LOCUS       NM_033337               1422 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA.
ACCESSION   NM_033337
VERSION     NM_033337.3
KEYWORDS    RefSeq; MANE Select.
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 1422)
  AUTHORS   Nakashima,M., Suga,N., Yoshikawa,S. and Matsuda,S.
  TITLE     Caveolin and NOS in the Development of Muscular Dystrophy
  JOURNAL   Int J Mol Sci 25 (16), 8771 (2024)
   PUBMED   39201459
  REMARK    GeneRIF: Caveolin and NOS in the Development of Muscular Dystrophy.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1422)
  AUTHORS   Garman,K.S., Purkayastha,B.P.D., Hogue,J.A., Fecteau,R., Guda,K.
            and Chak,A.
  CONSRTM   BETRNet CONSORTIUM
  TITLE     Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New
            Paradigm in Esophageal Adenocarcinoma Risk
  JOURNAL   Gastroenterology 165 (6), 1561-1564 (2023)
   PUBMED   37659676
  REMARK    GeneRIF: Genetic Defect in Submucosal Gland-Associated Caveolin-3:
            A New Paradigm in Esophageal Adenocarcinoma Risk.
REFERENCE   3  (bases 1 to 1422)
  AUTHORS   Grundy,L., Tay,C., Christie,S., Harrington,A.M., Castro,J.,
            Cardoso,F.C., Lewis,R.J., Zagorodnyuk,V. and Brierley,S.M.
  TITLE     The T-type calcium channel Ca V 3.2 regulates bladder afferent
            responses to mechanical stimuli
  JOURNAL   Pain 164 (5), 1012-1026 (2023)
   PUBMED   36279179
  REMARK    GeneRIF: The T-type calcium channel Ca V 3.2 regulates bladder
            afferent responses to mechanical stimuli.
REFERENCE   4  (bases 1 to 1422)
  AUTHORS   Venugopal,P., Logu,K., Balakrishnan,K., Subbaih,U., Damal
            Kandadai,S. and George,M.
  TITLE     Differential Expression of Caveolin-3, Suppression of
            Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and
            Their Association with Acute Myocardial Infarction: A
            Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu
  JOURNAL   Genet Test Mol Biomarkers 27 (3), 109-119 (2023)
   PUBMED   36989524
  REMARK    GeneRIF: Differential Expression of Caveolin-3, Suppression of
            Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and
            Their Association with Acute Myocardial Infarction: A
            Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.
REFERENCE   5  (bases 1 to 1422)
  AUTHORS   Scherer,P.E. and Lisanti,M.P.
  TITLE     Association of phosphofructokinase-M with caveolin-3 in
            differentiated skeletal myotubes. Dynamic regulation by
            extracellular glucose and intracellular metabolites
  JOURNAL   J Biol Chem 272 (33), 20698-20705 (1997)
   PUBMED   9252390
REFERENCE   6  (bases 1 to 1422)
  AUTHORS   Tang,Z., Scherer,P.E., Okamoto,T., Song,K., Chu,C., Kohtz,D.S.,
            Nishimoto,I., Lodish,H.F. and Lisanti,M.P.
  TITLE     Molecular cloning of caveolin-3, a novel member of the caveolin
            gene family expressed predominantly in muscle
  JOURNAL   J Biol Chem 271 (4), 2255-2261 (1996)
   PUBMED   8567687
REFERENCE   7  (bases 1 to 1422)
  AUTHORS   Li,S., Okamoto,T., Chun,M., Sargiacomo,M., Casanova,J.E.,
            Hansen,S.H., Nishimoto,I. and Lisanti,M.P.
  TITLE     Evidence for a regulated interaction between heterotrimeric G
            proteins and caveolin
  JOURNAL   J Biol Chem 270 (26), 15693-15701 (1995)
   PUBMED   7797570
REFERENCE   8  (bases 1 to 1422)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   9  (bases 1 to 1422)
  AUTHORS   Bruno,C., Sotgia,F., Gazzerro,E., Minetti,C. and Lisanti,M.P.
  TITLE     Caveolinopathies - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301559
REFERENCE   10 (bases 1 to 1422)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291892.1, BC102033.1,
            BX114193.1 and AA993189.1.
            
            On Aug 31, 2019 this sequence version replaced NM_033337.2.
            
