LOCUS       NM_001349619            5164 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens calmodulin binding transcription activator 1 (CAMTA1),
            transcript variant 15, mRNA.
ACCESSION   NM_001349619
VERSION     NM_001349619.2
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 5164)
  AUTHORS   Al-Kateb,H., Au,P.Y.B., Berland,S., Cogne,B., Demurger,F.,
            Fluss,J., Isidor,B., Frank,L.M., Varvagiannis,K., Koolen,D.A.,
            McDonald,M., Montgomery,S., Moortgat,S., Deprez,M., Karadurmus,D.,
            Paulsen,J., Reis,A., Rieger,M., Vasileiou,G., Willing,M. and
            Shinawi,M.
  TITLE     CAMTA1-related disorder: Phenotypic and molecular characterization
            of 26 new individuals and literature review
  JOURNAL   Clin Genet 105 (3), 294-301 (2024)
   PUBMED   38044714
  REMARK    GeneRIF: CAMTA1-related disorder: Phenotypic and molecular
            characterization of 26 new individuals and literature review.
REFERENCE   2  (bases 1 to 5164)
  AUTHORS   Alves,G., Ornellas,M.H. and Liehr,T.
  TITLE     The role of Calmodulin Binding Transcription Activator 1 (CAMTA1)
            gene and its putative genetic partners in the human nervous system
  JOURNAL   Psychogeriatrics 22 (6), 869-878 (2022)
   PUBMED   35949142
  REMARK    GeneRIF: The role of Calmodulin Binding Transcription Activator 1
            (CAMTA1) gene and its putative genetic partners in the human
            nervous system.
            Review article
REFERENCE   3  (bases 1 to 5164)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 5164)
  AUTHORS   Dzinovic,I., Serranova,T., Prouteau,C., Colin,E., Ziegler,A.,
            Winkelmann,J., Jech,R. and Zech,M.
  TITLE     Myoclonic dystonia phenotype related to a novel calmodulin-binding
            transcription activator 1 sequence variant
  JOURNAL   Neurogenetics 22 (2), 137-141 (2021)
   PUBMED   33677721
  REMARK    GeneRIF: Myoclonic dystonia phenotype related to a novel
            calmodulin-binding transcription activator 1 sequence variant.
            Erratum:[Neurogenetics. 2022 Jan;23(1):77. doi:
            10.1007/s10048-021-00641-w.. PMID: 34859314]
REFERENCE   5  (bases 1 to 5164)
  AUTHORS   Merritt,N., Garcia,K., Rajendran,D., Lin,Z.Y., Zhang,X.,
            Mitchell,K.A., Borcherding,N., Fullenkamp,C., Chimenti,M.S.,
            Gingras,A.C., Harvey,K.F. and Tanas,M.R.
  TITLE     TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by
            recruiting the ATAC histone acetyltransferase complex
  JOURNAL   Elife 10, e62857 (2021)
   PUBMED   33913810
  REMARK    GeneRIF: TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by
            recruiting the ATAC histone acetyltransferase complex.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5164)
  AUTHORS   Henrich,K.O., Claas,A., Praml,C., Benner,A., Mollenhauer,J.,
            Poustka,A., Schwab,M. and Westermann,F.
  TITLE     Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted
            region at 1p36 in neuroblastoma
  JOURNAL   Eur J Cancer 43 (3), 607-616 (2007)
   PUBMED   17222547
  REMARK    GeneRIF: no evidence for somatic mutations in FLJ10737 in
            neuroblastoma
REFERENCE   7  (bases 1 to 5164)
  AUTHORS   Barbashina,V., Salazar,P., Holland,E.C., Rosenblum,M.K. and
            Ladanyi,M.
  TITLE     Allelic losses at 1p36 and 19q13 in gliomas: correlation with
            histologic classification, definition of a 150-kb minimal deleted
            region on 1p36, and evaluation of CAMTA1 as a candidate tumor
            suppressor gene
  JOURNAL   Clin Cancer Res 11 (3), 1119-1128 (2005)
   PUBMED   15709179
REFERENCE   8  (bases 1 to 5164)
  AUTHORS   Nakatani,K., Nishioka,J., Itakura,T., Nakanishi,Y., Horinouchi,J.,
            Abe,Y., Wada,H. and Nobori,T.
  TITLE     Cell cycle-dependent transcriptional regulation of
            calmodulin-binding transcription activator 1 in neuroblastoma cells
  JOURNAL   Int J Oncol 24 (6), 1407-1412 (2004)
   PUBMED   15138581
REFERENCE   9  (bases 1 to 5164)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of FLJ10737 and CAMTA1 genes on
            the commonly deleted region of neuroblastoma at human chromosome
            1p36.31-p36.23
  JOURNAL   Int J Oncol 23 (4), 1219-1224 (2003)
   PUBMED   12964007
  REMARK    GeneRIF: FLJ10737 and CAMTA1 genes on 1p36.31-p36.23 are candidate
            tumor suppressor genes of neuroblastoma
REFERENCE   10 (bases 1 to 5164)
  AUTHORS   Bouche,N., Scharlat,A., Snedden,W., Bouchez,D. and Fromm,H.
