ZN214_HUMAN
ID ZN214_HUMAN Reviewed; 606 AA.
AC Q9UL59; B2R8Q1;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Zinc finger protein 214;
DE AltName: Full=BWSCR2-associated zinc finger protein 1;
DE Short=BAZ-1;
GN Name=ZNF214; Synonyms=BAZ1;
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].
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 MRNA].
RC TISSUE=Corpus callosum;
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=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF056617; AAF00004.1; -; mRNA.
DR EMBL; AK313462; BAG36248.1; -; mRNA.
DR EMBL; AC100875; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC136772; AAI36773.1; -; mRNA.
DR CCDS; CCDS31418.1; -.
DR RefSeq; NP_037381.2; NM_013249.2.
DR RefSeq; XP_005253185.1; XM_005253128.3.
DR RefSeq; XP_006718371.1; XM_006718308.3.
DR AlphaFoldDB; Q9UL59; -.
DR SMR; Q9UL59; -.
DR BioGRID; 113544; 14.
DR IntAct; Q9UL59; 12.
DR STRING; 9606.ENSP00000278314; -.
DR iPTMnet; Q9UL59; -.
DR PhosphoSitePlus; Q9UL59; -.
DR BioMuta; ZNF214; -.
DR DMDM; 296453038; -.
DR jPOST; Q9UL59; -.
DR MassIVE; Q9UL59; -.
DR PaxDb; Q9UL59; -.
DR PeptideAtlas; Q9UL59; -.
DR PRIDE; Q9UL59; -.
DR ProteomicsDB; 84957; -.
DR Antibodypedia; 11387; 118 antibodies from 18 providers.
DR DNASU; 7761; -.
DR Ensembl; ENST00000278314.5; ENSP00000278314.4; ENSG00000149050.10.
DR Ensembl; ENST00000536068.5; ENSP00000445373.1; ENSG00000149050.10.
DR GeneID; 7761; -.
DR KEGG; hsa:7761; -.
DR MANE-Select; ENST00000278314.5; ENSP00000278314.4; NM_013249.4; NP_037381.2.
DR UCSC; uc001mfa.3; human.
DR CTD; 7761; -.
DR DisGeNET; 7761; -.
DR GeneCards; ZNF214; -.
DR HGNC; HGNC:13006; ZNF214.
DR HPA; ENSG00000149050; Low tissue specificity.
DR MIM; 605015; gene.
DR neXtProt; NX_Q9UL59; -.
DR OpenTargets; ENSG00000149050; -.
DR PharmGKB; PA37585; -.
DR VEuPathDB; HostDB:ENSG00000149050; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163179; -.
DR HOGENOM; CLU_002678_0_11_1; -.
DR InParanoid; Q9UL59; -.
DR OMA; KFIPWQS; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9UL59; -.
DR TreeFam; TF350845; -.
DR PathwayCommons; Q9UL59; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q9UL59; -.
DR BioGRID-ORCS; 7761; 8 hits in 1089 CRISPR screens.
DR GenomeRNAi; 7761; -.
DR Pharos; Q9UL59; Tbio.
DR PRO; PR:Q9UL59; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9UL59; protein.
DR Bgee; ENSG00000149050; Expressed in buccal mucosa cell and 111 other tissues.
DR Genevisible; Q9UL59; 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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0008270; F:zinc ion binding; NAS:UniProtKB.
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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 12.
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..606
FT /note="Zinc finger protein 214"
FT /id="PRO_0000047458"
FT DOMAIN 3..83
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 275..297
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 303..325
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 330..352
FT /note="C2H2-type 3; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 358..380
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 386..408
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 414..436
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 442..464
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 470..492
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 498..520
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 526..548
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 554..576
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VARIANT 66
FT /note="Y -> C (in dbSNP:rs1156526)"
FT /id="VAR_057403"
FT VARIANT 128
FT /note="L -> H (in dbSNP:rs1156525)"
FT /id="VAR_019975"
FT VARIANT 160
FT /note="H -> R (in dbSNP:rs16921097)"
FT /id="VAR_057404"
FT VARIANT 185
FT /note="I -> R (in dbSNP:rs2239734)"
FT /id="VAR_019976"
FT CONFLICT 252
FT /note="C -> R (in Ref. 1; AAF00004, 2; BAG36248 and 4;
FT AAI36773)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 606 AA; 70992 MW; D0CBA2E0F9E3EAB2 CRC64;
MAVTFEDVTI IFTWEEWKFL DSSQKRLYRE VMWENYTNVM SVENWNESYK SQEEKFRYLE
YENFSYWQGW WNAGAQMYEN QNYGETVQGT DSKDLTQQDR SQCQEWLILS TQVPGYGNYE
LTFESKSLRN LKYKNFMPWQ SLETKTTQDY GREIYMSGSH GFQGGRYRLG ISRKNLSMEK
EQKLIVQHSY IPVEEALPQY VGVICQEDLL RDSMEEKYCG CNKCKGIYYW NSRCVFHKRN
QPGENLCQCS ICKACFSQRS DLYRHPRNHI GKKLYGCDEV DGNFHQSSGV HFHQRVHIGE
VPYSCNACGK SFSQISSLHN HQRVHTEEKF YKIECDKDLS RNSLLHIHQR LHIGEKPFKC
NQCGKSFNRS SVLHVHQRVH TGEKPYKCDE CGKGFSQSSN LRIHQLVHTG EKSYKCEDCG
KGFTQRSNLQ IHQRVHTGEK PYKCDDCGKD FSHSSDLRIH QRVHTGEKPY TCPECGKGFS
KSSKLHTHQR VHTGEKPYKC EECGKGFSQR SHLLIHQRVH TGEKPYKCHD CGKGFSHSSN
LHIHQRVHTG EKPYQCAKCG KGFSHSSALR IHQRVHAGEK PYKCREYYKG FDHNSHLHNN
HRRGNL