LOCUS       NM_001172896            2562 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens caveolin 1 (CAV1), transcript variant 3, mRNA.
ACCESSION   NM_001172896
VERSION     NM_001172896.2
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 2562)
  AUTHORS   da Silva Correia,A., Schmitz,M., Fischer,A.L., da Silva Correia,S.,
            Simonetti,F.L., Saher,G., Goya-Maldonado,R., Arora,A.S.,
            Fischer,A., Outeiro,T.F. and Zerr,I.
  TITLE     Cellular prion protein acts as mediator of amyloid beta uptake by
            caveolin-1 causing cellular dysfunctions in vitro and in vivo
  JOURNAL   Alzheimers Dement 20 (10), 6776-6792 (2024)
   PUBMED   39212313
  REMARK    GeneRIF: Cellular prion protein acts as mediator of amyloid beta
            uptake by caveolin-1 causing cellular dysfunctions in vitro and in
            vivo.
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   Sakaguchi,R., Takahashi,N., Yoshida,T., Ogawa,N., Ueda,Y.,
            Hamano,S., Yamaguchi,K., Sawamura,S., Yamamoto,S., Hara,Y.,
            Kawamoto,T., Suzuki,R., Nakao,A., Mori,M.X., Furukawa,T.,
            Shimizu,S., Inoue,R. and Mori,Y.
  TITLE     Dynamic remodeling of TRPC5 channel-caveolin-1-eNOS protein
            assembly potentiates the positive feedback interaction between Ca2+
            and NO signals
  JOURNAL   J Biol Chem 300 (9), 107705 (2024)
   PUBMED   39178948
  REMARK    GeneRIF: Dynamic remodeling of TRPC5 channel-caveolin-1-eNOS
            protein assembly potentiates the positive feedback interaction
            between Ca[2+] and NO signals.
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Hu,X., Jiang,C., Gu,Y. and Xue,X.
  TITLE     Exploring the conformational dynamics and key amino acids in the
            CD26-caveolin-1 interaction and potential therapeutic interventions
  JOURNAL   Medicine (Baltimore) 103 (22), e38367 (2024)
   PUBMED   39259075
  REMARK    GeneRIF: Exploring the conformational dynamics and key amino acids
            in the CD26-caveolin-1 interaction and potential therapeutic
            interventions.
REFERENCE   4  (bases 1 to 2562)
  AUTHORS   Kim,C.A., Delepine,M., Boutet,E., El Mourabit,H., Le Lay,S.,
            Meier,M., Nemani,M., Bridel,E., Leite,C.C., Bertola,D.R.,
            Semple,R.K., O'Rahilly,S., Dugail,I., Capeau,J., Lathrop,M. and
            Magre,J.
  TITLE     Association of a homozygous nonsense caveolin-1 mutation with
            Berardinelli-Seip congenital lipodystrophy
  JOURNAL   J Clin Endocrinol Metab 93 (4), 1129-1134 (2008)
   PUBMED   18211975
  REMARK    GeneRIF: CAV1 as a new Berardinelli-Seip congenital lipodystrophy
            (BSCL)-related gene and support a critical role for caveolins in
            human adipocyte function.
REFERENCE   5  (bases 1 to 2562)
  AUTHORS   Engelman,J.A., Zhang,X.L. and Lisanti,M.P.
  TITLE     Genes encoding human caveolin-1 and -2 are co-localized to the
            D7S522 locus (7q31.1), a known fragile site (FRA7G) that is
            frequently deleted in human cancers
  JOURNAL   FEBS Lett 436 (3), 403-410 (1998)
   PUBMED   9801158
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Song,K.S., Li,Shengwen., Okamoto,T., Quilliam,L.A., Sargiacomo,M.
            and Lisanti,M.P.
  TITLE     Co-purification and direct interaction of Ras with caveolin, an
            integral membrane protein of caveolae microdomains. Detergent-free
            purification of caveolae microdomains
  JOURNAL   J Biol Chem 271 (16), 9690-9697 (1996)
   PUBMED   8621645
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Li,S., Seitz,R. and Lisanti,M.P.
