Human Gene CAV1 (ENST00000614113.5) from GENCODE V44
  Description: caveolin 1 (from HGNC CAV1)
RefSeq Summary (NM_001172895): 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].
Gencode Transcript: ENST00000614113.5
Gencode Gene: ENSG00000105974.13
Transcript (Including UTRs)
   Position: hg38 chr7:116,524,994-116,559,633 Size: 34,640 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr7:116,525,063-116,526,664 Size: 1,602 Coding Exon Count: 3 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:116,524,994-116,559,633)mRNA (may differ from genome)Protein (115 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIPubMedUniProtKB
Wikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CAV1
Diseases sorted by gene-association score: lipodystrophy, congenital generalized, type 3* (1050), pulmonary hypertension, primary, 3* (1019), partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome* (969), heritable pulmonary arterial hypertension* (143), limited scleroderma* (18), berardinelli-seip congenital lipodystrophy (17), congenital generalized lipodystrophy (15), lipodystrophy (15), diffuse cutaneous systemic sclerosis* (14), pulmonary hypertension (11), eosinophilic variant of chromophobe renal cell carcinoma (10), familial partial lipodystrophy (8), ischemia (8), renal oncocytoma (8), autosomal dominant limb-girdle muscular dystrophy (7), malignant hyperthermia susceptibility (6), hepatopulmonary syndrome (6), vasculogenic impotence (5), t-cell leukemia (5), li-fraumeni syndrome (5), bone fracture (5), breast cancer (4), breast papillary carcinoma (4), open-angle glaucoma (3), prostate cancer (2), lung cancer (2), pancreatic cancer (2), colorectal cancer (2), glaucoma 1, open angle, e (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 248.74 RPKM in Cells - Cultured fibroblasts
Total median expression: 2946.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.7069-0.126 Picture PostScript Text
3' UTR -162.80713-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  EF179101 - Homo sapiens clone D09 mRNA sequence.
EF179102 - Homo sapiens clone H09 mRNA sequence.
AK290871 - Homo sapiens cDNA FLJ76154 complete cds, highly similar to Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), mRNA.
BC009685 - Homo sapiens caveolin 1, caveolae protein, 22kDa, mRNA (cDNA clone IMAGE:3890183), complete cds.
BC006432 - Homo sapiens caveolin 1, caveolae protein, 22kDa, mRNA (cDNA clone IMAGE:3689500), with apparent retained intron.
JD317457 - Sequence 298481 from Patent EP1572962.
AY762103 - Homo sapiens cell growth-inhibiting protein 32 mRNA, complete cds.
Z18951 - H.sapiens mRNA for caveolin.
BC082246 - Homo sapiens caveolin 1, caveolae protein, 22kDa, mRNA (cDNA clone MGC:99576 IMAGE:5441212), complete cds.
DQ890647 - Synthetic construct clone IMAGE:100003277; FLH164759.01X; RZPDo839B08158D caveolin 1, caveolae protein, 22kDa (CAV1) gene, encodes complete protein.
DQ893827 - Synthetic construct Homo sapiens clone IMAGE:100008287; FLH164755.01L; RZPDo839B08157D caveolin 1, caveolae protein, 22kDa (CAV1) gene, encodes complete protein.
EU176473 - Synthetic construct Homo sapiens clone IMAGE:100011615; FLH263896.01L; RZPDo839F12247D caveolin 1, caveolae protein, 22kDa (CAV1) gene, encodes complete protein.
KJ890832 - Synthetic construct Homo sapiens clone ccsbBroadEn_00226 CAV1 gene, encodes complete protein.
AB489179 - Synthetic construct DNA, clone: pF1KE0218, Homo sapiens CAV1 gene for caveolin 1, caveolae protein, 22kDa, without stop codon, in Flexi system.
AM393679 - Synthetic construct Homo sapiens clone IMAGE:100002558 for hypothetical protein (CAV1 gene).
AB451416 - Homo sapiens CAV1 mRNA for caveolin 1, partial cds, clone: FLJ08122AAAF.
BT007143 - Homo sapiens caveolin 1, caveolae protein, 22kDa mRNA, complete cds.
AB451284 - Homo sapiens CAV1 mRNA for caveolin 1, complete cds, clone: FLJ08122AAAN.
AK057982 - Homo sapiens cDNA FLJ25253 fis, clone STM03864, highly similar to CAVEOLIN-1.
AF172085 - Homo sapiens MSTP085 mRNA, complete cds.
AK307501 - Homo sapiens cDNA, FLJ97449.
EF649773 - Homo sapiens caveolin-1 beta isoform protein mRNA, partial cds, alternatively spliced.
EF649774 - Homo sapiens caveolin-1 beta isoform protein variant 1 mRNA, complete cds, alternatively spliced.
AB209926 - Homo sapiens mRNA for caveolin 1 variant protein.
JD228874 - Sequence 209898 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04510 - Focal adhesion
hsa05100 - Bacterial invasion of epithelial cells
hsa05416 - Viral myocarditis

BioCarta from NCI Cancer Genome Anatomy Project
h_integrinPathway - Integrin Signaling Pathway
h_no1Pathway - Actions of Nitric Oxide in the Heart

-  Other Names for This Gene
  Alternate Gene Symbols: A0A7P0YWJ6, BC006432, ENST00000614113.1, ENST00000614113.2, ENST00000614113.3, ENST00000614113.4, uc003vig.1, uc003vig.2, uc003vig.3, uc003vig.4
UCSC ID: ENST00000614113.5
RefSeq Accession: NM_001172895

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CAV1:
pph (Heritable Pulmonary Arterial Hypertension Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.