LOCUS       NM_001172895            3212 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens caveolin 1 (CAV1), transcript variant 2, mRNA.
ACCESSION   NM_001172895
VERSION     NM_001172895.1
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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 3212)
  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 BC006432.1, AK290871.1,
            DB266251.1, AB209926.1, AC006159.3 and BG170208.1.
            
            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 (2) 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 :: SRR1660809.45570.1,
                                           SRR1660805.60005.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                BC006432.1         1-55
            56-56               AK290871.1         277-277
            57-297              BC006432.1         57-297
            298-323             DB266251.1         115-140
            324-401             DB266251.1         142-219
            402-1645            BC006432.1         402-1645
            1646-2342           AB209926.1         1008-1704
            2343-2343           AC006159.3         65522-65522
            2344-3193           AB209926.1         1706-2555
            3194-3212           BG170208.1         454-472
FEATURES             Location/Qualifiers
     source          1..3212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..3212
                     /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..797
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     exon            798..962
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     CDS             861..1304
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="isoform beta is encoded by transcript variant 2;
                     cell growth-inhibiting protein 32; caveolin 1, caveolae
                     protein, 22kDa"
                     /codon_start=1
                     /product="caveolin-1 isoform beta"
                     /protein_id="NP_001166366.1"
                     /db_xref="CCDS:CCDS55156.1"
                     /db_xref="GeneID:857"
                     /db_xref="HGNC:HGNC:1527"
                     /db_xref="MIM:601047"
                     /translation="MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEP
                     EGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPC
                     IKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI"
     exon            963..3202
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3174..3179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="hexamer: AATAAA"
     polyA_site      3196
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="major polyA site"
ORIGIN      
        1 taaagcacag cccagggaaa cctcctcaca gttttcatcc agccacgggc cagcatgtct
       61 gggggcaaat acgtagactc ggaggtaggc atccgtgggg gggcgccggc tcgggcgtgc
      121 ggggagtgtc cgcttctgct atctgcctct ccaaatatcc cgactgctgc cctggcccca
      181 gccctctctc cacttcggag cactcctctg gcgttggcac cgctgaggaa tgggcctggg
      241 cggggaggtg aagagaagcc aggaatgttt tatgttttcc taatggagag ggggcctagg
      301 gagcccctga gctaggagga cacggaaaag gggattgggg tcctgagatt gggtctgttg
      361 ggcccaggac gcgttttctg gatgggtcta ggatgctccc ttgtcgcggg acccccgcgg
      421 tccggccctg cctgctgggg gttcgaagag gtggagtgca gggtggaggt gttatttacc
      481 cgagtcctgg ggacagtccc cgggactctc cgccaggcgc ccagaccggc aggtcccgca
