ZN382_HUMAN
ID ZN382_HUMAN Reviewed; 550 AA.
AC Q96SR6; A3KMP6; A8MT55; C9K0V5; Q53ZY8; Q5JPJ2;
DT 28-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=Zinc finger protein 382;
DE AltName: Full=KRAB/zinc finger suppressor protein 1;
DE Short=KS1;
DE AltName: Full=Multiple zinc finger and krueppel-associated box protein KS1;
GN Name=ZNF382;
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), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Embryonic heart;
RX PubMed=12459182; DOI=10.1016/s0006-291x(02)02700-6;
RA Luo K., Yuan W., Zhu C., Li Y., Wang Y., Zeng W., Jiao W., Liu M., Wu X.;
RT "Expression of a novel Kruppel-like zinc-finger gene, ZNF382, in human
RT heart.";
RL Biochem. Biophys. Res. Commun. 299:606-612(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Urrutia R., Folch-Puy E., Fernandez-Zapico M.;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
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 MRNA] (ISOFORM 3), AND VARIANT GLY-168.
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLY-168.
RC TISSUE=Brain;
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: Functions as a sequence-specific transcriptional repressor.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with TRIM28; enhances the transcriptional repressor
CC activity. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96SR6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96SR6-2; Sequence=VSP_036224;
CC Name=3;
CC IsoId=Q96SR6-3; Sequence=VSP_036225;
CC -!- TISSUE SPECIFICITY: Specifically expressed in heart with a weaker
CC expression also detected in skeletal muscle.
CC {ECO:0000269|PubMed:12459182}.
CC -!- DEVELOPMENTAL STAGE: Primarily detected in 34 day-old embryos. Widely
CC expressed at different levels during embryonic development where it is
CC predominantly expressed in cerebellum, kidney, and cerebrum and to a
CC lesser extent in lung, heart, skeletal muscle, tongue, and adrenal
CC gland. {ECO:0000269|PubMed:12459182}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF513816; AAM48246.1; -; mRNA.
DR EMBL; AY227449; AAO72308.1; -; mRNA.
DR EMBL; AK027592; BAB55217.1; -; mRNA.
DR EMBL; AL832265; CAI46159.1; -; mRNA.
DR EMBL; AC074138; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132675; AAI32676.2; -; mRNA.
DR CCDS; CCDS33004.1; -. [Q96SR6-1]
DR CCDS; CCDS58659.1; -. [Q96SR6-2]
DR RefSeq; NP_001243767.1; NM_001256838.1. [Q96SR6-2]
DR RefSeq; NP_116214.2; NM_032825.4. [Q96SR6-1]
DR AlphaFoldDB; Q96SR6; -.
DR SMR; Q96SR6; -.
DR BioGRID; 124348; 7.
DR IntAct; Q96SR6; 1.
DR STRING; 9606.ENSP00000292928; -.
DR iPTMnet; Q96SR6; -.
DR PhosphoSitePlus; Q96SR6; -.
DR BioMuta; ZNF382; -.
DR DMDM; 313104256; -.
DR jPOST; Q96SR6; -.
DR MassIVE; Q96SR6; -.
DR MaxQB; Q96SR6; -.
DR PaxDb; Q96SR6; -.
DR PeptideAtlas; Q96SR6; -.
DR PRIDE; Q96SR6; -.
DR ProteomicsDB; 78140; -. [Q96SR6-1]
DR ProteomicsDB; 78141; -. [Q96SR6-2]
DR ProteomicsDB; 78142; -. [Q96SR6-3]
DR Antibodypedia; 16319; 30 antibodies from 15 providers.
DR DNASU; 84911; -.
DR Ensembl; ENST00000292928.7; ENSP00000292928.2; ENSG00000161298.19. [Q96SR6-1]
DR Ensembl; ENST00000435416.1; ENSP00000410113.1; ENSG00000161298.19. [Q96SR6-3]
DR Ensembl; ENST00000439428.5; ENSP00000407593.1; ENSG00000161298.19. [Q96SR6-2]
DR GeneID; 84911; -.
