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Zinc finger protein 384 (CAG repeat protein 1) (CAS-interacting zinc finger protein) (Nuclear matrix transcription factor 4) (Nuclear matrix protein 4) (Trinucleotide repeat-containing gene 1 protein)

 ZN384_HUMAN             Reviewed;         577 AA.
Q8TF68; O15407; Q7Z722; Q8N938;
28-FEB-2003, integrated into UniProtKB/Swiss-Prot.
18-MAY-2010, sequence version 2.
25-OCT-2017, entry version 144.
RecName: Full=Zinc finger protein 384;
AltName: Full=CAG repeat protein 1;
AltName: Full=CAS-interacting zinc finger protein;
AltName: Full=Nuclear matrix transcription factor 4;
Short=Nuclear matrix protein 4;
AltName: Full=Trinucleotide repeat-containing gene 1 protein;
Name=ZNF384; Synonyms=CAGH1, CIZ, NMP4, TNRC1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
Matsuo M.Y.;
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16541075; DOI=10.1038/nature04569;
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
Kucherlapati R., Weinstock G., Gibbs R.A.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 395-577 (ISOFORMS 1/2/3).
TISSUE=Brain cortex;
PubMed=9225980; DOI=10.1007/s004390050476;
Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S.,
Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A.;
"cDNAs with long CAG trinucleotide repeats from human brain.";
Hum. Genet. 100:114-122(1997).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
-!- FUNCTION: Transcription factor that binds the consensus DNA
sequence [GC]AAAAA. Seems to bind and regulate the promoters of
MMP1, MMP3, MMP7 and COL1A1 (By similarity). {ECO:0000250}.
-!- SUBUNIT: Interacts with BCAR1. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Comment=Additional isoforms seem to exist.;
Name=1;
IsoId=Q8TF68-1; Sequence=Displayed;
Name=2;
IsoId=Q8TF68-2; Sequence=VSP_006920;
Name=3;
IsoId=Q8TF68-3; Sequence=VSP_040314, VSP_040315;
Note=No experimental confirmation available.;
-!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/ZNF384ID42881ch12p13.html";
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EMBL; AB070238; BAB85125.1; -; Genomic_DNA.
EMBL; AK095734; BAC04618.1; -; mRNA.
EMBL; AC125494; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471116; EAW88756.1; -; Genomic_DNA.
EMBL; BC053361; AAH53361.1; -; mRNA.
EMBL; U80738; AAB91437.1; -; mRNA.
CCDS; CCDS31732.1; -. [Q8TF68-3]
CCDS; CCDS44817.1; -. [Q8TF68-1]
CCDS; CCDS8557.1; -. [Q8TF68-2]
RefSeq; NP_001035009.1; NM_001039920.2. [Q8TF68-3]
RefSeq; NP_001129206.1; NM_001135734.2. [Q8TF68-1]
RefSeq; NP_597733.2; NM_133476.4. [Q8TF68-2]
RefSeq; XP_016874430.1; XM_017018941.1. [Q8TF68-1]
RefSeq; XP_016874431.1; XM_017018942.1. [Q8TF68-1]
RefSeq; XP_016874432.1; XM_017018943.1. [Q8TF68-1]
RefSeq; XP_016874438.1; XM_017018949.1. [Q8TF68-2]
RefSeq; XP_016874439.1; XM_017018950.1. [Q8TF68-2]
UniGene; Hs.103315; -.
ProteinModelPortal; Q8TF68; -.
SMR; Q8TF68; -.
BioGrid; 128100; 8.
IntAct; Q8TF68; 3.
STRING; 9606.ENSP00000354592; -.
iPTMnet; Q8TF68; -.
PhosphoSitePlus; Q8TF68; -.
BioMuta; ZNF384; -.
DMDM; 296453052; -.
EPD; Q8TF68; -.
MaxQB; Q8TF68; -.
PaxDb; Q8TF68; -.
PeptideAtlas; Q8TF68; -.
PRIDE; Q8TF68; -.
Ensembl; ENST00000319770; ENSP00000321650; ENSG00000126746. [Q8TF68-2]
Ensembl; ENST00000355772; ENSP00000348018; ENSG00000126746. [Q8TF68-3]
Ensembl; ENST00000361959; ENSP00000354592; ENSG00000126746. [Q8TF68-1]
Ensembl; ENST00000396801; ENSP00000380019; ENSG00000126746. [Q8TF68-1]
GeneID; 171017; -.
KEGG; hsa:171017; -.
UCSC; uc001qqa.4; human. [Q8TF68-1]
CTD; 171017; -.
DisGeNET; 171017; -.
EuPathDB; HostDB:ENSG00000126746.17; -.
GeneCards; ZNF384; -.
HGNC; HGNC:11955; ZNF384.
HPA; HPA004051; -.
MIM; 609951; gene.
neXtProt; NX_Q8TF68; -.
OpenTargets; ENSG00000126746; -.
PharmGKB; PA36644; -.
eggNOG; KOG1721; Eukaryota.
eggNOG; COG5048; LUCA.
GeneTree; ENSGT00900000140926; -.
HOGENOM; HOG000233753; -.
HOVERGEN; HBG058173; -.
InParanoid; Q8TF68; -.
OMA; IHAKSHT; -.
OrthoDB; EOG091G05IN; -.
PhylomeDB; Q8TF68; -.
TreeFam; TF336115; -.
ChiTaRS; ZNF384; human.
GeneWiki; ZNF384; -.
GenomeRNAi; 171017; -.
PRO; PR:Q8TF68; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000126746; -.
CleanEx; HS_ZNF384; -.
ExpressionAtlas; Q8TF68; baseline and differential.
Genevisible; Q8TF68; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
Gene3D; 2.130.10.10; -; 1.
Gene3D; 3.30.40.10; -; 1.
InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
InterPro; IPR036236; Znf_C2H2_sf.
InterPro; IPR013087; Znf_C2H2_type.
InterPro; IPR013083; Znf_RING/FYVE/PHD.
SMART; SM00355; ZnF_C2H2; 8.
SUPFAM; SSF57667; SSF57667; 5.
PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
1: Evidence at protein level;
Alternative splicing; Complete proteome; DNA-binding; Metal-binding;
Nucleus; Phosphoprotein; Reference proteome; Repeat; Transcription;
Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 577 Zinc finger protein 384.
/FTId=PRO_0000047552.
ZN_FING 228 250 C2H2-type 1. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 256 278 C2H2-type 2. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 284 306 C2H2-type 3. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 317 339 C2H2-type 4. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 345 367 C2H2-type 5. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 373 397 C2H2-type 6. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 403 425 C2H2-type 7. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 433 455 C2H2-type 8. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
COMPBIAS 461 521 Gln-rich.
COMPBIAS 466 499 Ala-rich.
MOD_RES 214 214 Phosphoserine.
{ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:20068231}.
VAR_SEQ 102 156 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_040314.
VAR_SEQ 293 353 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_040315.
VAR_SEQ 300 360 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_006920.
CONFLICT 501 501 Missing (in Ref. 1; BAB85125, 2;
BAC04618, 4; EAW88756, 5; AAH53361 and 6;
AAB91437). {ECO:0000305}.
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


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