ID ZN350_HUMAN Reviewed; 532 AA. AC Q9GZX5; Q96G73; Q9HAQ4; DT 23-NOV-2004, integrated into UniProtKB/Swiss-Prot. DT 30-NOV-2010, sequence version 3. DT 27-MAR-2024, entry version 181. DE RecName: Full=Zinc finger protein 350; DE AltName: Full=KRAB zinc finger protein ZFQR; DE AltName: Full=Zinc finger and BRCA1-interacting protein with a KRAB domain 1; DE AltName: Full=Zinc finger protein ZBRK1; GN Name=ZNF350; Synonyms=ZBRK1; 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], VARIANTS PRO-66 AND SER-501, FUNCTION, AND RP INTERACTION WITH BRCA1. RX PubMed=11090615; DOI=10.1016/s1097-2765(00)00075-7; RA Zheng L., Pan H., Li S., Flesken-Nikitin A., Chen L.P., Boyer G.T., RA Lee H.W.; RT "Sequence-specific transcriptional corepressor function for BRCA1 through a RT novel zinc finger protein, ZBRK1."; RL Mol. Cell 6:757-768(2000). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-524, TISSUE SPECIFICITY, AND RP SUBCELLULAR LOCATION. RX PubMed=11161714; DOI=10.1006/excr.2000.5068; RA Ran Q., Wadhwa R., Bischof O., Venable S., Smith J.R., Pereira-Smith O.M.; RT "Characterization of a novel zinc finger gene with increased expression in RT nondividing normal human cells."; RL Exp. Cell Res. 263:156-162(2001). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PRO-66 AND SER-501. RC TISSUE=Placenta; 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 [4] 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.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 (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Kidney; 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 [7] RP SUBCELLULAR LOCATION. RX PubMed=23665872; DOI=10.1007/s00018-013-1359-4; RA Wang W., Cai J., Wu Y., Hu L., Chen Z., Hu J., Chen Z., Li W., Guo M., RA Huang Z.; RT "Novel activity of KRAB domain that functions to reinforce nuclear RT localization of KRAB-containing zinc finger proteins by interacting with RT KAP1."; RL Cell. Mol. Life Sci. 70:3947-3958(2013). RN [8] RP VARIANTS PRO-66; PRO-472; SER-501 AND ILE-524. RX PubMed=12872252; DOI=10.1002/humu.10238; RA Rutter J.L., Smith A.M., Davila M.R., Sigurdson A.J., Giusti R.M., RA Pineda M.A., Doody M.M., Tucker M.A., Greene M.H., Zhang J., RA Struewing J.P.; RT "Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and RT BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian RT cancer families and among early-onset breast cancer cases and reference RT individuals."; RL Hum. Mutat. 22:121-128(2003). RN [9] RP INTERACTION WITH RNF11. RX PubMed=14755250; DOI=10.1038/sj.onc.1207319; RA Li H., Seth A.K.; RT "An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein."; RL Oncogene 23:1801-1808(2004). CC -!- FUNCTION: Transcriptional repressor. Binds to a specific sequence, 5'- CC GGGxxxCAGxxxTTT-3', within GADD45 intron 3. CC {ECO:0000269|PubMed:11090615}. CC -!- SUBUNIT: Interacts with BRCA1. Interacts with RNF11. CC {ECO:0000269|PubMed:11090615, ECO:0000269|PubMed:14755250}. CC -!- INTERACTION: CC Q9GZX5; P38398: BRCA1; NbExp=3; IntAct=EBI-396421, EBI-349905; CC -!