LOCUS       NM_001242701             859 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens calmodulin binding transcription activator 1 (CAMTA1),
            transcript variant 3, mRNA.
ACCESSION   NM_001242701
VERSION     NM_001242701.2
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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 859)
  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 BC151835.1, CD103791.1 and
            AI278074.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001242701.1.
            
            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 (3) uses an alternate, 3' terminal
            exon compared to variant 1. This results in a shorter protein
            (isoform c, also known as 3) that lacks the ankyrin repeats and
            calmodulin-binding motifs, compared to isoform a.
            
            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 :: SRR18074968.1811435.1,
                                           SRR18074969.3418090.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                BC151835.1         131-205
            76-413              CD103791.1         5-342
            414-859             AI278074.1         9-454               c
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31-p36.23"
     gene            1..859
                     /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..122
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..383
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="isoform c is encoded by transcript variant 3"
                     /codon_start=1
                     /product="calmodulin-binding transcription activator 1
                     isoform c"
                     /protein_id="NP_001229630.1"
                     /db_xref="CCDS:CCDS55575.1"
                     /db_xref="GeneID:23261"
                     /db_xref="HGNC:HGNC:18806"
                     /db_xref="MIM:611501"
                     /translation="MWRAEGKWLPKTSRKSVSQSVFCGTSTYCVLNTVPPIEDDHGNS
                     NSSHVKIFLPKKLLECLPKCSSLPKERHRWNTNEALTTHLFMGAAKKRDPQSWSHEG"
     exon            123..192
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            193..311
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     exon            312..859
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      840..845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="hexamer: AATAAA"
     polyA_site      859
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /note="major polyA site"
ORIGIN      
        1 ggcggcgggg tggctgggcc ggcggcggcg gcggtacgag gcgcgcgctc ggggtcccgg
       61 tcgcgaggag gaggaggatg tggcgcgcgg aggggaaatg gctgccgaaa acaagccgga
      121 agagcgtttc ccaaagtgta ttctgcggaa ctagcaccta ctgtgttctc aacaccgtgc
      181 cacctataga agatgatcat gggaacagca atagtagtca tgtaaaaatc tttttaccga
      241 aaaagctgct tgaatgtctg ccgaaatgtt caagtttacc aaaagagagg caccgctgga
      301 acactaatga ggctctcacc acacacttgt tcatgggcgc agcaaagaag agggatccac
      361 agagctggag ccatgagggc tgacacattg gaatgaaagc tggcagaatt cgtagggaga
      421 gctttcccat cctgccagcc ccatgtctgg ctttaagaca gttctattag tgaattaact
      481 gttctcaaaa ccccaaatta atttgaaccg aatgttacta aaaatgaaat agaataaagt
      541 gacctactct tgcctcatcc ggagttatta cgaaggagct ccgcagcctg actgagctct
      601 ggagagcagg gctctgtgca cacgcctcct ggtccagagg cctccgtgac catccatgat
      661 gccactctgt cccctcagca agctgccttt ttcttcctag cacctgcccc agcggtggta
      721 tgttttccag tcagttacca cctgtctcat cagaatggaa gctccatgag agcagggcct
      781 ttgtcttgtc cccttgtatc ttcagtgcat aggacagtgc tgacacagtg cagagtctaa
      841 ataaacgctg ttgaacgaa
//
