ZN250_HUMAN
ID ZN250_HUMAN Reviewed; 560 AA.
AC P15622; D3DWP1; Q59HE9; Q8N942; Q96AH9;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 3.
DT 03-AUG-2022, entry version 210.
DE RecName: Full=Zinc finger protein 250;
DE AltName: Full=Zinc finger protein 647;
GN Name=ZNF250; Synonyms=ZNF647;
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] (ISOFORM 2).
RC TISSUE=Brain;
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 MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RT "Homo sapiens protein coding cDNA.";
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon;
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 250-560 (ISOFORM 1).
RA Ammendola S., Ciliberto G.;
RL Submitted (AUG-1989) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-162, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25755297; DOI=10.1074/mcp.o114.044792;
RA Xiao Z., Chang J.G., Hendriks I.A., Sigurdsson J.O., Olsen J.V.,
RA Vertegaal A.C.;
RT "System-wide analysis of SUMOylation dynamics in response to replication
RT stress reveals novel small ubiquitin-like modified target proteins and
RT acceptor lysines relevant for genome stability.";
RL Mol. Cell. Proteomics 14:1419-1434(2015).
RN [8]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-125; LYS-136; LYS-148; LYS-162;
RP LYS-225 AND LYS-421, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP 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 P15622-3; Q9ULJ7-2: ANKRD50; NbExp=3; IntAct=EBI-10177272, EBI-12239063;
CC P15622-3; Q9NRW3: APOBEC3C; NbExp=3; IntAct=EBI-10177272, EBI-1044593;
CC P15622-3; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-10177272, EBI-3866279;
CC P15622-3; Q9H257: CARD9; NbExp=3; IntAct=EBI-10177272, EBI-751319;
CC P15622-3; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-10177272, EBI-11530605;
CC P15622-3; Q8NA61-2: CBY2; NbExp=3; IntAct=EBI-10177272, EBI-11524851;
CC P15622-3; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-10177272, EBI-10171570;
CC P15622-3; Q86Z20: CCDC125; NbExp=3; IntAct=EBI-10177272, EBI-11977221;
CC P15622-3; Q96JN2-2: CCDC136; NbExp=3; IntAct=EBI-10177272, EBI-10171416;
CC P15622-3; Q16204: CCDC6; NbExp=3; IntAct=EBI-10177272, EBI-1045350;
CC P15622-3; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-10177272, EBI-5278764;
CC P15622-3; Q01850: CDR2; NbExp=3; IntAct=EBI-10177272, EBI-1181367;
CC P15622-3; Q86X02: CDR2L; NbExp=3; IntAct=EBI-10177272, EBI-11063830;
CC P15622-3; Q96MT8-3: CEP63; NbExp=3; IntAct=EBI-10177272, EBI-11522539;
CC P15622-3; Q9H069: DRC3; NbExp=3; IntAct=EBI-10177272, EBI-13070008;
CC P15622-3; Q86V42: FAM124A; NbExp=3; IntAct=EBI-10177272, EBI-744506;
CC P15622-3; Q3B820: FAM161A; NbExp=3; IntAct=EBI-10177272, EBI-719941;
CC P15622-3; Q9BRP7: FDXACB1; NbExp=3; IntAct=EBI-10177272, EBI-10297077;
CC P15622-3; Q5TD97: FHL5; NbExp=5; IntAct=EBI-10177272, EBI-750641;
CC P15622-3; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-10177272, EBI-10172181;
CC P15622-3; O95995: GAS8; NbExp=3; IntAct=EBI-10177272, EBI-1052570;
CC P15622-3; O75496: GMNN; NbExp=3; IntAct=EBI-10177272, EBI-371669;
CC P15622-3; Q3T906: GNPTAB; NbExp=3; IntAct=EBI-10177272, EBI-1104907;
CC P15622-3; Q08379: GOLGA2; NbExp=8; IntAct=EBI-10177272, EBI-618309;
CC P15622-3; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-10177272, EBI-5916454;
CC P15622-3; O75791: GRAP2; NbExp=3; IntAct=EBI-10177272, EBI-740418;
