LOCUS       NM_001385766            3151 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens zinc finger protein 384 (ZNF384), transcript variant
            30, mRNA.
ACCESSION   NM_001385766
VERSION     NM_001385766.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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  (bases 1 to 3151)
  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 (bases 1 to 3151)
  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.
            
            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 :: SRR14038193.2460576.1,
                                           SRR14038196.700535.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-205               AC125494.2         108843-109047
            206-265             AC125494.2         110189-110248
            266-336             AC125494.2         118890-118960
            337-574             AC125494.2         119232-119469
            575-622             AC125494.2         119705-119752
            623-956             AC125494.2         119955-120288
            957-1049            AC125494.2         121156-121248
            1050-1274           AC125494.2         124975-125199
            1275-1353           AC125494.2         127577-127655
            1354-1512           AC125494.2         129226-129384
            1513-3151           AC125494.2         130300-131938
FEATURES             Location/Qualifiers
     source          1..3151
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3151
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="zinc finger protein 384"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
     exon            1..205
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            206..265
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            266..336
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             271..1914
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="isoform i is encoded by transcript variant 30;
                     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"
                     /codon_start=1
                     /product="zinc finger protein 384 isoform i"
                     /protein_id="NP_001372695.1"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
                     /translation="MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGL
                     APPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMTAG
                     VSCSQRWRREGSQSRGPGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQV
                     VPDLSKKVASTLTEEGGGGGGGGGSVAPKPPRGRKKKRMLESGLPEMNDPYVLSPEDD
                     DDHQKDGKTYRSEGNCGTGNGQSLGLMDSVPGSTTNLLCDPGCRMCSLTFYSKSEMQI
                     HSKSHTETKPHKCPHCSKTFANSSYLAQHIRIHSGAKPYSCNFCEKSFRQLSHLQQHT
                     RIHTGDRPYKCAHPGCEKAFTQLSNLQSHRRQHNKDKPFKCHNCHRAYTDAASLEVHL
                     STHTVKHAKVYTCTICSRAYTSETYLMKHMRKHNPPDLQQQVQAAAAAAAVAQAQAQA
                     QAQAQAQAQAQAQAQASQASQQQQQQQQQQQQQQQQPPPHFQSPGAAPQGGGGGDSNP
                     NPPPQCSFDLTPYKTAEHHKDICLTVTTSTIQVEHLASS"
     exon            337..574
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            575..622
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            623..956
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1049
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1274
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1353
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1512
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..3151
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2868..2873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: TATAAA"
     polyA_site      2898
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
     regulatory      3132..3137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: AATAAA"
     polyA_site      3151
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
ORIGIN      