            Summary: This gene encodes a caveolin family member, which
            functions as a component of the caveolae plasma membranes found in
            most cell types. Caveolin proteins are proposed to be scaffolding
            proteins for organizing and concentrating certain
            caveolin-interacting molecules. Mutations identified in this gene
            lead to interference with protein oligomerization or intra-cellular
            routing, disrupting caveolae formation and resulting in Limb-Girdle
            muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling
            muscle disease (RMD). Alternative splicing has been identified for
            this locus, with inclusion or exclusion of a differentially spliced
            intron. In addition, transcripts utilize multiple polyA sites and
            contain two potential translation initiation sites. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is longer than variant 2,
            since it includes a differentially spliced intron located in the 3'
            UTR, but both transcripts encode identical proteins.
            
            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 :: AF043101.1, DA898993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343849.3/ ENSP00000341940.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AK291892.1         3-175
            174-700             BC102033.1         136-662
            701-1173            BX114193.1         174-646
            1174-1422           AA993189.1         12-260              c
FEATURES             Location/Qualifiers
     source          1..1422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1422
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /note="caveolin 3"
                     /db_xref="GeneID:859"
                     /db_xref="HGNC:HGNC:1529"
                     /db_xref="MIM:601253"
     exon            1..189
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..531
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /note="M-caveolin; cavolin 3"
                     /codon_start=1
                     /product="caveolin-3"
                     /protein_id="NP_203123.1"
                     /db_xref="CCDS:CCDS2569.1"
                     /db_xref="GeneID:859"
                     /db_xref="HGNC:HGNC:1529"
                     /db_xref="MIM:601253"
                     /translation="MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDV
                     IAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWA
                     VVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV"
     exon            190..1422
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1004..1009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /note="hexamer: AATATA"
     polyA_site      1031
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
     regulatory      1403..1408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /note="hexamer: AATAAA"
     polyA_site      1422
                     /gene="CAV3"
                     /gene_synonym="LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21"
                     /note="major polyA site"
ORIGIN      
        1 ctctgcccca agtattttca gccccagccg gccacacagc tcggatctcc tcctgtggat
       61 ccccccagct ctgcgatgat ggcagaagag cacacagatc tcgaggccca gatcgtcaag
      121 gatatccact gcaaggagat tgacctggtg aaccgagacc ccaagaacat taacgaggac
      181 atagtcaagg tggattttga agacgtgatc gcagagcctg tgggcaccta cagctttgac
      241 ggcgtgtgga aggtgagcta caccaccttc actgtctcca agtactggtg ctaccgtctg
      301 ttgtccacgc tgctgggcgt cccactggcc ctgctctggg gcttcctgtt cgcctgcatc
      361 tccttctgcc acatctgggc ggtggtgcca tgcattaaga gctacctgat cgagatccag
      421 tgcatcagcc acatctactc actctgcatc cgcaccttct gcaacccact cttcgcggcc
      481 ctgggccagg tctgcagcag catcaaggtg gtgctgcgga aggaggtcta aagccaggtg
      541 gggcaacagc ggtggcaggg cagggggtgg tgggccagac tggtccccgg gggacttctt
      601 cacaggggct gctggcgagc tctttctctt tagggactgc tccatacccc atgatggagc
      661 acacggtgta gggaagccag aaagaaaaga cggcccagcc acagaagcac aatggccctt
      721 cgctctcccc cagccccacc atgatgcccc catgcctggg cgtgggggaa gatcatttgc
      781 caagaggcag ctactgcaag tctttgcgtt cacttgtact gtaacaacat aaaccagcac
      841 gcggttccca cccggggcca acctctccac gcgcactcag gaaagtgacc agtgaccact
      901 ggcgttagga aggtggctcc agtaaagggt tttggctgca tttggggaat gctgcatttt
      961 gttcgtgcct gtaagattgg tttgtgtcct gaccagctcc aaaaatatac ttcactgccc
     1021 tgaaaaacag acacagggag agttggttgt ctcttcactt ggccaaatgt aagtgaagaa
     1081 cagagtcttt ttcttcttcg gattctattg tttgctggaa ccgtacacgt tccttggaag
     1141 atcatgttta agtgactcct gttgcctgag cacaaaaatg ggcaccaatg gaggaaaatg
     1201 acccttgggc tggcaggggc agtgaccctt ccagggtacc actgagggaa gggcctgggt
     1261 tcaagcctcc cggaacctcc cctttggcta accgagcccc tgaaatgccc agtactgcca
     1321 tttgacatga gggtaccttc gccctcagga gatgtgacga aggaacaagg tctaatttgt
     1381 gcgtgtgtgg actcactatg gaaataaaat gcagtagaaa ga
//
