LOCUS       NM_001385793            3237 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens zinc finger protein 384 (ZNF384), transcript variant
            57, mRNA.
ACCESSION   NM_001385793
VERSION     NM_001385793.1
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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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 3237)
  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##
            CDS exon combination :: SRR1803615.140552.1, SRR1660805.116145.1
                                    [ECO:0000331]
            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
            339-492             AC125494.2         116290-116443
            493-563             AC125494.2         118890-118960
            564-801             AC125494.2         119232-119469
            802-1135            AC125494.2         119955-120288
            1136-1360           AC125494.2         124975-125199
            1361-1439           AC125494.2         127577-127655
            1440-1598           AC125494.2         129226-129384
            1599-3237           AC125494.2         130300-131938
FEATURES             Location/Qualifiers
     source          1..3237
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3237
                     /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..492
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..563
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             498..2000
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="isoform b is encoded by transcript variant 57;
                     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 b"
                     /protein_id="NP_001372722.1"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
                     /translation="MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGL
                     APPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMTAG
                     PGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQVVPDLSKKVASTLTEEG
                     GGGGGGGGSVAPKPPRGRKKKRMLESGLPEMNDPYVLSPEDDDDHQKDGKTYRCRMCS
                     LTFYSKSEMQIHSKSHTETKPHKCPHCSKTFANSSYLAQHIRIHSGAKPYSCNFCEKS
                     FRQLSHLQQHTRIHTGDRPYKCAHPGCEKAFTQLSNLQSHRRQHNKDKPFKCHNCHRA
                     YTDAASLEVHLSTHTVKHAKVYTCTICSRAYTSETYLMKHMRKHNPPDLQQQVQAAAA
                     AAAVAQAQAQAQAQAQAQAQAQAQAQASQASQQQQQQQQQQQQQQQQPPPHFQSPGAA
                     PQGGGGGDSNPNPPPQCSFDLTPYKTAEHHKDICLTVTTSTIQVEHLASS"
     exon            564..801
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            802..1135
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1360
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1439
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1598
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..3237
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2954..2959
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: TATAAA"
     polyA_site      2984
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="major polyA site"
     regulatory      3218..3223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /note="hexamer: AATAAA"
     polyA_site      3237
                     /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 gagagaggag acacggtctc aaatatattg
      361 cttagcctgg tctcaaactc cagacctcaa gtgatcctcc tgcgtaggcc tgccaaagtg
      421 ttgagattac aagcatgagc caccacactc agccgtaaga cccctttgta aagctatggc
      481 tggaaggacc aagtagaatg gaagaatctc acttcaattc taacccgtac ttctggcctt
      541 ctatccccac agtctcaggt cagatcgaga acacaatgtt catcaacaag atgaaggatc
      601 agctgttgcc agagaagggc tgtggtctgg ccccacctca ctaccccacc ttgctgacag
      661 tgcctgcctc agtgtccctg ccctcaggca tcagtatgga cacagagtcc aagtcagacc
      721 agctgacccc acacagccaa gcgtccgtta cccagaatat cacggtggtc cctgtgccgt
      781 ctacaggact gatgactgct ggtccgggtt tggtaatcac gtccccctca ggctctcttg
      841 tgaccacagc atcatcagct cagaccttcc ccatttcggc tcccatgatt gtctcagctc
      901 ttccccctgg ctcacaagcc ctgcaggttg tccctgacct ctccaagaag gtagcatcga
      961 ccctaaccga ggaaggaggc ggaggtggtg gtggaggtgg cagtgtggct cctaagccac
     1021 cccggggccg gaagaagaag cggatgctgg aatcagggct gcccgagatg aatgaccctt
     1081 atgtcctctc ccctgaggat gatgatgacc atcagaaaga cggcaagacc tacaggtgcc
     1141 ggatgtgctc actgacattc tactccaagt cggagatgca gatccactcc aagtcacaca
     1201 ccgagaccaa gccccacaag tgcccacatt gctccaagac cttcgccaac agctcctacc
     1261 tggcccagca catccgtata cactcagggg ctaagcccta cagttgtaac ttctgtgaga
     1321 aatccttccg ccagctctcc caccttcagc agcacacccg aatccacact ggtgatagac
     1381 catacaaatg tgcacaccca ggctgtgaga aagccttcac acaactctcc aatctgcagt
     1441 cccacagacg gcaacacaac aaagataaac ccttcaagtg ccacaactgt catcgggcgt
     1501 acacggatgc agcctcacta gaggtgcacc tgtctacgca cacagtgaag catgccaagg
     1561 tgtacacctg cactatctgc agtcgggcat acacatcaga aacatacctt atgaaacata
     1621 tgcgcaaaca caacccgcct gatcttcagc aacaggtgca ggcagcagca gcagcggcag
     1681 cagtggccca ggcccaggct caagctcaag cccaggctca ggctcaggct caagcccagg
     1741 cccaggccca ggcctcccag gcatcacagc agcagcagca gcagcagcag cagcagcagc
     1801 agcagcagca acagccacca ccacacttcc agtctcctgg ggcagccccc cagggtgggg
     1861 gtggtgggga cagcaatccc aaccctccac cccagtgttc ctttgacctg accccgtata
     1921 agacggcgga gcatcataag gacatctgcc tcactgtcac caccagcacc atccaggtgg
     1981 agcacctggc cagctcttag agatccgtgc tgccacccac tgggaagagg aagaagtagt
     2041 cctggtgtct tctttctcca actcttggtg ggaaaagtcc ttttcttcct tgacaggcct
     2101 tggctccatc tccttgggcc tctgtcacgg ctttccttca caggatacca tcctttttct
     2161 gaactcttct tcaaaaggaa catcagccct cctgattgca aaggaatact gagctgatgg
     2221 tgtcatccag cagcctcccc tcccaagcaa agcttctaaa actgggggtc ggtgctcaag
     2281 ggaaggattt gctatgacct catagaacct tgtccagtgt ggccacttac cctatcctta
     2341 ccctccttat cctcaaagtt tgggctgatg taagactaga ggctggccct cccagataac
     2401 agagaaaagg gagccccaaa tgcaaccagc ctcttgttct attcttgcct gcaaaagaac
     2461 agaggtttct caaatgcctc agtccctgag agccatttct tcccctacat cgtctcactt
     2521 tgcttcctat tgactgctgg tagaaggaga tttggggtag gggctagacc tccttttatt
     2581 tgaagggggc aagggctgag atgtggtccc caaggggcca gaaattccca agttggtcac
     2641 aggtggctta gaagtgtgtg ttatggtttt acggatttcc ttgaagcctc tctccttctc
     2701 tgcctacaaa gaccctatac tctcagtctc cccaacccac ccccaaggag ctgtgggagg
     2761 ctttgtgtta tctgtgaaac tccaaaacag gggtgttgcg gagaagggag agttcaaggc
     2821 aaacgcaagg actggactta gctccctagg tgccacagtc agatgccgga cacggattta
     2881 tatataaata tatatatata aatatattat actcactcat cacggccatc tttgttgtaa
     2941 ccatttctgt gtttataaat gcattatctc tgagaatttt catatttgat gttttgttta
     3001 tttttgtcct ttttttccct ctctccaccc ctgtcctcta gccacagcat ttttcttttt
     3061 gtcttttttt ttttttttta aatcatggca gatttcagag gaaaggaaat taaaaaaaaa
     3121 atcaggaaac cagttgttat aaagtaattt aaaaatgaag aaaaaaagaa aaaaacttat
     3181 gtacaaacca aggggtgttt ttagaacatt gtatagaaat aaattcatgt aaaagga
//
