LOCUS       NP_001372674             608 aa            linear   PRI 30-APR-2025
DEFINITION  zinc finger protein 384 isoform e [Homo sapiens].
ACCESSION   NP_001372674 XP_011519222
VERSION     NP_001372674.1
DBSOURCE    REFSEQ: accession NM_001385745.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 608)
  AUTHORS   Yamada,C., Okada,K., Odaira,K., Tokoro,M., Iwamoto,E., Sanada,M.,
            Noura,M., Okamoto,S., Yasuda,T., Tsuzuki,S., Kiyoi,H. and
            Hayakawa,F.
  TITLE     RGS1 and CREB5 are direct and common transcriptional targets of
            ZNF384-fusion proteins
  JOURNAL   Cancer Med 13 (14), e7471 (2024)
   PUBMED   39015025
  REMARK    GeneRIF: RGS1 and CREB5 are direct and common transcriptional
            targets of ZNF384-fusion proteins.
REFERENCE   2  (residues 1 to 608)
  AUTHORS   Hou,Z., Ren,Y., Zhang,X., Huang,D., Yan,F., Sun,W., Zhang,W.,
            Zhang,Q., Fu,X., Lang,Z., Chu,C., Zou,B., Gao,B., Jin,B., Kang,Z.,
            Liu,Q. and Yan,J.
  TITLE     EP300-ZNF384 transactivates IL3RA to promote the progression of
            B-cell acute lymphoblastic leukemia
  JOURNAL   Cell Commun Signal 22 (1), 211 (2024)
   PUBMED   38566191
  REMARK    GeneRIF: EP300-ZNF384 transactivates IL3RA to promote the
            progression of B-cell acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 608)
  AUTHORS   Yang,J., Yang,S., Cai,J., Chen,H., Sun,L., Wang,J., Hou,G., Gu,S.,
            Ma,J. and Ge,J.
  TITLE     A Transcription Factor ZNF384, Regulated by LINC00265, Activates
            the Expression of IFI30 to Stimulate Malignant Progression in
            Glioma
  JOURNAL   ACS Chem Neurosci 15 (2), 290-299 (2024)
   PUBMED   38141017
  REMARK    GeneRIF: A Transcription Factor ZNF384, Regulated by LINC00265,
            Activates the Expression of IFI30 to Stimulate Malignant
            Progression in Glioma.
REFERENCE   4  (residues 1 to 608)
  AUTHORS   Shi,Z.Y., Wang,X., Chen,W.M., Li,L.D., Hao,Y., Li,J.Y., Sun,K.,
            Zhao,X.S., Jiang,H., Jiang,Q., Huang,X.J. and Qin,Y.Z.
  TITLE     ZNF384 fusion transcript levels for measurable residual disease
            monitoring in adult B-cell acute lymphoblastic leukemia
  JOURNAL   Hematol Oncol 42 (1), e3251 (2024)
   PUBMED   38287528
  REMARK    GeneRIF: ZNF384 fusion transcript levels for measurable residual
            disease monitoring in adult B-cell acute lymphoblastic leukemia.
REFERENCE   5  (residues 1 to 608)
  AUTHORS   Zhong,C.H., Prima,V., Liang,X., Frye,C., McGavran,L., Meltesen,L.,
            Wei,Q., Boomer,T., Varella-Garcia,M., Gump,J. and Hunger,S.P.
  TITLE     E2A-ZNF384 and NOL1-E2A fusion created by a cryptic t(12;19)(p13.3;
            p13.3) in acute leukemia
  JOURNAL   Leukemia 22 (4), 723-729 (2008)
   PUBMED   18185522
REFERENCE   6  (residues 1 to 608)
  AUTHORS   Janssen,H. and Marynen,P.
  TITLE     Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator
            for p130CAS signaling?
  JOURNAL   Exp Cell Res 312 (7), 1194-1204 (2006)
   PUBMED   16510139
REFERENCE   7  (residues 1 to 608)
  AUTHORS   La Starza,R., Aventin,A., Crescenzi,B., Gorello,P., Specchia,G.,
            Cuneo,A., Angioni,A., Bilhou-Nabera,C., Boque,C., Foa,R.,
            Uyttebroeck,A., Talmant,P., Cimino,G., Martelli,M.F., Marynen,P.,
            Mecucci,C. and Hagemeijer,A.