  TITLE     A novel family of calmodulin-binding transcription activators in
            multicellular organisms
  JOURNAL   J Biol Chem 277 (24), 21851-21861 (2002)
   PUBMED   11925432
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359881.28, Z98884.11 and
            KF495855.1.
            
            On May 31, 2019 this sequence version replaced NM_001349619.1.
            
            Summary: The protein encoded by this gene contains a CG1
            DNA-binding domain, a transcription factor immunoglobulin domain,
            ankyrin repeats, and calmodulin-binding IQ motifs. The encoded
            protein is thought to be a transcription factor and may be a tumor
            suppressor. However, a translocation event is sometimes observed
            between this gene and the WWTR1 gene, with the resulting
            WWTR1-CAMTA1 oncoprotein leading to epithelioid
            hemangioendothelioma, a malignant vascular cancer. [provided by
            RefSeq, Mar 2017].
            
            Transcript Variant: This variant (15), as well as variant 16,
            encodes isoform l.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803614.92130.1,
                                           SRR1803612.68125.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               AL359881.28        45877-46035
            160-311             Z98884.11          9667-9818
            312-508             Z98884.11          13563-13759
            509-587             Z98884.11          14150-14228
            588-903             Z98884.11          14474-14789
            904-1088            Z98884.11          15517-15701
            1089-1276           Z98884.11          22054-22241
            1277-1523           Z98884.11          23064-23310
            1524-1595           Z98884.11          24929-25000
            1596-1616           Z98884.11          26990-27010
            1617-1810           Z98884.11          28418-28611
            1811-1885           Z98884.11          29678-29752
            1886-1916           Z98884.11          32857-32887
            1917-4474           Z98884.11          43678-46235
            4475-4765           KF495855.1         1-291
            4766-5164           Z98884.11          46527-46925
FEATURES             Location/Qualifiers
     source          1..5164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31-p36.23"
     gene            1..5164
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="calmodulin binding transcription activator 1"
                     /db_xref="GeneID:23261"
                     /db_xref="HGNC:HGNC:18806"
                     /db_xref="MIM:611501"
     exon            1..159
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            160..311
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..1949
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="isoform l is encoded by transcript variant 15"
                     /codon_start=1
                     /product="calmodulin-binding transcription activator 1
                     isoform l"
                     /protein_id="NP_001336548.1"
                     /db_xref="CCDS:CCDS90853.1"
                     /db_xref="GeneID:23261"
                     /db_xref="HGNC:HGNC:18806"
                     /db_xref="MIM:611501"
                     /translation="MSILERLEQMERRMAEMTGSQQHKQASGGGSSGGGSGSGNGGSQ
                     AQCASGTGALGSCFESRVVVVCEKMMSRACWAKSKHLIHSKTFRGMTLLHLAAAQGYA
                     TLIQTLIKWRTKHADSIDLELEVDPLNVDHFSCTPLMWACALGHLEAAVVLYKWDRRA
                     ISIPDSLGRLPLGIARSRGHVKLAECLEHLQRDEQAQLGQNPRIHCPASEEPSTESWM
                     AQWHSEAISSPEIPKGVTVIASTNPVQVTGNPKGTSVGKEAAPSQVRPREPMSVLMMA
                     NREVVNTELGSYRDSAENEECGQPMDDIQVNMMTLAEHIIEATPDRIKQENFVPMESS
                     GLERTDPATISSTMSWLASYLADADCLPSAAQIRSAYNEPLTPSSNTSLSPVGSPVSE
