ZN253_HUMAN
ID ZN253_HUMAN Reviewed; 499 AA.
AC O75346; A4FVA7; Q0P6G3; Q6P0L2; Q8NCA3; Q8NCF9;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Zinc finger protein 253;
DE AltName: Full=Bone marrow zinc finger 1;
DE Short=BMZF-1;
DE AltName: Full=Zinc finger protein 411;
GN Name=ZNF253; Synonyms=BMZF1, ZNF411;
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).
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 1).
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] (ISOFORMS 1 AND 2).
RC TISSUE=Eye;
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 function as a transcription factor. Seem to have a
CC transcriptional repression activity.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75346-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75346-2; Sequence=VSP_036962;
CC -!- TISSUE SPECIFICITY: Expressed in bone marrow and in monocytic and
CC immature erythroid cell lines.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH14148.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC11257.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF038951; AAC26844.1; -; mRNA.
DR EMBL; AK074757; BAC11185.1; -; mRNA.
DR EMBL; AK074872; BAC11257.1; ALT_INIT; mRNA.
DR EMBL; AC011477; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014148; AAH14148.2; ALT_INIT; mRNA.
DR EMBL; BC065572; AAH65572.1; -; mRNA.
DR EMBL; BC125063; AAI25064.1; -; mRNA.
DR EMBL; BC125064; AAI25065.1; -; mRNA.
DR CCDS; CCDS42532.1; -. [O75346-1]
DR CCDS; CCDS86729.1; -. [O75346-2]
DR RefSeq; NP_001318062.1; NM_001331133.1.
DR RefSeq; NP_001318063.1; NM_001331134.1. [O75346-2]
DR RefSeq; NP_066385.2; NM_021047.2. [O75346-1]
DR AlphaFoldDB; O75346; -.
DR SMR; O75346; -.
DR BioGRID; 121110; 5.
DR IntAct; O75346; 3.
DR MINT; O75346; -.
DR STRING; 9606.ENSP00000468720; -.
DR iPTMnet; O75346; -.
DR PhosphoSitePlus; O75346; -.
DR BioMuta; ZNF253; -.
DR EPD; O75346; -.
DR jPOST; O75346; -.
DR MassIVE; O75346; -.
DR MaxQB; O75346; -.
DR PaxDb; O75346; -.
DR PeptideAtlas; O75346; -.
DR PRIDE; O75346; -.
DR ProteomicsDB; 49914; -. [O75346-1]
DR ProteomicsDB; 49915; -. [O75346-2]
DR Antibodypedia; 56721; 46 antibodies from 18 providers.
DR DNASU; 56242; -.
DR Ensembl; ENST00000355650.4; ENSP00000347868.4; ENSG00000256771.5. [O75346-2]
DR Ensembl; ENST00000589717.2; ENSP00000468720.1; ENSG00000256771.5. [O75346-1]
DR GeneID; 56242; -.
DR KEGG; hsa:56242; -.
DR MANE-Select; ENST00000589717.2; ENSP00000468720.1; NM_021047.3; NP_066385.2.
DR UCSC; uc002noj.4; human. [O75346-1]
DR CTD; 56242; -.
DR DisGeNET; 56242; -.
DR GeneCards; ZNF253; -.
DR HGNC; HGNC:13497; ZNF253.
DR HPA; ENSG00000256771; Low tissue specificity.
DR MIM; 606954; gene.
DR neXtProt; NX_O75346; -.
DR OpenTargets; ENSG00000256771; -.
DR PharmGKB; PA37785; -.
DR VEuPathDB; HostDB:ENSG00000256771; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT01050000244908; -.
DR HOGENOM; CLU_002678_44_0_1; -.
DR InParanoid; O75346; -.
DR OMA; THKIHHT; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; O75346; -.
DR PathwayCommons; O75346; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; O75346; -.
DR BioGRID-ORCS; 56242; 268 hits in 1030 CRISPR screens.
DR GenomeRNAi; 56242; -.
DR Pharos; O75346; Tdark.
DR PRO; PR:O75346; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O75346; protein.
DR Bgee; ENSG00000256771; Expressed in buccal mucosa cell and 149 other tissues.
DR ExpressionAtlas; O75346; baseline and differential.
DR Genevisible; O75346; 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:0045892; P:negative regulation of transcription, DNA-templated; NAS:UniProtKB.
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; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Repressor; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..499
FT /note="Zinc finger protein 253"
FT /id="PRO_0000047486"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 172..194
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 200..222
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 228..250
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 256..278
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 284..306
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 312..334
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 340..362
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 368..390
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 396..418
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 424..446
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 452..474
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..76
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_036962"
FT CONFLICT 220..443
FT /note="Missing (in Ref. 1; AAC26844)"
FT /evidence="ECO:0000305"
FT CONFLICT 286..313
FT /note="Missing (in Ref. 2; BAC11185)"
FT /evidence="ECO:0000305"
FT CONFLICT 371
FT /note="R -> I (in Ref. 2; BAC11185)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 499 AA; 57602 MW; 783F3352A58AC767 CRC64;
MGPLQFRDVA IEFSLEEWHC LDTAQRNLYR DVMLENYRNL VFLGIVVSKP DLVTCLEQGK
KPLTMERHEM IAKPPVMSSH FAQDLWPENI QNSFQIGMLR RYEECRHDNL QLKKGCKSVG
EHKVHKGGYN GLNQCLTTTQ KEIFQCDKYG KVFHKFSNSN TYKTRHTGIN LFKCIICGKA
FKRSSTLTTH KKIHTGEKPY RCEECGKAFN QSANLTTHKR IHTGEKPYRC EECGKAFKQS
SNLTTHKKIH TGEKPYKCEE CGKAFNRSTD LTTHKIVHTG EKPYKCEECG KAFKHPSHVT
THKKIHTRGK PYNCEECGKS FKHCSNLTIH KRIHTGEKPY KCEECGKAFH LSSHLTTHKI
LHTGEKPYRC RECGKAFNHS TTLFSHEKIH TGEKPYKCDE CGKTFTWPSI LSKHKRTHTG
EKPYKCEECG KSFTASSTLT THKRIHTGEK PYKCEECGKA FNWSSDLNKH KKIHIERKPY
IVKNVTDLLN VPPLLISIR