  TITLE     Phosphorylation of caveolin by src tyrosine kinases. The
            alpha-isoform of caveolin is selectively phosphorylated by v-Src in
            vivo
  JOURNAL   J Biol Chem 271 (7), 3863-3868 (1996)
   PUBMED   8632005
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Sargiacomo,M., Scherer,P.E., Tang,Z.L., Casanova,J.E. and
            Lisanti,M.P.
  TITLE     In vitro phosphorylation of caveolin-rich membrane domains:
            identification of an associated serine kinase activity as a casein
            kinase II-like enzyme
  JOURNAL   Oncogene 9 (9), 2589-2595 (1994)
   PUBMED   8058322
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Austin,E.D., Phillips,J.A. III and Loyd,J.E.
  TITLE     Heritable Pulmonary Arterial Hypertension Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301658
REFERENCE   10 (bases 1 to 2562)
  AUTHORS   Glenney,J.R. Jr.
  TITLE     The sequence of human caveolin reveals identity with VIP21, a
            component of transport vesicles
  JOURNAL   FEBS Lett 314 (1), 45-48 (1992)
   PUBMED   1360410
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA943080.1, AF172085.1,
            AK290871.1, AB209926.1, AC006159.3 and BG170208.1.
            
            On May 31, 2019 this sequence version replaced NM_001172896.1.
            
            Summary: The scaffolding protein encoded by this gene is the main
            component of the caveolae plasma membranes found in most cell
            types. The protein links integrin subunits to the tyrosine kinase
            FYN, an initiating step in coupling integrins to the Ras-ERK
            pathway and promoting cell cycle progression. The gene is a tumor
            suppressor gene candidate and a negative regulator of the
            Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and
            caveolin 2 are located next to each other on chromosome 7 and
            express colocalizing proteins that form a stable hetero-oligomeric
            complex. Mutations in this gene have been associated with
            Berardinelli-Seip congenital lipodystrophy. Alternatively spliced
            transcripts encode alpha and beta isoforms of caveolin 1.[provided
            by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (beta) is shorter than isoform alpha. Variants 2, 3 and 4 encode
            the same isoform.
            
            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 :: SRR1803617.27848.1,
                                           SRR1803615.33231.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DA943080.1         70-104
            36-563              AF172085.1         45-572
            564-976             AK290871.1         706-1118
            977-997             AB209926.1         972-992
            998-1708            AB209926.1         994-1704
            1709-1709           AC006159.3         65522-65522
            1710-2559           AB209926.1         1706-2555
            2560-2562           BG170208.1         454-456
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..2562
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="caveolin 1"
                     /db_xref="GeneID:857"
                     /db_xref="HGNC:HGNC:1527"
                     /db_xref="MIM:601047"
     exon            1..328
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..670
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="isoform beta is encoded by transcript variant 3;
                     cell growth-inhibiting protein 32; caveolin 1, caveolae
                     protein, 22kDa"
                     /codon_start=1
                     /product="caveolin-1 isoform beta"
                     /protein_id="NP_001166367.1"
                     /db_xref="CCDS:CCDS55156.1"