                     IAFEKPNLPSAADWSEFLSASTSEKVENEFAQLTLSDHEQRELYEAARLVQTAFRKYK
                     GRPLREQQEVAAAVIQRCYRKYKQLTWIALKYALYKKMTQAAILIQSKFRSYYEQKKF
                     QQSRRAAVLIQKYYRSYKKCGKRRQARRTAVIVQQKLRSSLLTKKQDQAARKIMRFLR
                     RCRHSPLVDHRLYKRSERIEKGQGT"
     exon            312..508
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            509..587
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            588..903
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1088
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1276
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1523
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..1595
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1616
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1810
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1885
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1886..1916
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..5164
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5138..5143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="hexamer: ATTAAA"
     polyA_site      5164
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="major polyA site"
ORIGIN      
        1 acccggagcc ccgcgagtcg ttccagctgc ggcgagtgga gctgagcggg cgcggggccg
       61 ggctgggccg ggccgggcgg ggccgggcgg ggcgcgggag ccagtgagcg gcggctcggc
      121 gcaagcctga cgagcaggag ccgagctcag caggtccgga taaccagttc aggatgtcca
      181 tcctggaacg actggagcag atggagagga ggatggccga gatgacgggg tcccagcagc
      241 acaaacaggc gagcggaggc ggcagcagtg gaggcggcag cgggagcggg aatggaggga
      301 gccaggcaca gtgtgcttct gggactgggg ccttggggag ctgctttgag agccgtgtgg
      361 tcgtggtatg cgagaagatg atgagccgag cctgctgggc gaagtccaag cacttgatcc
      421 actcaaagac tttccgcgga atgaccctac tccacctggc cgctgcccag ggctatgcca
      481 ccctaatcca gaccctcatc aaatggcgta caaagcacgc ggatagcatt gacctggaac
      541 tggaagttga ccccttgaat gtggaccact tctcctgtac tcctctgatg tgggcgtgtg
      601 ccctagggca cttggaagct gccgtcgtgc tgtacaagtg ggaccgtcgg gccatctcga
      661 ttcccgactc tctaggaagg ctgcctttgg gaattgccag gtcacggggt catgtgaaat
      721 tagcagagtg tctggagcac ctgcagagag atgagcaggc tcagctggga cagaacccca
      781 gaatccactg tcctgcaagc gaagagccca gcacagagag ctggatggcc cagtggcaca
      841 gcgaagccat cagctctcca gaaataccca agggagtcac tgttattgca agcaccaacc
      901 cagtacaggt gactggaaat ccgaagggga ccagtgtagg aaaggaggca gcaccttcac
      961 aggtgcgtcc acgggaacca atgagtgtcc tgatgatggc taacagagag gtggtgaata
     1021 cagagctggg gtcctaccgt gatagtgcag aaaatgaaga atgcggccag cccatggatg
     1081 acatacaggt gaacatgatg accttggcag aacacattat tgaagccaca cctgaccgaa
     1141 tcaagcagga gaattttgtg cccatggagt cctcaggatt ggaaagaaca gaccctgcca
     1201 ccattagcag tacaatgagc tggctggcca gttatctagc ggatgctgac tgccttccca
     1261 gtgctgccca gatccgaagt gcatataacg agcctctaac cccttcttct aataccagct
     1321 tgagccctgt tggctctccc gtcagtgaaa tcgctttcga gaaacctaac cttccctccg
     1381 ccgcggattg gtcagaattc ctgagtgcat ctaccagtga gaaggtagag aatgagtttg
     1441 ctcagctcac tctgtctgat catgaacaga gagaactcta tgaggctgcc aggcttgtcc
     1501 agacagcttt ccggaaatac aagggccgac ccttgcggga acagcaagaa gtagctgctg
     1561 ctgttattca gcgttgttac agaaaatata aacagctgac atggatagcc ttgaagtacg
     1621 cactttataa aaagatgaca caggctgcca tccttatcca gagcaaattc cgaagttact
     1681 atgaacaaaa aaaattccag cagagccgac gggctgctgt gctcatccaa aagtactacc
     1741 gaagttataa gaaatgtggc aaaagacggc aggctcgccg gacggctgtg attgtacaac
     1801 agaaactcag gagcagtttg ctaaccaaaa agcaggatca agctgctcga aaaataatga
     1861 ggtttcttcg ccgctgtcgc cacagccccc tggtggacca taggctgtac aaaaggagtg
     1921 aaagaattga aaaaggccaa ggaacttgaa gacatacagc agcatccctt agcaatgtga
     1981 cattgctttt cagactgttt tcatttctgt ttttagcaga gacatgcaac aacaacacac
     2041 acgcacacac gcacacacac acacgtacac acacatacaa aatccctctg cagttttggg
