LOCUS       NM_001753               2456 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens caveolin 1 (CAV1), transcript variant 1, mRNA.
ACCESSION   NM_001753
VERSION     NM_001753.5
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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 2456)
  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 AK290871.1, AB209926.1,
            AC006159.3 and BG170208.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001753.4.
            
            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 (1) encodes the longer isoform
            (alpha).
            
            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 :: SRR1803612.273460.1,
                                           SRR3476690.1034034.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341049.7/ ENSP00000339191.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-870               AK290871.1         249-1118
            871-891             AB209926.1         972-992
            892-1602            AB209926.1         994-1704
            1603-1603           AC006159.3         65522-65522
            1604-2453           AB209926.1         1706-2555
            2454-2456           BG170208.1         454-456
FEATURES             Location/Qualifiers
     source          1..2456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..2456
                     /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..57
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..564
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="isoform alpha is encoded by transcript variant 1;
                     cell growth-inhibiting protein 32; caveolin 1, caveolae
                     protein, 22kDa"
                     /codon_start=1
                     /product="caveolin-1 isoform alpha"
                     /protein_id="NP_001744.2"
                     /db_xref="CCDS:CCDS5767.1"
                     /db_xref="GeneID:857"
                     /db_xref="HGNC:HGNC:1527"
                     /db_xref="MIM:601047"
                     /translation="MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDA
                     HTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRL
                     LSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLF
                     EAVGKIFSNVRINLQKEI"
     exon            58..222
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     exon            223..2456
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2434..2439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="hexamer: AATAAA"
     polyA_site      2456
                     /gene="CAV1"
                     /gene_synonym="BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21"
                     /note="major polyA site"
ORIGIN      
        1 acagttttca tccagccacg ggccagcatg tctgggggca aatacgtaga ctcggaggga
       61 catctctaca ccgttcccat ccgggaacag ggcaacatct acaagcccaa caacaaggcc
      121 atggcagacg agctgagcga gaagcaagtg tacgacgcgc acaccaagga gatcgacctg
      181 gtcaaccgcg accctaaaca cctcaacgat gacgtggtca agattgactt tgaagatgtg
      241 attgcagaac cagaagggac acacagtttt gacggcattt ggaaggccag cttcaccacc
      301 ttcactgtga cgaaatactg gttttaccgc ttgctgtctg ccctctttgg catcccgatg
      361 gcactcatct ggggcattta cttcgccatt ctctctttcc tgcacatctg ggcagttgta
      421 ccatgcatta agagcttcct gattgagatt cagtgcatca gccgtgtcta ttccatctac
      481 gtccacaccg tctgtgaccc actctttgaa gctgttggga aaatattcag caatgtccgc
      541 atcaacttgc agaaagaaat ataaatgaca tttcaaggat agaagtatac ctgatttttt
      601 ttccttttaa ttttcctggt gccaatttca agttccaagt tgctaataca gcaacaattt
      661 atgaattgaa ttatcttggt tgaaaataaa aagatcactt tctcagtttt cataagtatt
      721 atgtctcttc tgagctattt catctatttt tggcagtctg aatttttaaa acccatttaa
      781 atttttttcc ttaccttttt atttgcatgt ggatcaacca tcgctttatt ggctgagata
      841 tgaacatatt gttgaaaggt aatttgagag aaatatgaag aactgaggag gaaaaaaaaa
      901 aaaaagaaaa gaaccaacaa cctcaactgc ctactccaaa atgttggtca ttttatgtta
      961 agggaagaat tccagggtat ggccatggag tgtacaagta tgtgggcaga ttttcagcaa
     1021 actcttttcc cactgtttaa ggagttagtg gattactgcc attcacttca taatccagta
     1081 ggatccagtg atccttacaa gttagaaaac ataatcttct gccttctcat gatccaacta
     1141 atgccttact cttcttgaaa ttttaaccta tgatattttc tgtgcctgaa tatttgttat
     1201 gtagataaca agacctcagt gccttcctgt ttttcacatt ttccttttca aatagggtct
     1261 aactcagcaa ctcgctttag gtcagcagcc tccctgaaga ccaaaattag aatatccatg
     1321 acctagtttt ccatgcgtgt ttctgactct gagctacaga gtctggtgaa gctcacttct
     1381 gggcttcatc tggcaacatc tttatccgta gtgggtatgg ttgacactag cccaatgaaa
     1441 tgaattaaag tggaccaata gggctgagct ctctgtgggc tggcagtcct ggaagccagc
     1501 tttccctgcc tctcatcaac tgaatgaggt cagcatgtct attcagcttc gtttattttc
     1561 aagaataatc acgctttcct gaatccaaac taatccatca ccggggtggt ttagtggctc
     1621 aacattgtgt tcccatttca gctgatcagt gggcctccaa ggaggggctg taaaatggag
     1681 gccattgtgt gagcctatca gagttgctgc aaacctgacc cctgctcagt aaagcacttg
     1741 caaccgtctg ttatgctgtg acacatggcc cctccccctg ccaggagctt tggacctaat
     1801 ccaagcatcc ctttgcccag aaagaagatg ggggaggagg cagtaataaa aagattgaag
     1861 tattttgctg gaataagttc aaattcttct gaactcaaac tgaggaattt cacctgtaaa
     1921 cctgagtcgt acagaaagct gcctggtata tccaaaagct ttttattcct cctgctcata
     1981 ttgtgattct gcctttgggg acttttctta aaccttcagt tatgattttt ttttcataca
     2041 cttattggaa ctctgcttga tttttgcctc ttccagtctt cctgacactt taattaccaa
     2101 cctgttacct actttgactt tttgcattta aaacagacac tggcatggat atagttttac
     2161 ttttaaactg tgtacataac tgaaaatgtg ctatactgca tactttttaa atgtaaagat
     2221 atttttatct ttatatgaag aaaatcactt aggaaatggc tttgtgattc aatctgtaaa
     2281 ctgtgtattc caagacatgt ctgttctaca tagatgctta gtccctcatg caaatcaatt
     2341 actggtccaa aagattgctg aaattttata tgcttactga tatattttac aattttttat
     2401 catgcatgtc ctgtaaaggt tacaagcctg cacaataaaa atgtttaacg gttaaa
//