CC P15622-3; Q4V328: GRIPAP1; NbExp=3; IntAct=EBI-10177272, EBI-717919;
CC P15622-3; Q96NT3-2: GUCD1; NbExp=5; IntAct=EBI-10177272, EBI-11978177;
CC P15622-3; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-10177272, EBI-2549423;
CC P15622-3; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-10177272, EBI-10961706;
CC P15622-3; O75031: HSF2BP; NbExp=3; IntAct=EBI-10177272, EBI-7116203;
CC P15622-3; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-10177272, EBI-749265;
CC P15622-3; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-10177272, EBI-14069005;
CC P15622-3; Q15323: KRT31; NbExp=3; IntAct=EBI-10177272, EBI-948001;
CC P15622-3; Q6A162: KRT40; NbExp=6; IntAct=EBI-10177272, EBI-10171697;
CC P15622-3; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10177272, EBI-10172290;
CC P15622-3; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10177272, EBI-10171774;
CC P15622-3; O95751: LDOC1; NbExp=3; IntAct=EBI-10177272, EBI-740738;
CC P15622-3; P25791-3: LMO2; NbExp=3; IntAct=EBI-10177272, EBI-11959475;
CC P15622-3; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-10177272, EBI-1216080;
CC P15622-3; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-10177272, EBI-741037;
CC P15622-3; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-10177272, EBI-746778;
CC P15622-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10177272, EBI-16439278;
CC P15622-3; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-10177272, EBI-10172526;
CC P15622-3; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-10177272, EBI-742948;
CC P15622-3; P13349: MYF5; NbExp=3; IntAct=EBI-10177272, EBI-17491620;
CC P15622-3; Q9GZM8: NDEL1; NbExp=5; IntAct=EBI-10177272, EBI-928842;
CC P15622-3; Q0ZGT2-4: NEXN; NbExp=6; IntAct=EBI-10177272, EBI-10977819;
CC P15622-3; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-10177272, EBI-398874;
CC P15622-3; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-10177272, EBI-14066006;
CC P15622-3; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-10177272, EBI-79165;
CC P15622-3; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-10177272, EBI-742388;
CC P15622-3; Q9GZV8: PRDM14; NbExp=3; IntAct=EBI-10177272, EBI-3957793;
CC P15622-3; Q8WWY3: PRPF31; NbExp=6; IntAct=EBI-10177272, EBI-1567797;
CC P15622-3; Q92622: RUBCN; NbExp=3; IntAct=EBI-10177272, EBI-2952709;
CC P15622-3; Q59EK9-3: RUNDC3A; NbExp=3; IntAct=EBI-10177272, EBI-11957366;
CC P15622-3; Q69YQ0: SPECC1L; NbExp=3; IntAct=EBI-10177272, EBI-351113;
CC P15622-3; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-10177272, EBI-7082156;
CC P15622-3; Q9Y2D8: SSX2IP; NbExp=6; IntAct=EBI-10177272, EBI-2212028;
CC P15622-3; Q16623: STX1A; NbExp=3; IntAct=EBI-10177272, EBI-712466;
CC P15622-3; Q8N205: SYNE4; NbExp=3; IntAct=EBI-10177272, EBI-7131783;
CC P15622-3; P04155: TFF1; NbExp=3; IntAct=EBI-10177272, EBI-743871;
CC P15622-3; Q13470-2: TNK1; NbExp=3; IntAct=EBI-10177272, EBI-11018037;
CC P15622-3; Q63HR2: TNS2; NbExp=3; IntAct=EBI-10177272, EBI-949753;
CC P15622-3; O95985: TOP3B; NbExp=3; IntAct=EBI-10177272, EBI-373403;
CC P15622-3; Q12933: TRAF2; NbExp=3; IntAct=EBI-10177272, EBI-355744;
CC P15622-3; P36406: TRIM23; NbExp=3; IntAct=EBI-10177272, EBI-740098;
CC P15622-3; P14373: TRIM27; NbExp=3; IntAct=EBI-10177272, EBI-719493;
CC P15622-3; Q8WV44: TRIM41; NbExp=9; IntAct=EBI-10177272, EBI-725997;