     2101 gagatcagct gcaggatttt aacaggaatg ttttggtcat tgcatttgca ctttcatgga
     2161 caacttttaa tttgatcagc aagacatctt ggaactcaat cttctgttgg atcacgggaa
     2221 atcaagacac ccaggaggaa ttgaaagagg cttcctcttc tcaggaagaa gccatttcct
     2281 tctcatatag ggctgtattc aaacatcgtg tggaactgta caaatattta taccaaaaat
     2341 atagataaga aaaggtgggg ctatactagc aacaaaaaaa gaatgctgtt cctgcacctg
     2401 ccggttattt ccaagaagct gaatctttgg gactgattct cagtggaggg cttagatcat
     2461 acaaaaatct ttattgggtc cgtgtgttct catttccttc actgtttatt tttgtttgtt
     2521 tgtttgtttg ttttaatctc tacagcacat ttaatgcaac ttttgaaatc tgcaggtttt
     2581 taatgtcttg tggaaatttg cagaggggca ggtgtgtggt aaacgggtaa tgcatgggaa
     2641 ataatgagaa gcagctcaca gagtttaaac tattttcttg tccccaccac cttccaagaa
     2701 cctgcgaggg tagtaatcat cttgtcccct ttttcatgtt cagcacttta atttttttgc
     2761 cttactttca tgtgcaatga gaattactta agaattggta acgcatgtag ccttttttag
     2821 taaccttgga agctgtagta attctaagga atcatgaacc ttgcctggac atttgccacc
     2881 taaacgatca gtgtggtgct gcgttctggc cagtaaattc catgtttttg gctatatctc
     2941 atccaaactg agcagtttct gtgtatatat agaaggtaga aatgaaaagt gagaaaatat
     3001 ttgaaaggga ttatattaat tgctaaatat tttattcaca aaggtcaata acatggcaag
     3061 ataaaattat ttgtatagtt ttgtctgaat gagcgagaaa aatgtggatg tactgtttgt
     3121 atatattgta tatattaaaa cagagatatg tgcatgaaat caagaaaaaa gaaatgaaca
     3181 aaagcaaagc attagtggct atggtctgta aaatgaaaca aaaaaacttt atttcactat
     3241 aagagtactt tattttaaat gttctttagg agaacatttt gctaaagcat gactaaactg
     3301 caaaaaaaaa aaaagagcta ctgtatttag acttaggaaa aaaggcagag taacattact
     3361 taaaaaaaaa aggatatgtt tacatttaat tttggctacc aggagtttag tttattttat
     3421 ttaaaatttt tttgccaatg gtgccaagta atgtgaatgc taatactgct taagaaaatt
     3481 aagttacttt tgcaaaacag ataatcataa gatgaatcag tatgtagctt aacaccatcc
     3541 actcactcca acaaagaaca cttagaatga taaaaaaaaa aaaaaaaaac ctgacaaaag
     3601 aaatagtatg aaaagtagaa aaatgtcacg tttccatatc tcctgctgga aatcagaaaa
     3661 tataataaaa ttgcacaaaa aaaaaaatga aaaagatgca gactggtctt ttagagacgg
     3721 catggtatat tactatttcc acataatgag gagccaaaga aatctgatgt ttttaacaat
     3781 taaactgcta atgttaaatt gagagaataa agttcgtatt tgctgatgcc agtttaaaat
     3841 tcccaggtta cgtctgagga tcagttggtg taaagctgag atgttttttc ttggttctgg
     3901 ctgccaactg tgagttaaaa ctcaaggctt gttgtgaagc ctaaaaatat tcacaaataa
     3961 gcttttaaac tggtgtcttt ggaaggaagg tagatacaaa aagattgtgg taaaaactgg
     4021 ggtcagtgct cttggtgcct tttctataat tgtacttgtt ttttaattac ttcctttcac
     4081 tgccaacctc gaattactgt acagtatatg tctttctgct tgtgatcagc tttgacaaca
     4141 gtgacagccc cacaactagt agccacctgt acatttgtaa actgacctga ctccattttg
     4201 tttttaaatg tgtgggttat gttgcagctg ttgcagtccc ccagatacct attattttac
     4261 acaatttgac ctataggagg acactgagta atttacaaac acaactgcat tcataaatgg
     4321 gaatagaacg tgaaagccag ctctttcaga atatcctcta ttaatactga atttagatat
     4381 ctttattcca tttattatgg tacaaataac tgatgtttta accagagtaa tgacctcagt
     4441 ggatttgctt taaccctcac attttttttt taatgtttca catgttacat tattagctga
     4501 atacgttaga aaatgacaga tggtagagac ttccatagaa ttaagagggt tctcatggag
     4561 gggataggaa gtaggtttaa agcctaccag tgtaacctac cagtacaact gtgaatccta
     4621 ggcgaggcaa aaatgcactt ccactgaaac gaagcatttc tgaccgcttt ttcttggtta
     4681 tgaatcttaa tttcgaatat aagatgatag gtaagcgcag ctttcttgga taatctgaat
     4741 tcccaagtgc caggagtagg atttcattat aaaattaata gctaatctta ttctatctcc
     4801 tgaagattta attgctattg ttacccattc gaaatcagct gtactgtgtg aacgaaataa
     4861 agacaataat acgaacccct ctctggctgc acggtcgctt atggcagttc cacacagtag
     4921 ttggcgccca atggggggtc cctgagactt gcatgtaaaa ctagtctaga tgtcttcttt
     4981 ttttgtaagt tttatttttg taattgtgca tgtaaagcat cattgaatca atggatctgt
     5041 tgaagaactc agctgctgga aaccatgcaa aatgttttga attgccctta aaatatggaa
     5101 aatgttttct gaatgcttta tattctttct gctgtaaatt aaaaatgaag aaaatttccc
     5161 cata
//
