InParanoid; Q9UIE0; -.
DR OMA; VHRSFCK; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9UIE0; -.
DR TreeFam; TF341885; -.
DR PathwayCommons; Q9UIE0; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q9UIE0; -.
DR BioGRID-ORCS; 7773; 11 hits in 1090 CRISPR screens.
DR ChiTaRS; ZNF230; human.
DR GenomeRNAi; 7773; -.
DR Pharos; Q9UIE0; Tbio.
DR PRO; PR:Q9UIE0; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9UIE0; protein.
DR Bgee; ENSG00000159882; Expressed in blood and 118 other tissues.
DR ExpressionAtlas; Q9UIE0; baseline and differential.
DR Genevisible; Q9UIE0; 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; 6.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 7.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 10.
PE 1: Evidence at protein level;
KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..474
FT /note="Zinc finger protein 230"
FT /id="PRO_0000047471"
FT DOMAIN 8..76
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 168..190
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 196..218
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 224..246
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 252..274
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 280..302
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 308..330
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 336..358
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 364..386
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 392..414
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 420..442
FT /note="C2H2-type 10; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 80..167
FT /note="KRNB"
FT VARIANT 310
FT /note="S -> C (in dbSNP:rs1060877)"
FT /id="VAR_030534"
FT VARIANT 434
FT /note="F -> Y (in dbSNP:rs6413542)"
FT /id="VAR_030535"
FT VARIANT 441
FT /note="D -> E (in dbSNP:rs12753)"
FT /id="VAR_014827"
FT CONFLICT 26
FT /note="D -> H (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 92
FT /note="C -> V (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="R -> C (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="R -> H (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 220
FT /note="G -> R (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 265..266
FT /note="FQ -> LK (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 280
FT /note="F -> S (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 299
FT /note="C -> Y (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 308..310
FT /note="YKS -> SKC (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
FT CONFLICT 383..385
FT /note="QRV -> PEG (in Ref. 1; AAB62180)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 474 AA; 54542 MW; 40DBFE785051451D CRC64;
MTTFKEAVTF KDVAVFFTEE ELGLLDPAQR KLYQDVMLEN FTNLLSVGHQ PFHPFHFLRE
EKFWMMETAT QREGNSGGKT IAEAGPHEDC PCQQIWEQTA SDLTQSQDSI INNSHFFEQG
DVPSQVEAGL SIIHTGQKPS QNGKCKQSFS DVAIFDPPQQ FHSGEKSHTC NECGKSFCYI
SALRIHQRVH LREKLSKCDM RGKEFSQSSC LQTRERVHTG EKPFKCEQCG KGFRCRAILQ
VHCKLHTGEK PYICEKCGRA FIHDFQLQKH QIIHTGEKPF KCEICGKSFC LRSSLNRHCM
VHTAEKLYKS EECGKGFTDS LDLHKHQIIH TGQKPYNCKE CGKSFRWSSY LLIHQRIHSG
EKPYRCEECG KGYISKSGLN LHQRVHTGER PYNCKECGKS FSRASSILNH KKLHCRKKPF
KCEDCGKRLV HRSFCKDQQG DHNGENSSKC EDCGKRYKRR LNLDIILSLF LNDM
