LOCUS       NM_001172897            2426 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens caveolin 1 (CAV1), transcript variant 4, mRNA.
ACCESSION   NM_001172897
VERSION     NM_001172897.2
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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 2426)
  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 DA477166.1, EF649773.1,
            AK290871.1, AB209926.1, AC006159.3 and BG170208.1.
            
            On May 31, 2019 this sequence version replaced NM_001172897.1.
            
            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 (4) 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 :: SRR1660805.72143.1,
                                           DRR138524.1169369.1 [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
            1-1                 DA477166.1         5-5
            2-427               EF649773.1         1-426
            428-840             AK290871.1         706-1118
            841-861             AB209926.1         972-992
            862-1572            AB209926.1         994-1704
            1573-1573           AC006159.3         65522-65522
            1574-2423           AB209926.1         1706-2555
            2424-2426           BG170208.1         454-456
FEATURES             Location/Qualifiers
     source          1..2426
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..2426
                     /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..27
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     exon            28..192
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..534
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="isoform beta is encoded by transcript variant 4;
                     cell growth-inhibiting protein 32; caveolin 1, caveolae
                     protein, 22kDa"
                     /codon_start=1
                     /product="caveolin-1 isoform beta"
                     /protein_id="NP_001166368.1"
                     /db_xref="CCDS:CCDS55156.1"
                     /db_xref="GeneID:857"
                     /db_xref="HGNC:HGNC:1527"
                     /db_xref="MIM:601047"
                     /translation="MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEP
                     EGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPC
                     IKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI"
     exon            193..2426
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2404..2409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="hexamer: AATAAA"
     polyA_site      2426
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="major polyA site"
ORIGIN      
        1 gtgcacggag ccgtagctgt cggagcggga catctctaca ccgttcccat ccgggaacag
       61 ggcaacatct acaagcccaa caacaaggcc atggcagacg agctgagcga gaagcaagtg
      121 tacgacgcgc acaccaagga gatcgacctg gtcaaccgcg accctaaaca cctcaacgat
      181 gacgtggtca agattgactt tgaagatgtg attgcagaac cagaagggac acacagtttt
      241 gacggcattt ggaaggccag cttcaccacc ttcactgtga cgaaatactg gttttaccgc
      301 ttgctgtctg ccctctttgg catcccgatg gcactcatct ggggcattta cttcgccatt
      361 ctctctttcc tgcacatctg ggcagttgta ccatgcatta agagcttcct gattgagatt
      421 cagtgcatca gccgtgtcta ttccatctac gtccacaccg tctgtgaccc actctttgaa
      481 gctgttggga aaatattcag caatgtccgc atcaacttgc agaaagaaat ataaatgaca
      541 tttcaaggat agaagtatac ctgatttttt ttccttttaa ttttcctggt gccaatttca
      601 agttccaagt tgctaataca gcaacaattt atgaattgaa ttatcttggt tgaaaataaa
      661 aagatcactt tctcagtttt cataagtatt atgtctcttc tgagctattt catctatttt
      721 tggcagtctg aatttttaaa acccatttaa atttttttcc ttaccttttt atttgcatgt
      781 ggatcaacca tcgctttatt ggctgagata tgaacatatt gttgaaaggt aatttgagag
      841 aaatatgaag aactgaggag gaaaaaaaaa aaaaagaaaa gaaccaacaa cctcaactgc
      901 ctactccaaa atgttggtca ttttatgtta agggaagaat tccagggtat ggccatggag
      961 tgtacaagta tgtgggcaga ttttcagcaa actcttttcc cactgtttaa ggagttagtg
     1021 gattactgcc attcacttca taatccagta ggatccagtg atccttacaa gttagaaaac
     1081 ataatcttct gccttctcat gatccaacta atgccttact cttcttgaaa ttttaaccta
     1141 tgatattttc tgtgcctgaa tatttgttat gtagataaca agacctcagt gccttcctgt
     1201 ttttcacatt ttccttttca aatagggtct aactcagcaa ctcgctttag gtcagcagcc
     1261 tccctgaaga ccaaaattag aatatccatg acctagtttt ccatgcgtgt ttctgactct
     1321 gagctacaga gtctggtgaa gctcacttct gggcttcatc tggcaacatc tttatccgta
     1381 gtgggtatgg ttgacactag cccaatgaaa tgaattaaag tggaccaata gggctgagct
     1441 ctctgtgggc tggcagtcct ggaagccagc tttccctgcc tctcatcaac tgaatgaggt
     1501 cagcatgtct attcagcttc gtttattttc aagaataatc acgctttcct gaatccaaac
     1561 taatccatca ccggggtggt ttagtggctc aacattgtgt tcccatttca gctgatcagt
     1621 gggcctccaa ggaggggctg taaaatggag gccattgtgt gagcctatca gagttgctgc
     1681 aaacctgacc cctgctcagt aaagcacttg caaccgtctg ttatgctgtg acacatggcc
     1741 cctccccctg ccaggagctt tggacctaat ccaagcatcc ctttgcccag aaagaagatg
     1801 ggggaggagg cagtaataaa aagattgaag tattttgctg gaataagttc aaattcttct
     1861 gaactcaaac tgaggaattt cacctgtaaa cctgagtcgt acagaaagct gcctggtata
     1921 tccaaaagct ttttattcct cctgctcata ttgtgattct gcctttgggg acttttctta
     1981 aaccttcagt tatgattttt ttttcataca cttattggaa ctctgcttga tttttgcctc
     2041 ttccagtctt cctgacactt taattaccaa cctgttacct actttgactt tttgcattta
     2101 aaacagacac tggcatggat atagttttac ttttaaactg tgtacataac tgaaaatgtg
     2161 ctatactgca tactttttaa atgtaaagat atttttatct ttatatgaag aaaatcactt
     2221 aggaaatggc tttgtgattc aatctgtaaa ctgtgtattc caagacatgt ctgttctaca
     2281 tagatgctta gtccctcatg caaatcaatt actggtccaa aagattgctg aaattttata
     2341 tgcttactga tatattttac aattttttat catgcatgtc ctgtaaaggt tacaagcctg
     2401 cacaataaaa atgtttaacg gttaaa
//