        1 actcccggaa gtgactcggc ttctgcacgc ccctctttct ccattagcgc cccccctaca
       61 ttgctatttc cctccctccc cccttttcgt ttccggcgct cccgccttct ctccgcagag
      121 ctcttctctg agcctgttgg ggggagggag gggggcgtgg aggaactggg gttcgcggga
      181 gcacgagctg cagcaccact tccggaaagt tcaggagccc tggaaaggag aaggaataag
      241 acggcaggag gaagagagag agagggtaga atggaagaat ctcacttcaa ttctaacccg
      301 tacttctggc cttctatccc cacagtctca ggtcagatcg agaacacaat gttcatcaac
      361 aagatgaagg atcagctgtt gccagagaag ggctgtggtc tggccccacc tcactacccc
      421 accttgctga cagtgcctgc ctcagtgtcc ctgccctcag gcatcagtat ggacacagag
      481 tccaagtcag accagctgac cccacacagc caagcgtccg ttacccagaa tatcacggtg
      541 gtccctgtgc cgtctacagg actgatgact gctggagtct cctgttctca gaggtggaga
      601 agagaaggga gtcaatcaag gggtccgggt ttggtaatca cgtccccctc aggctctctt
      661 gtgaccacag catcatcagc tcagaccttc cccatttcgg ctcccatgat tgtctcagct
      721 cttccccctg gctcacaagc cctgcaggtt gtccctgacc tctccaagaa ggtagcatcg
      781 accctaaccg aggaaggagg cggaggtggt ggtggaggtg gcagtgtggc tcctaagcca
      841 ccccggggcc ggaagaagaa gcggatgctg gaatcagggc tgcccgagat gaatgaccct
      901 tatgtcctct cccctgagga tgatgatgac catcagaaag acggcaagac ctacaggagc
      961 gaagggaact gcggcacagg aaatggacag agccttgggc tcatggattc agttcccggc
     1021 tccaccacga atttgctgtg tgaccctggg tgccggatgt gctcactgac attctactcc
     1081 aagtcggaga tgcagatcca ctccaagtca cacaccgaga ccaagcccca caagtgccca
     1141 cattgctcca agaccttcgc caacagctcc tacctggccc agcacatccg tatacactca
     1201 ggggctaagc cctacagttg taacttctgt gagaaatcct tccgccagct ctcccacctt
     1261 cagcagcaca cccgaatcca cactggtgat agaccataca aatgtgcaca cccaggctgt
     1321 gagaaagcct tcacacaact ctccaatctg cagtcccaca gacggcaaca caacaaagat
     1381 aaacccttca agtgccacaa ctgtcatcgg gcgtacacgg atgcagcctc actagaggtg
     1441 cacctgtcta cgcacacagt gaagcatgcc aaggtgtaca cctgcactat ctgcagtcgg
     1501 gcatacacat cagaaacata ccttatgaaa catatgcgca aacacaaccc gcctgatctt
     1561 cagcaacagg tgcaggcagc agcagcagcg gcagcagtgg cccaggccca ggctcaagct
     1621 caagcccagg ctcaggctca ggctcaagcc caggcccagg cccaggcctc ccaggcatca
     1681 cagcagcagc agcagcagca gcagcagcag cagcagcagc agcaacagcc accaccacac
     1741 ttccagtctc ctggggcagc cccccagggt gggggtggtg gggacagcaa tcccaaccct
     1801 ccaccccagt gttcctttga cctgaccccg tataagacgg cggagcatca taaggacatc
     1861 tgcctcactg tcaccaccag caccatccag gtggagcacc tggccagctc ttagagatcc
     1921 gtgctgccac ccactgggaa gaggaagaag tagtcctggt gtcttctttc tccaactctt
     1981 ggtgggaaaa gtccttttct tccttgacag gccttggctc catctccttg ggcctctgtc
     2041 acggctttcc ttcacaggat accatccttt ttctgaactc ttcttcaaaa ggaacatcag
     2101 ccctcctgat tgcaaaggaa tactgagctg atggtgtcat ccagcagcct cccctcccaa
     2161 gcaaagcttc taaaactggg ggtcggtgct caagggaagg atttgctatg acctcataga
     2221 accttgtcca gtgtggccac ttaccctatc cttaccctcc ttatcctcaa agtttgggct
     2281 gatgtaagac tagaggctgg ccctcccaga taacagagaa aagggagccc caaatgcaac
     2341 cagcctcttg ttctattctt gcctgcaaaa gaacagaggt ttctcaaatg cctcagtccc
     2401 tgagagccat ttcttcccct acatcgtctc actttgcttc ctattgactg ctggtagaag
     2461 gagatttggg gtaggggcta gacctccttt tatttgaagg gggcaagggc tgagatgtgg
     2521 tccccaaggg gccagaaatt cccaagttgg tcacaggtgg cttagaagtg tgtgttatgg
     2581 ttttacggat ttccttgaag cctctctcct tctctgccta caaagaccct atactctcag
     2641 tctccccaac ccacccccaa ggagctgtgg gaggctttgt gttatctgtg aaactccaaa
     2701 acaggggtgt tgcggagaag ggagagttca aggcaaacgc aaggactgga cttagctccc
     2761 taggtgccac agtcagatgc cggacacgga tttatatata aatatatata tataaatata
     2821 ttatactcac tcatcacggc catctttgtt gtaaccattt ctgtgtttat aaatgcatta
     2881 tctctgagaa ttttcatatt tgatgttttg tttatttttg tccttttttt ccctctctcc
     2941 acccctgtcc tctagccaca gcatttttct ttttgtcttt tttttttttt tttaaatcat
     3001 ggcagatttc agaggaaagg aaattaaaaa aaaaatcagg aaaccagttg ttataaagta
     3061 atttaaaaat gaagaaaaaa agaaaaaaac ttatgtacaa accaaggggt gtttttagaa
     3121 cattgtatag aaataaattc atgtaaaagg a
//