DR KEGG; hsa:84911; -.
DR MANE-Select; ENST00000292928.7; ENSP00000292928.2; NM_032825.5; NP_116214.2.
DR UCSC; uc002oek.5; human. [Q96SR6-1]
DR CTD; 84911; -.
DR DisGeNET; 84911; -.
DR GeneCards; ZNF382; -.
DR HGNC; HGNC:17409; ZNF382.
DR HPA; ENSG00000161298; Tissue enhanced (brain, retina).
DR MIM; 609516; gene.
DR neXtProt; NX_Q96SR6; -.
DR OpenTargets; ENSG00000161298; -.
DR PharmGKB; PA134869965; -.
DR VEuPathDB; HostDB:ENSG00000161298; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162338; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q96SR6; -.
DR OMA; GFHITKP; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96SR6; -.
DR TreeFam; TF337898; -.
DR PathwayCommons; Q96SR6; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q96SR6; -.
DR SIGNOR; Q96SR6; -.
DR BioGRID-ORCS; 84911; 181 hits in 1090 CRISPR screens.
DR ChiTaRS; ZNF382; human.
DR GenomeRNAi; 84911; -.
DR Pharos; Q96SR6; Tbio.
DR PRO; PR:Q96SR6; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96SR6; protein.
DR Bgee; ENSG00000161298; Expressed in right hemisphere of cerebellum and 114 other tissues.
DR ExpressionAtlas; Q96SR6; baseline and differential.
DR Genevisible; Q96SR6; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; 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: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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 9.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 10.
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..550
FT /note="Zinc finger protein 382"
FT /id="PRO_0000047549"
FT DOMAIN 7..78
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 212..234
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 296..318
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 324..346
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 352..374
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 380..402
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 408..430
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 436..458
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 464..486
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 492..514
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 520..542
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..105
FT /note="Mediates interaction with TRIM28"
FT /evidence="ECO:0000250"
FT REGION 5..46
FT /note="Represses transcription"
FT /evidence="ECO:0000250"
FT REGION 70..211
FT /note="Represses transcription"
FT /evidence="ECO:0000250"
FT REGION 296..550
FT /note="Required for transcriptional repression activity;
FT probably mediates sequence-specific DNA-binding"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..3
FT /note="MPL -> MS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_036224"
FT VAR_SEQ 78
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_036225"
FT VARIANT 168
FT /note="E -> G (in dbSNP:rs3108171)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_054226"
FT CONFLICT 129..130
FT /note="Missing (in Ref. 1; AAM48246, 2; AAO72308 and 3;
FT BAB55217)"
FT /evidence="ECO:0000305"
FT CONFLICT 547
FT /note="T -> M (in Ref. 6; AAI32676)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 550 AA; 64010 MW; 6D0706EA069DDD0B CRC64;
MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM AKPDMIRKLE
QGEELWTQRI FPSYSYLEED GKTEDVLVKF KEYQDRHSRP LIFINHKKLI KERSNIYGKT
FTLGKNRISK TILCEYKPDG KVLKNISELV IRNISPIKEK FGDSTGWEKS LLNTKHEKIH
PAVNLHKQTE RVLSGKQELI QHQKVQAPEQ PFDHNECEKS FLMKGMLFTH TRAHRGERTF
EYNKDGIAFI EKSSLSVHPS NLMEKKPSAY NKYGKFLCRK PVFIMPQRPQ TEEKPFHCPY
CGNNFRRKSY LIEHQRIHTG EKPYVCNQCG KAFRQKTALT LHEKTHIEGK PFICIDCGKS
FRQKATLTRH HKTHTGEKAY ECPQCGSAFR KKSYLIDHQR THTGEKPYQC NECGKAFIQK
TTLTVHQRTH TGEKPYICNE CGKSFCQKTT LTLHQRIHTG EKPYICNECG KSFRQKAILT
VHHRIHTGEK SNGCPQCGKA FSRKSNLIRH QKTHTGEKPY ECKQCGKFFS CKSNLIVHQK
THKVETTGIQ