                     /db_xref="GeneID:857"
                     /db_xref="HGNC:HGNC:1527"
                     /db_xref="MIM:601047"
                     /translation="MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEP
                     EGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPC
                     IKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI"
     exon            329..2562
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="major polyA site"
ORIGIN      
        1 gtgcacggag ccgtagctgt cggagcggtt agttcgattt cgagctcgag gtttcccccg
       61 ccgccaggct gacttctcat cgcttgtttt tctttttgca tttttcctcc caccgccgtt
      121 gccgccctcc ccgtcctggc cgtccgccct ccgccctctg cagggacatc tctacaccgt
      181 tcccatccgg gaacagggca acatctacaa gcccaacaac aaggccatgg cagacgagct
      241 gagcgagaag caagtgtacg acgcgcacac caaggagatc gacctggtca accgcgaccc
      301 taaacacctc aacgatgacg tggtcaagat tgactttgaa gatgtgattg cagaaccaga
      361 agggacacac agttttgacg gcatttggaa ggccagcttc accaccttca ctgtgacgaa
      421 atactggttt taccgcttgc tgtctgccct ctttggcatc ccgatggcac tcatctgggg
      481 catttacttc gccattctct ctttcctgca catctgggca gttgtaccat gcattaagag
      541 cttcctgatt gagattcagt gcatcagccg tgtctattcc atctacgtcc acaccgtctg
      601 tgacccactc tttgaagctg ttgggaaaat attcagcaat gtccgcatca acttgcagaa
      661 agaaatataa atgacatttc aaggatagaa gtatacctga ttttttttcc ttttaatttt
      721 cctggtgcca atttcaagtt ccaagttgct aatacagcaa caatttatga attgaattat
      781 cttggttgaa aataaaaaga tcactttctc agttttcata agtattatgt ctcttctgag
      841 ctatttcatc tatttttggc agtctgaatt tttaaaaccc atttaaattt ttttccttac
      901 ctttttattt gcatgtggat caaccatcgc tttattggct gagatatgaa catattgttg
      961 aaaggtaatt tgagagaaat atgaagaact gaggaggaaa aaaaaaaaaa agaaaagaac
     1021 caacaacctc aactgcctac tccaaaatgt tggtcatttt atgttaaggg aagaattcca
     1081 gggtatggcc atggagtgta caagtatgtg ggcagatttt cagcaaactc ttttcccact
     1141 gtttaaggag ttagtggatt actgccattc acttcataat ccagtaggat ccagtgatcc
     1201 ttacaagtta gaaaacataa tcttctgcct tctcatgatc caactaatgc cttactcttc
     1261 ttgaaatttt aacctatgat attttctgtg cctgaatatt tgttatgtag ataacaagac
     1321 ctcagtgcct tcctgttttt cacattttcc ttttcaaata gggtctaact cagcaactcg
     1381 ctttaggtca gcagcctccc tgaagaccaa aattagaata tccatgacct agttttccat
     1441 gcgtgtttct gactctgagc tacagagtct ggtgaagctc acttctgggc ttcatctggc
     1501 aacatcttta tccgtagtgg gtatggttga cactagccca atgaaatgaa ttaaagtgga
     1561 ccaatagggc tgagctctct gtgggctggc agtcctggaa gccagctttc cctgcctctc
     1621 atcaactgaa tgaggtcagc atgtctattc agcttcgttt attttcaaga ataatcacgc
     1681 tttcctgaat ccaaactaat ccatcaccgg ggtggtttag tggctcaaca ttgtgttccc
     1741 atttcagctg atcagtgggc ctccaaggag gggctgtaaa atggaggcca ttgtgtgagc
     1801 ctatcagagt tgctgcaaac ctgacccctg ctcagtaaag cacttgcaac cgtctgttat
     1861 gctgtgacac atggcccctc cccctgccag gagctttgga cctaatccaa gcatcccttt
     1921 gcccagaaag aagatggggg aggaggcagt aataaaaaga ttgaagtatt ttgctggaat
     1981 aagttcaaat tcttctgaac tcaaactgag gaatttcacc tgtaaacctg agtcgtacag
     2041 aaagctgcct ggtatatcca aaagcttttt attcctcctg ctcatattgt gattctgcct
     2101 ttggggactt ttcttaaacc ttcagttatg attttttttt catacactta ttggaactct
     2161 gcttgatttt tgcctcttcc agtcttcctg acactttaat taccaacctg ttacctactt
     2221 tgactttttg catttaaaac agacactggc atggatatag ttttactttt aaactgtgta
     2281 cataactgaa aatgtgctat actgcatact ttttaaatgt aaagatattt ttatctttat
     2341 atgaagaaaa tcacttagga aatggctttg tgattcaatc tgtaaactgt gtattccaag
     2401 acatgtctgt tctacataga tgcttagtcc ctcatgcaaa tcaattactg gtccaaaaga
     2461 ttgctgaaat tttatatgct tactgatata ttttacaatt ttttatcatg catgtcctgt
     2521 aaaggttaca agcctgcaca ataaaaatgt ttaacggtta aa
//