      541 ggcggcgcgc ggtgtgtttg cactttccaa agttcttgaa ccatctcaag aactccttct
      601 gcatcttggc gtctggcagg ggtgttccga gagaggtaga cctcccctcc ccaaactgcc
      661 accatcactt ccaacgccct ccacgcgctg gagctctgcc cgggtgtgga aacctcgtct
      721 tccaacacgt agctgccctt cagccacccg cccgcagcct gggagtgccc tgagggtggg
      781 tcgggggagc tgcgcaggga catctctaca ccgttcccat ccgggaacag ggcaacatct
      841 acaagcccaa caacaaggcc atggcagacg agctgagcga gaagcaagtg tacgacgcgc
      901 acaccaagga gatcgacctg gtcaaccgcg accctaaaca cctcaacgat gacgtggtca
      961 agattgactt tgaagatgtg attgcagaac cagaagggac acacagtttt gacggcattt
     1021 ggaaggccag cttcaccacc ttcactgtga cgaaatactg gttttaccgc ttgctgtctg
     1081 ccctctttgg catcccgatg gcactcatct ggggcattta cttcgccatt ctctctttcc
     1141 tgcacatctg ggcagttgta ccatgcatta agagcttcct gattgagatt cagtgcatca
     1201 gccgtgtcta ttccatctac gtccacaccg tctgtgaccc actctttgaa gctgttggga
     1261 aaatattcag caatgtccgc atcaacttgc agaaagaaat ataaatgaca tttcaaggat
     1321 agaagtatac ctgatttttt ttccttttaa ttttcctggt gccaatttca agttccaagt
     1381 tgctaataca gcaacaattt atgaattgaa ttatcttggt tgaaaataaa aagatcactt
     1441 tctcagtttt cataagtatt atgtctcttc tgagctattt catctatttt tggcagtctg
     1501 aatttttaaa acccatttaa atttttttcc ttaccttttt atttgcatgt ggatcaacca
     1561 tcgctttatt ggctgagata tgaacatatt gttgaaaggt aatttgagag aaatatgaag
     1621 aactgaggag gaaaaaaaaa aaaaagaaaa gaaccaacaa cctcaactgc ctactccaaa
     1681 atgttggtca ttttatgtta agggaagaat tccagggtat ggccatggag tgtacaagta
     1741 tgtgggcaga ttttcagcaa actcttttcc cactgtttaa ggagttagtg gattactgcc
     1801 attcacttca taatccagta ggatccagtg atccttacaa gttagaaaac ataatcttct
     1861 gccttctcat gatccaacta atgccttact cttcttgaaa ttttaaccta tgatattttc
     1921 tgtgcctgaa tatttgttat gtagataaca agacctcagt gccttcctgt ttttcacatt
     1981 ttccttttca aatagggtct aactcagcaa ctcgctttag gtcagcagcc tccctgaaga
     2041 ccaaaattag aatatccatg acctagtttt ccatgcgtgt ttctgactct gagctacaga
     2101 gtctggtgaa gctcacttct gggcttcatc tggcaacatc tttatccgta gtgggtatgg
     2161 ttgacactag cccaatgaaa tgaattaaag tggaccaata gggctgagct ctctgtgggc
     2221 tggcagtcct ggaagccagc tttccctgcc tctcatcaac tgaatgaggt cagcatgtct
     2281 attcagcttc gtttattttc aagaataatc acgctttcct gaatccaaac taatccatca
     2341 ccggggtggt ttagtggctc aacattgtgt tcccatttca gctgatcagt gggcctccaa
     2401 ggaggggctg taaaatggag gccattgtgt gagcctatca gagttgctgc aaacctgacc
     2461 cctgctcagt aaagcacttg caaccgtctg ttatgctgtg acacatggcc cctccccctg
     2521 ccaggagctt tggacctaat ccaagcatcc ctttgcccag aaagaagatg ggggaggagg
     2581 cagtaataaa aagattgaag tattttgctg gaataagttc aaattcttct gaactcaaac
     2641 tgaggaattt cacctgtaaa cctgagtcgt acagaaagct gcctggtata tccaaaagct
     2701 ttttattcct cctgctcata ttgtgattct gcctttgggg acttttctta aaccttcagt
     2761 tatgattttt ttttcataca cttattggaa ctctgcttga tttttgcctc ttccagtctt
     2821 cctgacactt taattaccaa cctgttacct actttgactt tttgcattta aaacagacac
     2881 tggcatggat atagttttac ttttaaactg tgtacataac tgaaaatgtg ctatactgca
     2941 tactttttaa atgtaaagat atttttatct ttatatgaag aaaatcactt aggaaatggc
     3001 tttgtgattc aatctgtaaa ctgtgtattc caagacatgt ctgttctaca tagatgctta
     3061 gtccctcatg caaatcaatt actggtccaa aagattgctg aaattttata tgcttactga
     3121 tatattttac aattttttat catgcatgtc ctgtaaaggt tacaagcctg cacaataaaa
     3181 atgtttaacg gttaaacagt caaaaaaaaa aa
//
