ZN251_HUMAN
ID ZN251_HUMAN Reviewed; 671 AA.
AC Q9BRH9; Q2M219;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 4.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Zinc finger protein 251;
GN Name=ZNF251;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 379-671.
RC TISSUE=Brain, and Ovary;
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 SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-114; LYS-157; LYS-162 AND
RP LYS-403, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q9BRH9; Q5TD97: FHL5; NbExp=3; IntAct=EBI-7254491, EBI-750641;
CC Q9BRH9; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-7254491, EBI-10172052;
CC Q9BRH9; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-7254491, EBI-725997;
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; AK000435; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF186192; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006258; AAH06258.2; -; mRNA.
DR EMBL; BC112137; AAI12138.1; -; mRNA.
DR CCDS; CCDS47944.1; -.
DR RefSeq; NP_612376.1; NM_138367.1.
DR AlphaFoldDB; Q9BRH9; -.
DR SMR; Q9BRH9; -.
DR BioGRID; 124784; 15.
DR IntAct; Q9BRH9; 13.
DR MINT; Q9BRH9; -.
DR STRING; 9606.ENSP00000292562; -.
DR iPTMnet; Q9BRH9; -.
DR PhosphoSitePlus; Q9BRH9; -.
DR BioMuta; ZNF251; -.
DR DMDM; 317373550; -.
DR EPD; Q9BRH9; -.
DR jPOST; Q9BRH9; -.
DR MassIVE; Q9BRH9; -.
DR MaxQB; Q9BRH9; -.
DR PaxDb; Q9BRH9; -.
DR PeptideAtlas; Q9BRH9; -.
DR PRIDE; Q9BRH9; -.
DR ProteomicsDB; 78765; -.
DR Antibodypedia; 7908; 109 antibodies from 16 providers.
DR DNASU; 90987; -.
DR Ensembl; ENST00000292562.12; ENSP00000292562.7; ENSG00000198169.9.
DR Ensembl; ENST00000612318.2; ENSP00000477765.1; ENSG00000278062.2.
DR GeneID; 90987; -.
DR KEGG; hsa:90987; -.
DR MANE-Select; ENST00000292562.12; ENSP00000292562.7; NM_138367.2; NP_612376.1.
DR UCSC; uc003zdv.5; human.
DR CTD; 90987; -.
DR GeneCards; ZNF251; -.
DR HGNC; HGNC:13045; ZNF251.
DR HPA; ENSG00000198169; Low tissue specificity.
DR neXtProt; NX_Q9BRH9; -.
DR OpenTargets; ENSG00000198169; -.
DR PharmGKB; PA37623; -.
DR VEuPathDB; HostDB:ENSG00000198169; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163332; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q9BRH9; -.
DR OMA; IHIKKIF; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9BRH9; -.
DR TreeFam; TF350822; -.
DR PathwayCommons; Q9BRH9; -.
DR SignaLink; Q9BRH9; -.
DR BioGRID-ORCS; 90987; 12 hits in 1096 CRISPR screens.
DR ChiTaRS; ZNF251; human.
DR GenomeRNAi; 90987; -.
DR Pharos; Q9BRH9; Tdark.
DR PRO; PR:Q9BRH9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9BRH9; protein.
DR Bgee; ENSG00000198169; Expressed in cerebellar hemisphere and 92 other tissues.
DR ExpressionAtlas; Q9BRH9; baseline and differential.
DR Genevisible; Q9BRH9; 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:0061484; P:hematopoietic stem cell homeostasis; IEA:Ensembl.
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; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 12.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 12.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 1: Evidence at protein level;
KW DNA-binding; Isopeptide bond; Metal-binding; Nucleus; Reference proteome;
KW Repeat; Transcription; Transcription regulation; Ubl conjugation; Zinc;
KW Zinc-finger.
FT CHAIN 1..671
FT /note="Zinc finger protein 251"
FT /id="PRO_0000047485"
FT DOMAIN 15..86
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 209..231
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 237..259
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 265..287
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 293..315
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 321..343
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 349..371
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 377..399
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 405..427
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 433..455
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 461..483
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 489..511
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 566..588
FT /note="C2H2-type 12; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 594..616
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 622..644
FT /note="C2H2-type 14; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 114
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 157
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 162
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 403
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CONFLICT 204
FT /note="T -> A (in Ref. 1; AK000435)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 671 AA; 75763 MW; BDD04357D9D7825F CRC64;
MAATFQLPGH QEMPLTFQDV AVYFSQAEGR QLGPQQRALY RDVMLENYGN VASLGFPVPK
PELISQLEQG KELWVLNLLG AEEPDILKSC QKDSEVGTKK ELSILNQKFS EEVKTPEFVS
RRLLRDNAQA AEFREAWGRE GKLKERVGNS AGQSLNKPNI HKRVLTEATV GRERSLGERT
QECSAFDRNL NLDQNVVRLQ RNKTGERVFK CDICSKTFKY NSDLSRHQRS HTGEKPYECG
RCGRAFTHSS NLVLHHHIHT GNKPFKCDEC GKTFGLNSHL RLHRRIHTGE KPFGCGECGK
AFSRSSTLIQ HRIIHTGEKP YKCNECGRGF SQSPQLTQHQ RIHTGEKPHE CSHCGKAFSR
SSSLIQHERI HTGEKPHKCN QCGKAFSQSS SLFLHHRVHT GEKPYVCNEC GRAFGFNSHL
TEHVRIHTGE KPYVCNECGK AFRRSSTLVQ HRRVHTGEKP YQCVECGKAF SQSSQLTLHQ
RVHTGEKPYD CGDCGKAFSR RSTLIQHQKV HSGETRKCRK HGPAFVHGSS LTADGQIPTG
EKHGRAFNHG ANLILRWTVH TGEKSFGCNE YGKAFSPTSR PTEDQIMHAG EKPYKCQECG
NAFSGKSTLI QHQVTHTGQK PCHCSVYGKA FSQSSQLTPP QQTRVGEKPA LNDGSKRYFI
HIKKIFQERH F
