LOCUS       NM_001385781            3235 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens zinc finger protein 384 (ZNF384), transcript variant
            45, mRNA.
ACCESSION   NM_001385781
VERSION     NM_001385781.1
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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 3235)
  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 :: SRR14038192.3677751.1,
                                           SRR14038196.2679776.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-382               AC125494.2         109040-109421
            383-442             AC125494.2         110189-110248
            443-513             AC125494.2         118890-118960
            514-751             AC125494.2         119232-119469
            752-799             AC125494.2         119705-119752
            800-1133            AC125494.2         119955-120288
            1134-1358           AC125494.2         124975-125199
            1359-1437           AC125494.2         127577-127655
            1438-1596           AC125494.2         129226-129384
            1597-3235           AC125494.2         130300-131938
FEATURES             Location/Qualifiers
     source          1..3235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3235
                     /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..382
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            383..442
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            443..513
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             448..1998
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="isoform a is encoded by transcript variant 45;
                     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 a"
                     /protein_id="NP_001372710.1"
                     /db_xref="CCDS:CCDS8557.1"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
                     /translation="MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGL
                     APPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMTAG
                     VSCSQRWRREGSQSRGPGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQV
                     VPDLSKKVASTLTEEGGGGGGGGGSVAPKPPRGRKKKRMLESGLPEMNDPYVLSPEDD
                     DDHQKDGKTYRCRMCSLTFYSKSEMQIHSKSHTETKPHKCPHCSKTFANSSYLAQHIR
                     IHSGAKPYSCNFCEKSFRQLSHLQQHTRIHTGDRPYKCAHPGCEKAFTQLSNLQSHRR
                     QHNKDKPFKCHNCHRAYTDAASLEVHLSTHTVKHAKVYTCTICSRAYTSETYLMKHMR
                     KHNPPDLQQQVQAAAAAAAVAQAQAQAQAQAQAQAQAQAQAQASQASQQQQQQQQQQQ
                     QQQQQPPPHFQSPGAAPQGGGGGDSNPNPPPQCSFDLTPYKTAEHHKDICLTVTTSTI
                     QVEHLASS"
     exon            514..751
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            752..799
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            800..1133
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1358
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1437
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1596
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..3235
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2952..2957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: TATAAA"
     polyA_site      2982
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
     regulatory      3216..3221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: AATAAA"
     polyA_site      3235
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
ORIGIN      
        1 acttccgggt gagtgcaagg ggagggcagc aaggaggggg ggccacccac tacctcgcgc
       61 ccccgccctg cgggtgtctc gcgcgcgttc cgtgcgtgtg agtgtgtggg tctgtctcgc
      121 tccagaagtg cgtgcccgcg cgctgcgcct tgcgcttttt cccctccctc gccccttcct
      181 ggtcctccca ccctcctcgg ctccctcctt tcccagcaaa cgccgcccct cccgcgccct
