ZN384_HUMAN
ID ZN384_HUMAN Reviewed; 577 AA.
AC Q8TF68; O15407; Q7Z722; Q8N938;
DT 28-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Zinc finger protein 384;
DE AltName: Full=CAG repeat protein 1;
DE AltName: Full=CAS-interacting zinc finger protein;
DE AltName: Full=Nuclear matrix transcription factor 4;
DE Short=Nuclear matrix protein 4;
DE AltName: Full=Trinucleotide repeat-containing gene 1 protein;
GN Name=ZNF384; Synonyms=CAGH1, CIZ, NMP4, TNRC1;
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 [GENOMIC DNA] (ISOFORM 1).
RA Matsuo M.Y.;
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 395-577 (ISOFORMS 1/2/3).
RC TISSUE=Brain cortex;
RX PubMed=9225980; DOI=10.1007/s004390050476;
RA Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S.,
RA Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A.;
RT "cDNAs with long CAG trinucleotide repeats from human brain.";
RL Hum. Genet. 100:114-122(1997).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
CC -!- FUNCTION: Transcription factor that binds the consensus DNA sequence
CC [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7
CC and COL1A1 (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with BCAR1. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q8TF68-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TF68-2; Sequence=VSP_006920;
CC Name=3;
CC IsoId=Q8TF68-3; Sequence=VSP_040314, VSP_040315;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/ZNF384ID42881ch12p13.html";
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DR EMBL; AB070238; BAB85125.1; -; Genomic_DNA.
DR EMBL; AK095734; BAC04618.1; -; mRNA.
DR EMBL; AC125494; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471116; EAW88756.1; -; Genomic_DNA.
DR EMBL; BC053361; AAH53361.1; -; mRNA.
DR EMBL; U80738; AAB91437.1; -; mRNA.
DR CCDS; CCDS31732.1; -. [Q8TF68-3]
DR CCDS; CCDS44817.1; -. [Q8TF68-1]
DR CCDS; CCDS8557.1; -. [Q8TF68-2]
DR RefSeq; NP_001035009.1; NM_001039920.2. [Q8TF68-3]
DR RefSeq; NP_001129206.1; NM_001135734.2. [Q8TF68-1]
DR RefSeq; NP_597733.2; NM_133476.4. [Q8TF68-2]
DR RefSeq; XP_016874430.1; XM_017018941.1. [Q8TF68-1]
DR RefSeq; XP_016874431.1; XM_017018942.1. [Q8TF68-1]
DR RefSeq; XP_016874432.1; XM_017018943.1. [Q8TF68-1]
DR RefSeq; XP_016874438.1; XM_017018949.1. [Q8TF68-2]
DR RefSeq; XP_016874439.1; XM_017018950.1. [Q8TF68-2]
DR AlphaFoldDB; Q8TF68; -.
DR SMR; Q8TF68; -.
DR BioGRID; 128100; 48.
DR IntAct; Q8TF68; 11.
DR MINT; Q8TF68; -.
DR STRING; 9606.ENSP00000380019; -.
DR GlyGen; Q8TF68; 7 sites, 2 O-linked glycans (7 sites).
DR iPTMnet; Q8TF68; -.
DR PhosphoSitePlus; Q8TF68; -.
DR SwissPalm; Q8TF68; -.
DR BioMuta; ZNF384; -.
DR DMDM; 296453052; -.
DR EPD; Q8TF68; -.
DR jPOST; Q8TF68; -.
DR MassIVE; Q8TF68; -.
DR MaxQB; Q8TF68; -.
DR PaxDb; Q8TF68; -.
DR PeptideAtlas; Q8TF68; -.
DR PRIDE; Q8TF68; -.
DR ProteomicsDB; 74568; -. [Q8TF68-1]
DR ProteomicsDB; 74569; -. [Q8TF68-2]
DR ProteomicsDB; 74570; -. [Q8TF68-3]
DR Antibodypedia; 1314; 208 antibodies from 25 providers.
DR DNASU; 171017; -.
