LOCUS       NM_001385777            3127 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens zinc finger protein 384 (ZNF384), transcript variant
            41, mRNA.
ACCESSION   NM_001385777
VERSION     NM_001385777.1
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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 3127)
  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 :: SRR14038197.1261542.1,
                                           SRR14038194.2432707.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-278               AC125494.2         109040-109317
            279-338             AC125494.2         110189-110248
            339-405             AC125494.2         118894-118960
            406-643             AC125494.2         119232-119469
            644-691             AC125494.2         119705-119752
            692-1025            AC125494.2         119955-120288
            1026-1250           AC125494.2         124975-125199
            1251-1329           AC125494.2         127577-127655
            1330-1488           AC125494.2         129226-129384
            1489-3127           AC125494.2         130300-131938
FEATURES             Location/Qualifiers
     source          1..3127
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3127
                     /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..278
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            279..338
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            339..405
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             340..1890
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="isoform a is encoded by transcript variant 41;
                     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_001372706.1"
                     /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            406..643
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            644..691
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..1025
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1250
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1329
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1488
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..3127
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2844..2849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: TATAAA"
     polyA_site      2874
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
     regulatory      3108..3113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: AATAAA"
     polyA_site      3127
                     /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 gccgcccgaa agttcaggag ccctggaaag
      301 gagaaggaat aagacggcag gaggaagaga gagagaggaa tggaagaatc tcacttcaat
      361 tctaacccgt acttctggcc ttctatcccc acagtctcag gtcagatcga gaacacaatg
      421 ttcatcaaca agatgaagga tcagctgttg ccagagaagg gctgtggtct ggccccacct
      481 cactacccca ccttgctgac agtgcctgcc tcagtgtccc tgccctcagg catcagtatg
      541 gacacagagt ccaagtcaga ccagctgacc ccacacagcc aagcgtccgt tacccagaat
      601 atcacggtgg tccctgtgcc gtctacagga ctgatgactg ctggagtctc ctgttctcag
      661 aggtggagaa gagaagggag tcaatcaagg ggtccgggtt tggtaatcac gtccccctca
      721 ggctctcttg tgaccacagc atcatcagct cagaccttcc ccatttcggc tcccatgatt
      781 gtctcagctc ttccccctgg ctcacaagcc ctgcaggttg tccctgacct ctccaagaag
      841 gtagcatcga ccctaaccga ggaaggaggc ggaggtggtg gtggaggtgg cagtgtggct
      901 cctaagccac cccggggccg gaagaagaag cggatgctgg aatcagggct gcccgagatg
      961 aatgaccctt atgtcctctc ccctgaggat gatgatgacc atcagaaaga cggcaagacc
     1021 tacaggtgcc ggatgtgctc actgacattc tactccaagt cggagatgca gatccactcc
     1081 aagtcacaca ccgagaccaa gccccacaag tgcccacatt gctccaagac cttcgccaac
     1141 agctcctacc tggcccagca catccgtata cactcagggg ctaagcccta cagttgtaac
     1201 ttctgtgaga aatccttccg ccagctctcc caccttcagc agcacacccg aatccacact
     1261 ggtgatagac catacaaatg tgcacaccca ggctgtgaga aagccttcac acaactctcc
     1321 aatctgcagt cccacagacg gcaacacaac aaagataaac ccttcaagtg ccacaactgt
     1381 catcgggcgt acacggatgc agcctcacta gaggtgcacc tgtctacgca cacagtgaag
     1441 catgccaagg tgtacacctg cactatctgc agtcgggcat acacatcaga aacatacctt
     1501 atgaaacata tgcgcaaaca caacccgcct gatcttcagc aacaggtgca ggcagcagca
     1561 gcagcggcag cagtggccca ggcccaggct caagctcaag cccaggctca ggctcaggct
     1621 caagcccagg cccaggccca ggcctcccag gcatcacagc agcagcagca gcagcagcag
     1681 cagcagcagc agcagcagca acagccacca ccacacttcc agtctcctgg ggcagccccc
     1741 cagggtgggg gtggtgggga cagcaatccc aaccctccac cccagtgttc ctttgacctg
     1801 accccgtata agacggcgga gcatcataag gacatctgcc tcactgtcac caccagcacc
     1861 atccaggtgg agcacctggc cagctcttag agatccgtgc tgccacccac tgggaagagg
     1921 aagaagtagt cctggtgtct tctttctcca actcttggtg ggaaaagtcc ttttcttcct
     1981 tgacaggcct tggctccatc tccttgggcc tctgtcacgg ctttccttca caggatacca
     2041 tcctttttct gaactcttct tcaaaaggaa catcagccct cctgattgca aaggaatact
     2101 gagctgatgg tgtcatccag cagcctcccc tcccaagcaa agcttctaaa actgggggtc
     2161 ggtgctcaag ggaaggattt gctatgacct catagaacct tgtccagtgt ggccacttac
     2221 cctatcctta ccctccttat cctcaaagtt tgggctgatg taagactaga ggctggccct
     2281 cccagataac agagaaaagg gagccccaaa tgcaaccagc ctcttgttct attcttgcct
     2341 gcaaaagaac agaggtttct caaatgcctc agtccctgag agccatttct tcccctacat
     2401 cgtctcactt tgcttcctat tgactgctgg tagaaggaga tttggggtag gggctagacc
     2461 tccttttatt tgaagggggc aagggctgag atgtggtccc caaggggcca gaaattccca
     2521 agttggtcac aggtggctta gaagtgtgtg ttatggtttt acggatttcc ttgaagcctc
     2581 tctccttctc tgcctacaaa gaccctatac tctcagtctc cccaacccac ccccaaggag
     2641 ctgtgggagg ctttgtgtta tctgtgaaac tccaaaacag gggtgttgcg gagaagggag
     2701 agttcaaggc aaacgcaagg actggactta gctccctagg tgccacagtc agatgccgga
     2761 cacggattta tatataaata tatatatata aatatattat actcactcat cacggccatc
     2821 tttgttgtaa ccatttctgt gtttataaat gcattatctc tgagaatttt catatttgat
     2881 gttttgttta tttttgtcct ttttttccct ctctccaccc ctgtcctcta gccacagcat
     2941 ttttcttttt gtcttttttt ttttttttta aatcatggca gatttcagag gaaaggaaat
     3001 taaaaaaaaa atcaggaaac cagttgttat aaagtaattt aaaaatgaag aaaaaaagaa
     3061 aaaaacttat gtacaaacca aggggtgttt ttagaacatt gtatagaaat aaattcatgt
     3121 aaaagga
//