- SUBCELLULAR LOCATION: Nucleus. Nucleus matrix. Note=Associated with the CC nuclear matrix. CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11161714}. CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF295096; AAG17439.1; -; mRNA. DR EMBL; AF309561; AAG25714.1; -; mRNA. DR EMBL; AK023467; BAB14583.1; -; mRNA. DR EMBL; AC011460; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471135; EAW72056.1; -; Genomic_DNA. DR EMBL; BC009921; AAH09921.1; -; mRNA. DR CCDS; CCDS12845.1; -. DR RefSeq; NP_067645.3; NM_021632.3. DR RefSeq; XP_016882587.1; XM_017027098.1. DR RefSeq; XP_016882588.1; XM_017027099.1. DR RefSeq; XP_016882589.1; XM_017027100.1. DR AlphaFoldDB; Q9GZX5; -. DR SMR; Q9GZX5; -. DR BioGRID; 121889; 22. DR CORUM; Q9GZX5; -. DR IntAct; Q9GZX5; 10. DR MINT; Q9GZX5; -. DR STRING; 9606.ENSP00000243644; -. DR iPTMnet; Q9GZX5; -. DR PhosphoSitePlus; Q9GZX5; -. DR BioMuta; ZNF350; -. DR DMDM; 313104255; -. DR EPD; Q9GZX5; -. DR jPOST; Q9GZX5; -. DR MassIVE; Q9GZX5; -. DR MaxQB; Q9GZX5; -. DR PaxDb; 9606-ENSP00000243644; -. DR PeptideAtlas; Q9GZX5; -. DR ProteomicsDB; 80166; -. DR Antibodypedia; 49600; 227 antibodies from 25 providers. DR DNASU; 59348; -. DR Ensembl; ENST00000243644.9; ENSP00000243644.3; ENSG00000256683.7. DR GeneID; 59348; -. DR KEGG; hsa:59348; -. DR MANE-Select; ENST00000243644.9; ENSP00000243644.3; NM_021632.4; NP_067645.3. DR UCSC; uc002pyd.4; human. DR AGR; HGNC:16656; -. DR CTD; 59348; -. DR DisGeNET; 59348; -. DR GeneCards; ZNF350; -. DR HGNC; HGNC:16656; ZNF350. DR HPA; ENSG00000256683; Low tissue specificity. DR MIM; 605422; gene. DR neXtProt; NX_Q9GZX5; -. DR OpenTargets; ENSG00000256683; -. DR PharmGKB; PA134972827; -. DR VEuPathDB; HostDB:ENSG00000256683; -. DR eggNOG; KOG1721; Eukaryota. DR GeneTree; ENSGT00940000162449; -. DR HOGENOM; CLU_002678_0_2_1; -. DR InParanoid; Q9GZX5; -. DR OMA; CHENDAF; -. DR OrthoDB; 5260927at2759; -. DR PhylomeDB; Q9GZX5; -. DR TreeFam; TF340593; -. DR PathwayCommons; Q9GZX5; -. DR Reactome; R-HSA-212436; Generic Transcription Pathway. DR Reactome; R-HSA-3899300; SUMOylation of transcription cofactors. DR SignaLink; Q9GZX5; -. DR BioGRID-ORCS; 59348; 11 hits in 1154 CRISPR screens. DR ChiTaRS; ZNF350; human. DR GeneWiki; ZNF350; -. DR GenomeRNAi; 59348; -. DR Pharos; Q9GZX5; Tbio. DR PRO; PR:Q9GZX5; -. DR Proteomes; UP000005640; Chromosome 19. DR RNAct; Q9GZX5; Protein. DR Bgee; ENSG00000256683; Expressed in calcaneal tendon and 150 other cell types or tissues. DR ExpressionAtlas; Q9GZX5; baseline and differential. DR GO; GO:0016604; C:nuclear body; IDA:HPA. DR GO; GO:0016363; C:nuclear matrix; IEA:UniProtKB-SubCell. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0017053; C:transcription repressor complex; IDA:UniProtKB. DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB. DR GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central. DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB. 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:0001162; F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB. DR GO; GO:0045892; P:negative regulation of DNA-templated transcription; IDA:UniProtKB. DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB. DR GO; GO:0006355; P:regulation of DNA-templated transcription; IDA:UniProtKB. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR CDD; cd07765; KRAB_A-box; 1. DR Gene3D; 6.10.140.140; -; 1. DR Gene3D; 3.30.160.60; Classic Zinc Finger; 8. DR InterPro; IPR001909; KRAB. DR InterPro; IPR036051; KRAB_dom_sf. DR InterPro; IPR036236; Znf_C2H2_sf. DR InterPro; IPR013087; Znf_C2H2_type. DR PANTHER; PTHR23232; KRAB DOMAIN C2H2 ZINC FINGER; 1. DR PANTHER; PTHR23232:SF137; ZINC FINGER PROTEIN 8; 1. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 6. DR Pfam; PF13465; zf-H2C2_2; 1. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 8. DR SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 4. DR SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8. DR Genevisible; Q9GZX5; HS. PE 1: Evidence at protein level; KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat; Repressor; KW Transcription; Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1..532 FT /note="Zinc finger protein 350" FT /id="PRO_0000047546" FT DOMAIN 8..79 FT /note="KRAB" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119" FT ZN_FING 206..228 FT /note="C2H2-type 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 234..256 FT /note="C2H2-type 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 262..284 FT /note="C2H2-type 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 290..312 FT /note="C2H2-type 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 318..340 FT /note="C2H2-type 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 346..368 FT /note="C2H2-type 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 374..396 FT /note="C2H2-type 7" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 402..424 FT /note="C2H2-type 8" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT REGION 427..465 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 427..448 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 449..465 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VARIANT 37 FT /note="M -> I (in dbSNP:rs4987241)" FT /id="VAR_046718" FT VARIANT 66 FT /note="L -> P (in dbSNP:rs2278420)" FT /evidence="ECO:0000269|PubMed:11090615, FT ECO:0000269|PubMed:12872252, ECO:0000269|PubMed:14702039" FT /id="VAR_019902" FT VARIANT 69 FT /note="I -> T (in dbSNP:rs4987042)" FT /id="VAR_046719" FT VARIANT 132 FT /note="R -> C (in dbSNP:rs28997584)" FT /id="VAR_046720" FT VARIANT 406 FT /note="E -> K (in dbSNP:rs3764539)" FT /id="VAR_046721" FT VARIANT 472 FT /note="S -> P (in dbSNP:rs4986771)" FT /evidence="ECO:0000269|PubMed:12872252" FT /id="VAR_019903" FT VARIANT 501 FT /note="R -> S (in dbSNP:rs2278415)" FT /evidence="ECO:0000269|PubMed:11090615, FT ECO:0000269|PubMed:12872252, ECO:0000269|PubMed:14702039" FT /id="VAR_019904" FT VARIANT 524 FT /note="V -> I (in dbSNP:rs4988337)" FT /evidence="ECO:0000269|PubMed:11161714, FT ECO:0000269|PubMed:12872252" FT /id="VAR_019905" SQ SEQUENCE 532 AA; 60011 MW; FEF12A92F95BAC8A CRC64; MIQAQESITL EDVAVDFTWE EWQLLGAAQK DLYRDVMLEN YSNLVAVGYQ ASKPDALFKL EQGEQLWTIE DGIHSGACSD IWKVDHVLER LQSESLVNRR KPCHEHDAFE NIVHCSKSQF LLGQNHDIFD LRGKSLKSNL TLVNQSKGYE IKNSVEFTGN GDSFLHANHE RLHTAIKFPA SQKLISTKSQ FISPKHQKTR KLEKHHVCSE CGKAFIKKSW LTDHQVMHTG EKPHRCSLCE KAFSRKFMLT EHQRTHTGEK PYECPECGKA FLKKSRLNIH QKTHTGEKPY ICSECGKGFI QKGNLIVHQR IHTGEKPYIC NECGKGFIQK TCLIAHQRFH TGKTPFVCSE CGKSCSQKSG LIKHQRIHTG EKPFECSECG KAFSTKQKLI VHQRTHTGER PYGCNECGKA FAYMSCLVKH KRIHTREKQE AAKVENPPAE RHSSLHTSDV MQEKNSANGA TTQVPSVAPQ TSLNISGLLA NRNVVLVGQP VVRCAASGDN RGFAQDRNLV NAVNVVVPSV INYVLFYVTE NP //