ZN257_HUMAN
ID ZN257_HUMAN Reviewed; 563 AA.
AC Q9Y2Q1; B3KPS4; E9PG34; Q8NE34;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Zinc finger protein 257;
DE AltName: Full=Bone marrow zinc finger 4;
DE Short=BMZF-4;
GN Name=ZNF257; Synonyms=BMZF4;
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 2).
RC TISSUE=Bone marrow;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
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=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9Y2Q1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2Q1-2; Sequence=VSP_040860;
CC Name=3;
CC IsoId=Q9Y2Q1-3; Sequence=VSP_040858;
CC Name=4;
CC IsoId=Q9Y2Q1-4; Sequence=VSP_040859;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF070651; AAD20957.1; -; mRNA.
DR EMBL; AK056694; BAG51786.1; -; mRNA.
DR EMBL; AC003973; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011482; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036446; AAH36446.1; -; mRNA.
DR CCDS; CCDS46030.1; -. [Q9Y2Q1-1]
DR RefSeq; NP_001303925.1; NM_001316996.1. [Q9Y2Q1-3]
DR RefSeq; NP_001303926.1; NM_001316997.1.
DR RefSeq; NP_001303927.1; NM_001316998.1.
DR RefSeq; NP_258429.2; NM_033468.3. [Q9Y2Q1-1]
DR AlphaFoldDB; Q9Y2Q1; -.
DR SMR; Q9Y2Q1; -.
DR BioGRID; 125264; 2.
DR IntAct; Q9Y2Q1; 2.
DR MINT; Q9Y2Q1; -.
DR STRING; 9606.ENSP00000470209; -.
DR iPTMnet; Q9Y2Q1; -.
DR PhosphoSitePlus; Q9Y2Q1; -.
DR BioMuta; ZNF257; -.
DR DMDM; 327478547; -.
DR EPD; Q9Y2Q1; -.
DR jPOST; Q9Y2Q1; -.
DR MassIVE; Q9Y2Q1; -.
DR MaxQB; Q9Y2Q1; -.
DR PaxDb; Q9Y2Q1; -.
DR PeptideAtlas; Q9Y2Q1; -.
DR PRIDE; Q9Y2Q1; -.
DR Antibodypedia; 28717; 46 antibodies from 13 providers.
DR DNASU; 113835; -.
DR Ensembl; ENST00000594947.6; ENSP00000470209.1; ENSG00000197134.13. [Q9Y2Q1-1]
DR GeneID; 113835; -.
DR KEGG; hsa:113835; -.
DR MANE-Select; ENST00000594947.6; ENSP00000470209.1; NM_033468.4; NP_258429.2.
DR UCSC; uc010ecx.4; human. [Q9Y2Q1-1]
DR CTD; 113835; -.
DR DisGeNET; 113835; -.
DR GeneCards; ZNF257; -.
DR HGNC; HGNC:13498; ZNF257.
DR HPA; ENSG00000197134; Low tissue specificity.
DR MIM; 606957; gene.
DR neXtProt; NX_Q9Y2Q1; -.
DR OpenTargets; ENSG00000197134; -.
DR PharmGKB; PA37786; -.
DR VEuPathDB; HostDB:ENSG00000197134; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT01050000244908; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q9Y2Q1; -.
DR OMA; GKPFNRF; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9Y2Q1; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q9Y2Q1; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q9Y2Q1; -.
DR BioGRID-ORCS; 113835; 7 hits in 1056 CRISPR screens.
DR GenomeRNAi; 113835; -.
DR Pharos; Q9Y2Q1; Tdark.
DR PRO; PR:Q9Y2Q1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9Y2Q1; protein.
DR Bgee; ENSG00000197134; Expressed in oocyte and 97 other tissues.
DR ExpressionAtlas; Q9Y2Q1; baseline and differential.
DR Genevisible; Q9Y2Q1; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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:0006355; P:regulation of transcription, DNA-templated; 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; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
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..563
FT /note="Zinc finger protein 257"
FT /id="PRO_0000047490"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 173..195
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 201..223
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..251
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..279
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 285..310
FT /note="C2H2-type 5; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 316..338
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 344..366
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 372..394
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 400..425
FT /note="C2H2-type 9; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 431..453
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 459..481
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 487..509
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 515..537
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..32
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040858"
FT VAR_SEQ 51..83
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040859"
FT VAR_SEQ 177..204
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10585455"
FT /id="VSP_040860"
FT CONFLICT 355
FT /note="R -> G (in Ref. 4; AAH36446)"
FT /evidence="ECO:0000305"
FT CONFLICT 450
FT /note="K -> E (in Ref. 1; AAD20957)"
FT /evidence="ECO:0000305"
FT CONFLICT 501..502
FT /note="HL -> QP (in Ref. 1; AAD20957)"
FT /evidence="ECO:0000305"
FT CONFLICT 506
FT /note="K -> R (in Ref. 1; AAD20957)"
FT /evidence="ECO:0000305"
FT CONFLICT 523
FT /note="P -> A (in Ref. 1; AAD20957)"
FT /evidence="ECO:0000305"
FT CONFLICT 526
FT /note="R -> T (in Ref. 1; AAD20957)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 563 AA; 65779 MW; 19440275324E119B CRC64;
MGPLTIRDVT VEFSLEEWHC LDTAQQNLYR DVMLENYRNL VFLGIAVSKP DLITCLEQGK
EPCNMKRHEM VAKPPVMCSH IAEDLCPERD IKYFFQKVIL RRYDKCEHEN LQLRKGCKSV
DECKVCKGGY NGLNQCLITT QSKMYQCDKY VKVFYKFSNS DRHKIRHTEK KTCKCKECGK
SFCMLSQLTR HKRIHIRENS HKCEECGKAF NQSSALTRHK MTHTGEKPYK CEECGKAFNR
SSHLTQHKVI HTREKPYKCE ECGKAFNRSS HITQHKRIHN REKPFKYDEC CKAFKWSSAL
TTLTQHKRIH TGEKPYKCEE CGKAFNQSSA LTRHKMIHTG EKPFQCEECG KAFNRSSHLT
QHKIIHTKEK PYKCEECGKA FNRSSHLTKH KRIHTREKAY KCDEYCKAFN WSSALTTLTQ
HKIIHTGEKP YKCEECGKAF NRSSYLIRHK IIHTGEKPYK CEECGKAFNQ SSHLTQHKII
HTGEKPYKCE ECGKAFNRSS HLSQHKIIHT GEKPYKCEEC GKPFNRFSYL TVHKRIHAGE
NPNKYEECGK ACNHSSNLTK HNS