  TITLE     CIZ gene rearrangements in acute leukemia: report of a diagnostic
            FISH assay and clinical features of nine patients
  JOURNAL   Leukemia 19 (9), 1696-1699 (2005)
   PUBMED   15990865
  REMARK    GeneRIF: The CIZ protein(also known as ZNF384)was involved and
            rearrangemented in acute leukemia.
REFERENCE   8  (residues 1 to 608)
  AUTHORS   Martini,A., La Starza,R., Janssen,H., Bilhou-Nabera,C.,
            Corveleyn,A., Somers,R., Aventin,A., Foa,R., Hagemeijer,A.,
            Mecucci,C. and Marynen,P.
  TITLE     Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its
            homologue, TAF15, with the transcription factor CIZ/NMP4 in acute
            leukemia
  JOURNAL   Cancer Res 62 (19), 5408-5412 (2002)
   PUBMED   12359745
  REMARK    GeneRIF: The transcription factor gene CIZ/NMP4 is recurrently
            involved in acute leukemia through fusion with either EWSR1 or
            TAF15.
REFERENCE   9  (residues 1 to 608)
  AUTHORS   Thunyakitpisal,P., Alvarez,M., Tokunaga,K., Onyia,J.E., Hock,J.,
            Ohashi,N., Feister,H., Rhodes,S.J. and Bidwell,J.P.
  TITLE     Cloning and functional analysis of a family of nuclear matrix
            transcription factors (NP/NMP4) that regulate type I collagen
            expression in osteoblasts
  JOURNAL   J Bone Miner Res 16 (1), 10-23 (2001)
   PUBMED   11149472
REFERENCE   10 (residues 1 to 608)
  AUTHORS   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. and Ross,C.A.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC125494.2.
            
            On Jul 28, 2020 this sequence version replaced XP_011519222.1.
            
            Summary: This gene encodes a C2H2-type zinc finger protein, which
            may function as a transcription factor. This gene also contains
            long CAG trinucleotide repeats that encode consecutive glutamine
            residues. The protein appears to bind and regulate the promoters of
            the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies
            in mouse suggest that nuclear matrix transcription factors
            (NP/NMP4) may be part of a general mechanical pathway that couples
            cell construction and function during extracellular matrix
            remodeling. Alternative splicing results in multiple transcript
            variants. Recurrent rearrangements of this gene with the Ewing's
            sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on
            chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have
            been observed in acute leukemia. A related pseudogene has been
            identified on chromosome 7. [provided by RefSeq, Apr 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2312263.1,
                                           SRR14038194.4196255.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683879.1/ ENSP00000507462.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..608
                     /product="zinc finger protein 384 isoform e"
                     /note="Cas-interacting zinc finger protein; nuclear matrix
                     transcription factor 4; expanded repeat domain, CAG/CTG 2;
                     CAG repeat protein 1; trinucleotide repeat-containing gene
                     1 protein"
                     /calculated_mol_wt=66052
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <284..486
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          350..370
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(355,357,359,361..362,365..366,369,383,385,389..390,
                     393..394,397,413,415,417,419..420,423..424,427)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          378..398
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          406..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          436..456
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          466..486
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..608
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /coded_by="NM_001385745.1:344..2170"
                     /note="isoform e is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS91645.1"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
ORIGIN      
        1 meeshfnsnp yfwpsiptvs gqientmfin kmkdqllpek gcglapphyp tlltvpasvs
       61 lpsgismdte sksdqltphs qasvtqnitv vpvpstglmt agvscsqrwr regsqsrgpg
      121 lvitspsgsl vttassaqtf pisapmivsa lppgsqalqv vpdlskkvas tlteeggggg
      181 ggggsvapkp prgrkkkrml esglpemndp yvlspedddd hqkdgktyrs egncgtgngq
      241 slglmdsvpg sttnllcdpg crmcsltfys ksemqihsks htetkphkcp hcsktfanss
      301 ylaqhirihs gakpyscnfc eksfrqlshl qqhtrihskm htetikphkc phcsktfant
      361 sylaqhlrih sgakpyncsy cqkafrqlsh lqqhtrihtg drpykcahpg cekaftqlsn
      421 lqshrrqhnk dkpfkchnch raytdaasle vhlsthtvkh akvytctics raytsetylm
      481 khmrkhnppd lqqqvqaaaa aaavaqaqaq aqaqaqaqaq aqaqaqasqa sqqqqqqqqq
      541 qqqqqqqppp hfqspgaapq gggggdsnpn pppqcsfdlt pyktaehhkd icltvttsti
      601 qvehlass
//