DR Ensembl; ENST00000319770.7; ENSP00000321650.4; ENSG00000126746.18. [Q8TF68-2]
DR Ensembl; ENST00000355772.8; ENSP00000348018.4; ENSG00000126746.18. [Q8TF68-3]
DR Ensembl; ENST00000361959.7; ENSP00000354592.3; ENSG00000126746.18. [Q8TF68-1]
DR Ensembl; ENST00000396801.7; ENSP00000380019.3; ENSG00000126746.18. [Q8TF68-1]
DR GeneID; 171017; -.
DR KEGG; hsa:171017; -.
DR UCSC; uc001qqa.4; human. [Q8TF68-1]
DR CTD; 171017; -.
DR DisGeNET; 171017; -.
DR GeneCards; ZNF384; -.
DR HGNC; HGNC:11955; ZNF384.
DR HPA; ENSG00000126746; Low tissue specificity.
DR MIM; 609951; gene.
DR neXtProt; NX_Q8TF68; -.
DR OpenTargets; ENSG00000126746; -.
DR PharmGKB; PA36644; -.
DR VEuPathDB; HostDB:ENSG00000126746; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000156904; -.
DR HOGENOM; CLU_028030_0_0_1; -.
DR InParanoid; Q8TF68; -.
DR OMA; QMENAMF; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8TF68; -.
DR TreeFam; TF336115; -.
DR PathwayCommons; Q8TF68; -.
DR SignaLink; Q8TF68; -.
DR SIGNOR; Q8TF68; -.
DR BioGRID-ORCS; 171017; 16 hits in 1103 CRISPR screens.
DR ChiTaRS; ZNF384; human.
DR GeneWiki; ZNF384; -.
DR GenomeRNAi; 171017; -.
DR Pharos; Q8TF68; Tbio.
DR PRO; PR:Q8TF68; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8TF68; protein.
DR Bgee; ENSG00000126746; Expressed in body of uterus and 199 other tissues.
DR ExpressionAtlas; Q8TF68; baseline and differential.
DR Genevisible; Q8TF68; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator 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: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 InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 6.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..577
FT /note="Zinc finger protein 384"
FT /id="PRO_0000047552"
FT ZN_FING 228..250
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 256..278
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 284..306
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 317..339
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 345..367
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 373..397
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 403..425
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 433..455
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 171..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 501..550
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 501..520
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 214
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231"
FT VAR_SEQ 102..156
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040314"
FT VAR_SEQ 293..353
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040315"
FT VAR_SEQ 300..360
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_006920"
FT CONFLICT 501
FT /note="Missing (in Ref. 1; BAB85125, 2; BAC04618, 4;
FT EAW88756, 5; AAH53361 and 6; AAB91437)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 577 AA; 63219 MW; 5899CAB02DBBE0CB CRC64;
MEESHFNSNP YFWPSIPTVS GQIENTMFIN KMKDQLLPEK GCGLAPPHYP TLLTVPASVS
LPSGISMDTE SKSDQLTPHS QASVTQNITV VPVPSTGLMT AGVSCSQRWR REGSQSRGPG
LVITSPSGSL VTTASSAQTF PISAPMIVSA LPPGSQALQV VPDLSKKVAS TLTEEGGGGG
GGGGSVAPKP PRGRKKKRML ESGLPEMNDP YVLSPEDDDD HQKDGKTYRC RMCSLTFYSK
SEMQIHSKSH TETKPHKCPH CSKTFANSSY LAQHIRIHSG AKPYSCNFCE KSFRQLSHLQ
QHTRIHSKMH TETIKPHKCP HCSKTFANTS YLAQHLRIHS GAKPYNCSYC QKAFRQLSHL
QQHTRIHTGD RPYKCAHPGC EKAFTQLSNL QSHRRQHNKD KPFKCHNCHR AYTDAASLEV
HLSTHTVKHA KVYTCTICSR AYTSETYLMK HMRKHNPPDL QQQVQAAAAA AAVAQAQAQA
QAQAQAQAQA QAQAQASQAS QQQQQQQQQQ QQQQQQPPPH FQSPGAAPQG GGGGDSNPNP
PPQCSFDLTP YKTAEHHKDI CLTVTTSTIQ VEHLASS