CC P15622-3; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-10177272, EBI-2130429;
CC P15622-3; P13994: YJU2B; NbExp=3; IntAct=EBI-10177272, EBI-716093;
CC P15622-3; O43298: ZBTB43; NbExp=3; IntAct=EBI-10177272, EBI-740718;
CC P15622-3; Q15916: ZBTB6; NbExp=3; IntAct=EBI-10177272, EBI-7227791;
CC P15622-3; Q96BR9: ZBTB8A; NbExp=3; IntAct=EBI-10177272, EBI-742740;
CC P15622-3; Q9NQZ6: ZC4H2; NbExp=6; IntAct=EBI-10177272, EBI-747993;
CC P15622-3; Q8WW36: ZCCHC13; NbExp=3; IntAct=EBI-10177272, EBI-954111;
CC P15622-3; Q8N3Z6: ZCCHC7; NbExp=3; IntAct=EBI-10177272, EBI-7265024;
CC P15622-3; Q6P2D0: ZFP1; NbExp=3; IntAct=EBI-10177272, EBI-2555749;
CC P15622-3; P49910: ZNF165; NbExp=3; IntAct=EBI-10177272, EBI-741694;
CC P15622-3; Q9Y473: ZNF175; NbExp=3; IntAct=EBI-10177272, EBI-3438881;
CC P15622-3; O95125: ZNF202; NbExp=3; IntAct=EBI-10177272, EBI-751960;
CC P15622-3; P15622-3: ZNF250; NbExp=4; IntAct=EBI-10177272, EBI-10177272;
CC P15622-3; Q9Y3S2: ZNF330; NbExp=3; IntAct=EBI-10177272, EBI-373456;
CC P15622-3; Q14585: ZNF345; NbExp=3; IntAct=EBI-10177272, EBI-2818408;
CC P15622-3; Q14592: ZNF460; NbExp=3; IntAct=EBI-10177272, EBI-2555738;
CC P15622-3; Q8WTR7: ZNF473; NbExp=3; IntAct=EBI-10177272, EBI-751409;
CC P15622-3; Q8IVP9: ZNF547; NbExp=3; IntAct=EBI-10177272, EBI-12895421;
CC P15622-3; Q68EA5: ZNF57; NbExp=3; IntAct=EBI-10177272, EBI-8490788;
CC P15622-3; Q7Z3I7: ZNF572; NbExp=3; IntAct=EBI-10177272, EBI-10172590;
CC P15622-3; Q9UID6: ZNF639; NbExp=3; IntAct=EBI-10177272, EBI-947476;
CC P15622-3; Q5T619: ZNF648; NbExp=5; IntAct=EBI-10177272, EBI-11985915;
CC P15622-3; Q96K58-2: ZNF668; NbExp=3; IntAct=EBI-10177272, EBI-12817597;
CC P15622-3; Q9H5H4: ZNF768; NbExp=3; IntAct=EBI-10177272, EBI-1210580;
CC P15622-3; Q3KQV3: ZNF792; NbExp=3; IntAct=EBI-10177272, EBI-10240849;
CC P15622-3; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-10177272, EBI-11962574;
CC P15622-3; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-10177272, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P15622-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P15622-2; Sequence=VSP_011039, VSP_011040;
CC Name=3;
CC IsoId=P15622-3; Sequence=VSP_011039;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD92047.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAA34358.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK095705; BAC04614.1; -; mRNA.
DR EMBL; AB208810; BAD92047.1; ALT_INIT; mRNA.
DR EMBL; AF235103; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471162; EAW82029.1; -; Genomic_DNA.
DR EMBL; CH471162; EAW82030.1; -; Genomic_DNA.
DR EMBL; BC017091; AAH17091.2; -; mRNA.
DR EMBL; X16282; CAA34358.1; ALT_FRAME; mRNA.
DR CCDS; CCDS34972.1; -. [P15622-1]
DR CCDS; CCDS55282.1; -. [P15622-3]
DR PIR; S06781; S06781.
DR RefSeq; NP_001103159.1; NM_001109689.3. [P15622-3]
DR RefSeq; NP_066405.1; NM_021061.4. [P15622-1]
DR RefSeq; XP_005272384.1; XM_005272327.1.
DR RefSeq; XP_005272385.1; XM_005272328.3.
DR RefSeq; XP_006716675.1; XM_006716612.3.
DR RefSeq; XP_006716676.1; XM_006716613.3.
DR RefSeq; XP_011515511.1; XM_011517209.1.
DR AlphaFoldDB; P15622; -.
DR SMR; P15622; -.
DR BioGRID; 121830; 122.
DR IntAct; P15622; 117.
DR MINT; P15622; -.
DR STRING; 9606.ENSP00000292579; -.
DR iPTMnet; P15622; -.
DR PhosphoSitePlus; P15622; -.
DR BioMuta; ZNF250; -.
DR DMDM; 50403721; -.
DR REPRODUCTION-2DPAGE; P15622; -.
DR EPD; P15622; -.
