ZN254_HUMAN
ID ZN254_HUMAN Reviewed; 659 AA.
AC O75437; A4QPC0; Q86XL7;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 193.
DE RecName: Full=Zinc finger protein 254;
DE AltName: Full=Bone marrow zinc finger 5;
DE Short=BMZF-5;
DE AltName: Full=Hematopoietic cell-derived zinc finger protein 1;
DE Short=HD-ZNF1;
DE AltName: Full=Zinc finger protein 539;
DE AltName: Full=Zinc finger protein 91-like;
GN Name=ZNF254; Synonyms=BMZF5, ZNF539, ZNF91L;
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 2).
RC TISSUE=Umbilical cord blood;
RX PubMed=9653160; DOI=10.1073/pnas.95.14.8175;
RA Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H.,
RA He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H.,
RA Wang Y.-X., Chen S.-J., Chen Z.;
RT "Identification of genes expressed in human CD34(+) hematopoietic
RT stem/progenitor cells by expressed sequence tags and efficient full-length
RT cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLY-93 AND
RP ASN-537.
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).
RN [4]
RP IDENTIFICATION.
RX PubMed=10585455; DOI=10.1074/jbc.274.50.35741;
RA Han Z.-G., Zhang Q.-H., Ye M., Kan L.-X., Gu B.-W., He K.-L., Shi S.-L.,
RA Zhou J., Fu G., Mao M., Chen S.-J., Yu L., Chen Z.;
RT "Molecular cloning of six novel Kruppel-like zinc finger genes from
RT hematopoietic cells and identification of a novel transregulatory domain
RT KRNB.";
RL J. Biol. Chem. 274:35741-35748(1999).
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=O75437-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75437-2; Sequence=VSP_022010;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF054180; AAC39913.1; -; mRNA.
DR EMBL; CH471106; EAW84960.1; -; Genomic_DNA.
DR EMBL; BC043147; AAH43147.2; -; mRNA.
DR EMBL; BC139749; AAI39750.1; -; mRNA.
DR CCDS; CCDS32983.1; -. [O75437-1]
DR RefSeq; NP_975011.3; NM_203282.3. [O75437-1]
DR AlphaFoldDB; O75437; -.
DR SMR; O75437; -.
DR BioGRID; 114910; 9.
DR IntAct; O75437; 7.
DR MINT; O75437; -.
DR STRING; 9606.ENSP00000349494; -.
DR iPTMnet; O75437; -.
DR PhosphoSitePlus; O75437; -.
DR BioMuta; ZNF254; -.
DR jPOST; O75437; -.
DR MassIVE; O75437; -.
DR MaxQB; O75437; -.
DR PaxDb; O75437; -.
DR PeptideAtlas; O75437; -.
DR PRIDE; O75437; -.
DR ProteomicsDB; 50003; -. [O75437-1]
DR ProteomicsDB; 50004; -. [O75437-2]
DR Antibodypedia; 28793; 39 antibodies from 11 providers.
DR DNASU; 9534; -.
DR Ensembl; ENST00000357002.5; ENSP00000349494.3; ENSG00000213096.11. [O75437-1]
DR GeneID; 9534; -.
DR KEGG; hsa:9534; -.
DR MANE-Select; ENST00000357002.5; ENSP00000349494.3; NM_203282.4; NP_975011.3.
DR UCSC; uc002nru.5; human. [O75437-1]
DR CTD; 9534; -.
DR DisGeNET; 9534; -.
DR GeneCards; ZNF254; -.
DR HGNC; HGNC:13047; ZNF254.
DR HPA; ENSG00000213096; Low tissue specificity.
DR MIM; 604768; gene.
DR neXtProt; NX_O75437; -.
DR OpenTargets; ENSG00000213096; -.
DR PharmGKB; PA37625; -.
DR VEuPathDB; HostDB:ENSG00000213096; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000153236; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; O75437; -.
DR OMA; DRITHWR; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; O75437; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; O75437; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; O75437; -.
DR BioGRID-ORCS; 9534; 275 hits in 1034 CRISPR screens.
DR ChiTaRS; ZNF254; human.
DR GenomeRNAi; 9534; -.
DR Pharos; O75437; Tdark.
DR PRO; PR:O75437; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O75437; protein.
DR Bgee; ENSG00000213096; Expressed in buccal mucosa cell and 161 other tissues.
DR ExpressionAtlas; O75437; baseline and differential.
DR Genevisible; O75437; 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:0000122; P:negative regulation of transcription by RNA polymerase II; TAS:ProtInc.
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; 14.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 15.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 13.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 15.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..659
FT /note="Zinc finger protein 254"
FT /id="PRO_0000047487"
FT DOMAIN 13..84
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 210..232
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 238..260
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 266..288
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 294..316
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 322..344
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 350..372
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 378..400
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 406..428
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 434..456
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 462..484
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 490..512
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 518..540
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 546..568
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 574..596
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 602..624
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 280..587
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9653160"
FT /id="VSP_022010"
FT VARIANT 93
FT /note="D -> G (in dbSNP:rs17854260)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047461"
FT VARIANT 386
FT /note="A -> T (in dbSNP:rs403356)"
FT /id="VAR_047462"
FT VARIANT 457
FT /note="T -> A (in dbSNP:rs2925930)"
FT /id="VAR_047463"
FT VARIANT 537
FT /note="K -> N (in dbSNP:rs12611425)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_059906"
FT VARIANT 594
FT /note="V -> I (in dbSNP:rs2446056)"
FT /id="VAR_047464"
FT CONFLICT 273
FT /note="E -> K (in Ref. 1; AAC39913)"
FT /evidence="ECO:0000305"
FT CONFLICT 653..659
FT /note="WREILQV -> TGEKSYKYE (in Ref. 1; AAC39913)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 659 AA; 77160 MW; 82E89E6715D96394 CRC64;
MPGPPRSLEM GLLTFRDVAI EFSLEEWQHL DIAQQNLYRN VMLENYRNLA FLGIAVSKPD
LITCLEQGKE PWNMKRHEMV DEPPGMCPHF AQDLWPEQGM EDSFQKAILR RYGKYGHENL
QLRKGCKSVD EYKVNKEGYN GLNQCFTTAQ SKVFQCDKYL KVFYKFLNSN RPKIRHTEKK
SFKCKKRVKL FCMLSHKTQH KSIYHREKSY KCKECGKTFN WSSTLTNHRK IYTEEKPYKC
EEYNKSPKQL STLTTHEIIH AGEKLYKCEE CGEAFNRSSN LTTHKIIHTG EKPYKCEECG
KAFIWSSTLT EHKKIHTRKK PYKCEECGKA FIWSSTLTRH KRMHTGEKPY KCEECGKAFS
QSSTLTTHKI IHTGEKRYKC LECGKAFKQL STLTTHKIIH VGEKLYKCEE CGKGFNRSSN
LTTHKIIHTG EKPYKCEECG KAFIWSSTLT KHKRIHTREK PYKCEECGKA FIWSSTLTRH
KRMHTGEKPY KCEECGKSFS QSSTLTTHKI IHTGEKPYKC EECGKAFNWS STLTKHKIIH
TEEKPYKCEK CGKAFKQSSI LTNHKRIHTG EKPYKCEECG KSFNRSSTFT KHKVIHTGVK
PYKCEECGKA FFWSSTLTKH KRIHTGEQPY KWEKFGKAFN RSSHLTTDKI THWREILQV
