ZN215_HUMAN
ID ZN215_HUMAN Reviewed; 517 AA.
AC Q9UL58; Q96C84;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Zinc finger protein 215;
DE AltName: Full=BWSCR2-associated zinc finger protein 2;
DE Short=BAZ-2;
DE AltName: Full=Zinc finger protein with KRAB and SCAN domains 11;
GN Name=ZNF215; Synonyms=BAZ2, ZKSCAN11;
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), AND VARIANT LEU-323.
RX PubMed=10762538; DOI=10.1086/302892;
RA Alders M., Ryan A., Hodges M., Bliek J., Feinberg A.P., Privitera O.,
RA Westerveld A., Little P.F.R., Mannens M.;
RT "Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-
RT Wiedemann syndrome.";
RL Am. J. Hum. Genet. 66:1473-1484(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UL58-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UL58-2; Sequence=VSP_054156, VSP_054157;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF056618; AAF00005.1; -; mRNA.
DR EMBL; AC090160; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100875; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014538; AAH14538.1; -; mRNA.
DR CCDS; CCDS7775.1; -. [Q9UL58-1]
DR CCDS; CCDS86177.1; -. [Q9UL58-2]
DR RefSeq; NP_037382.2; NM_013250.2. [Q9UL58-1]
DR RefSeq; XP_006718374.1; XM_006718311.2.
DR AlphaFoldDB; Q9UL58; -.
DR SMR; Q9UL58; -.
DR BioGRID; 113545; 19.
DR IntAct; Q9UL58; 6.
DR STRING; 9606.ENSP00000278319; -.
DR iPTMnet; Q9UL58; -.
DR PhosphoSitePlus; Q9UL58; -.
DR BioMuta; ZNF215; -.
DR DMDM; 296453039; -.
DR jPOST; Q9UL58; -.
DR MassIVE; Q9UL58; -.
DR PaxDb; Q9UL58; -.
DR PeptideAtlas; Q9UL58; -.
DR PRIDE; Q9UL58; -.
DR Antibodypedia; 23972; 127 antibodies from 22 providers.
DR DNASU; 7762; -.
DR Ensembl; ENST00000278319.10; ENSP00000278319.5; ENSG00000149054.16. [Q9UL58-1]
DR Ensembl; ENST00000414517.6; ENSP00000393202.2; ENSG00000149054.16. [Q9UL58-1]
DR Ensembl; ENST00000529903.1; ENSP00000432306.1; ENSG00000149054.16. [Q9UL58-2]
DR Ensembl; ENST00000610573.4; ENSP00000484674.1; ENSG00000149054.16. [Q9UL58-2]
DR GeneID; 7762; -.
DR KEGG; hsa:7762; -.
DR MANE-Select; ENST00000278319.10; ENSP00000278319.5; NM_013250.4; NP_037382.2.
DR UCSC; uc001mey.4; human. [Q9UL58-1]
DR CTD; 7762; -.
DR DisGeNET; 7762; -.
DR GeneCards; ZNF215; -.
DR HGNC; HGNC:13007; ZNF215.
DR HPA; ENSG00000149054; Tissue enhanced (lymphoid).
DR MIM; 605016; gene.
DR neXtProt; NX_Q9UL58; -.
DR OpenTargets; ENSG00000149054; -.
DR PharmGKB; PA37586; -.
DR VEuPathDB; HostDB:ENSG00000149054; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163217; -.
DR HOGENOM; CLU_002678_49_8_1; -.
DR InParanoid; Q9UL58; -.
DR OMA; SEEEWGQ; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9UL58; -.
DR TreeFam; TF350807; -.
DR PathwayCommons; Q9UL58; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q9UL58; -.
DR BioGRID-ORCS; 7762; 6 hits in 1101 CRISPR screens.
DR GenomeRNAi; 7762; -.
DR Pharos; Q9UL58; Tdark.
DR PRO; PR:Q9UL58; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9UL58; protein.
DR Bgee; ENSG00000149054; Expressed in secondary oocyte and 109 other tissues.
DR ExpressionAtlas; Q9UL58; baseline and differential.
DR Genevisible; Q9UL58; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
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; 4.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00431; SCAN; 1.
DR SMART; SM00355; ZnF_C2H2; 4.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 3.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS50804; SCAN_BOX; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 4.
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..517
FT /note="Zinc finger protein 215"
FT /id="PRO_0000047459"
FT DOMAIN 48..126
FT /note="SCAN box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00187"
FT DOMAIN 164..237
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 379..401
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 407..429
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 462..484
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 490..512
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 269..304
FT /note="GENWLYRNQKKWDINLPQEAFIPETIYTEEEDFECS -> DGVSLLLPRLEY
FT NDAVSAHCNLHLWVQVILLPQPPE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054156"
FT VAR_SEQ 305..517
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054157"
FT VARIANT 36
FT /note="N -> S (in dbSNP:rs11041107)"
FT /id="VAR_057405"
FT VARIANT 38
FT /note="V -> I (in dbSNP:rs35111903)"
FT /id="VAR_057406"
FT VARIANT 119
FT /note="M -> V (in dbSNP:rs11041108)"
FT /id="VAR_024200"
FT VARIANT 263
FT /note="S -> F (in dbSNP:rs11041115)"
FT /id="VAR_057407"
FT VARIANT 323
FT /note="V -> L (in dbSNP:rs2239730)"
FT /evidence="ECO:0000269|PubMed:10762538"
FT /id="VAR_060423"
FT VARIANT 376
FT /note="M -> V (in dbSNP:rs2239729)"
FT /id="VAR_021890"
SQ SEQUENCE 517 AA; 60034 MW; B14A6791E763C41E CRC64;
MQPLSKLMAI SKPRNLSLRE QREVLRADMS WQQETNPVVE THDSEASRQK FRHFQYLKVS
GPHEALSQLW ELCLQWLRPE IHTKKQIIEL LVLEQFLAIL PEEVRTWVNL QHPNNSKDMV
TLIEDVIEML EDEDMPCKDS ALQMGSIKEK MKAGSRTGKP QEPVTFKDVV VEFSKEEWGQ
LDSAVKNLYR NVMLENFRNL NSLRKAHLLS KPFESLKLES KKKRWIMEKE IPRKTIFDMK
SISGEESSHG VIMTRLTESG HPSSDAWKGE NWLYRNQKKW DINLPQEAFI PETIYTEEED
FECSENKKSF DINSVSSICA IQVGIPSRKG SPKCDKFKTY FKFNLDSVGK QHSEYEYGND
LSLSTDIRHQ KSHTTMNSYE CYQCGKAFCR SSSLIRHQII HTGEKPYKCS ECGRFFNRRT
NLTKHQKLHA EAKACTSNKC GKAFSKSEDS NNPTLHFGNN FYQCVNCGKS FNRSSSLIRH
QMIHTGEKPF KCKECSKAFN RSSNLVKHQK LHTRDKS