DR jPOST; P15622; -.
DR MassIVE; P15622; -.
DR MaxQB; P15622; -.
DR PaxDb; P15622; -.
DR PeptideAtlas; P15622; -.
DR PRIDE; P15622; -.
DR ProteomicsDB; 12774; -.
DR ProteomicsDB; 53193; -. [P15622-1]
DR ProteomicsDB; 53194; -. [P15622-2]
DR Antibodypedia; 15013; 10 antibodies from 8 providers.
DR DNASU; 58500; -.
DR Ensembl; ENST00000292579.11; ENSP00000292579.7; ENSG00000196150.14. [P15622-1]
DR Ensembl; ENST00000417550.7; ENSP00000393442.2; ENSG00000196150.14. [P15622-3]
DR GeneID; 58500; -.
DR KEGG; hsa:58500; -.
DR MANE-Select; ENST00000417550.7; ENSP00000393442.2; NM_001109689.4; NP_001103159.1. [P15622-3]
DR UCSC; uc003zeq.4; human. [P15622-1]
DR CTD; 58500; -.
DR DisGeNET; 58500; -.
DR GeneCards; ZNF250; -.
DR HGNC; HGNC:13044; ZNF250.
DR HPA; ENSG00000196150; Low tissue specificity.
DR neXtProt; NX_P15622; -.
DR OpenTargets; ENSG00000196150; -.
DR PharmGKB; PA37622; -.
DR VEuPathDB; HostDB:ENSG00000196150; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162306; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; P15622; -.
DR OMA; CMQQDSL; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; P15622; -.
DR TreeFam; TF341817; -.
DR PathwayCommons; P15622; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; P15622; -.
DR BioGRID-ORCS; 58500; 14 hits in 1105 CRISPR screens.
DR GenomeRNAi; 58500; -.
DR Pharos; P15622; Tdark.
DR PRO; PR:P15622; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P15622; protein.
DR Bgee; ENSG00000196150; Expressed in cortical plate and 120 other tissues.
DR ExpressionAtlas; P15622; baseline and differential.
DR Genevisible; P15622; 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:0042802; F:identical protein binding; IPI:IntAct.
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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
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; 13.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 13.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 13.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..560
FT /note="Zinc finger protein 250"
FT /id="PRO_0000047483"
FT DOMAIN 22..93
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 199..221
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 227..249
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 255..277
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 283..305
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 311..333
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 339..361
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 367..389
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 395..417
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 423..445
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 451..473
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 479..501
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 507..529
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 535..557
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 125
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 136
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 148
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:25755297,
FT ECO:0007744|PubMed:28112733"
FT CROSSLNK 225
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 421
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 15..19
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_011039"
FT VAR_SEQ 366..477
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_011040"
FT CONFLICT 515..521
FT /note="AFSQYSV -> PSASTQL (in Ref. 6)"
FT /evidence="ECO:0000305"
FT CONFLICT 542
FT /note="R -> G (in Ref. 6)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 560 AA; 63468 MW; 800170E1875D988C CRC64;
MAAARLLPVP AGPQPLSFQA KLTFEDVAVL LSQDEWDRLC PAQRGLYRNV MMETYGNVVS
LGLPGSKPDI ISQLERGEDP WVLDRKGAKK SQGLWSDYSD NLKYDHTTAC TQQDSLSCPW
ECETKGESQN TDLSPKPLIS EQTVILGKTP LGRIDQENNE TKQSFCLSPN SVDHREVQVL
SQSMPLTPHQ AVPSGERPYM CVECGKCFGR SSHLLQHQRI HTGEKPYVCS VCGKAFSQSS
VLSKHRRIHT GEKPYECNEC GKAFRVSSDL AQHHKIHTGE KPHECLECRK AFTQLSHLIQ
HQRIHTGERP YVCPLCGKAF NHSTVLRSHQ RVHTGEKPHR CNECGKTFSV KRTLLQHQRI
HTGEKPYTCS ECGKAFSDRS VLIQHHNVHT GEKPYECSEC GKTFSHRSTL MNHERIHTEE
KPYACYECGK AFVQHSHLIQ HQRVHTGEKP YVCGECGHAF SARRSLIQHE RIHTGEKPFQ
CTECGKAFSL KATLIVHLRT HTGEKPYECN SCGKAFSQYS VLIQHQRIHT GEKPYECGEC
GRAFNQHGHL IQHQKVHRKL