      241 ggctcaggct ctggcgccgc cgcagccgtc gccgcccggt gagtctcgcg ccgctacagc
      301 cggcgcgcgc caagctgctt gctcctcccc cctccccttt tccttgggca ggcggggaag
      361 ggggggtcca cgatgtgact gtaaagttca ggagccctgg aaaggagaag gaataagacg
      421 gcaggaggaa gagagagaga gggtagaatg gaagaatctc acttcaattc taacccgtac
      481 ttctggcctt ctatccccac agtctcaggt cagatcgaga acacaatgtt catcaacaag
      541 atgaaggatc agctgttgcc agagaagggc tgtggtctgg ccccacctca ctaccccacc
      601 ttgctgacag tgcctgcctc agtgtccctg ccctcaggca tcagtatgga cacagagtcc
      661 aagtcagacc agctgacccc acacagccaa gcgtccgtta cccagaatat cacggtggtc
      721 cctgtgccgt ctacaggact gatgactgct ggagtctcct gttctcagag gtggagaaga
      781 gaagggagtc aatcaagggg tccgggtttg gtaatcacgt ccccctcagg ctctcttgtg
      841 accacagcat catcagctca gaccttcccc atttcggctc ccatgattgt ctcagctctt
      901 ccccctggct cacaagccct gcaggttgtc cctgacctct ccaagaaggt agcatcgacc
      961 ctaaccgagg aaggaggcgg aggtggtggt ggaggtggca gtgtggctcc taagccaccc
     1021 cggggccgga agaagaagcg gatgctggaa tcagggctgc ccgagatgaa tgacccttat
     1081 gtcctctccc ctgaggatga tgatgaccat cagaaagacg gcaagaccta caggtgccgg
     1141 atgtgctcac tgacattcta ctccaagtcg gagatgcaga tccactccaa gtcacacacc
     1201 gagaccaagc cccacaagtg cccacattgc tccaagacct tcgccaacag ctcctacctg
     1261 gcccagcaca tccgtataca ctcaggggct aagccctaca gttgtaactt ctgtgagaaa
     1321 tccttccgcc agctctccca ccttcagcag cacacccgaa tccacactgg tgatagacca
     1381 tacaaatgtg cacacccagg ctgtgagaaa gccttcacac aactctccaa tctgcagtcc
     1441 cacagacggc aacacaacaa agataaaccc ttcaagtgcc acaactgtca tcgggcgtac
     1501 acggatgcag cctcactaga ggtgcacctg tctacgcaca cagtgaagca tgccaaggtg
     1561 tacacctgca ctatctgcag tcgggcatac acatcagaaa cataccttat gaaacatatg
     1621 cgcaaacaca acccgcctga tcttcagcaa caggtgcagg cagcagcagc agcggcagca
     1681 gtggcccagg cccaggctca agctcaagcc caggctcagg ctcaggctca agcccaggcc
     1741 caggcccagg cctcccaggc atcacagcag cagcagcagc agcagcagca gcagcagcag
     1801 cagcagcaac agccaccacc acacttccag tctcctgggg cagcccccca gggtgggggt
     1861 ggtggggaca gcaatcccaa ccctccaccc cagtgttcct ttgacctgac cccgtataag
     1921 acggcggagc atcataagga catctgcctc actgtcacca ccagcaccat ccaggtggag
     1981 cacctggcca gctcttagag atccgtgctg ccacccactg ggaagaggaa gaagtagtcc
     2041 tggtgtcttc tttctccaac tcttggtggg aaaagtcctt ttcttccttg acaggccttg
     2101 gctccatctc cttgggcctc tgtcacggct ttccttcaca ggataccatc ctttttctga
     2161 actcttcttc aaaaggaaca tcagccctcc tgattgcaaa ggaatactga gctgatggtg
     2221 tcatccagca gcctcccctc ccaagcaaag cttctaaaac tgggggtcgg tgctcaaggg
     2281 aaggatttgc tatgacctca tagaaccttg tccagtgtgg ccacttaccc tatccttacc
     2341 ctccttatcc tcaaagtttg ggctgatgta agactagagg ctggccctcc cagataacag
     2401 agaaaaggga gccccaaatg caaccagcct cttgttctat tcttgcctgc aaaagaacag
     2461 aggtttctca aatgcctcag tccctgagag ccatttcttc ccctacatcg tctcactttg
     2521 cttcctattg actgctggta gaaggagatt tggggtaggg gctagacctc cttttatttg
     2581 aagggggcaa gggctgagat gtggtcccca aggggccaga aattcccaag ttggtcacag
     2641 gtggcttaga agtgtgtgtt atggttttac ggatttcctt gaagcctctc tccttctctg
     2701 cctacaaaga ccctatactc tcagtctccc caacccaccc ccaaggagct gtgggaggct
     2761 ttgtgttatc tgtgaaactc caaaacaggg gtgttgcgga gaagggagag ttcaaggcaa
     2821 acgcaaggac tggacttagc tccctaggtg ccacagtcag atgccggaca cggatttata
     2881 tataaatata tatatataaa tatattatac tcactcatca cggccatctt tgttgtaacc
     2941 atttctgtgt ttataaatgc attatctctg agaattttca tatttgatgt tttgtttatt
     3001 tttgtccttt ttttccctct ctccacccct gtcctctagc cacagcattt ttctttttgt
     3061 cttttttttt tttttttaaa tcatggcaga tttcagagga aaggaaatta aaaaaaaaat
     3121 caggaaacca gttgttataa agtaatttaa aaatgaagaa aaaaagaaaa aaacttatgt
     3181 acaaaccaag gggtgttttt agaacattgt atagaaataa attcatgtaa aagga
//
