Human Gene CAV1 (ENST00000341049.7_6) from GENCODE V47lift37
  Description: caveolin 1, transcript variant 1 (from RefSeq NM_001753.5)
Gencode Transcript: ENST00000341049.7_6
Gencode Gene: ENSG00000105974.13_12
Transcript (Including UTRs)
   Position: hg19 chr7:116,165,090-116,201,233 Size: 36,144 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr7:116,165,117-116,199,341 Size: 34,225 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:116,165,090-116,201,233)mRNA (may differ from genome)Protein (178 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q2TNI1_HUMAN
DESCRIPTION: RecName: Full=Caveolin;
FUNCTION: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein (By similarity).
SIMILARITY: Belongs to the caveolin family.

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -2.3027-0.085 Picture PostScript Text
3' UTR -488.001892-0.258 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001612 - Caveolin
IPR015504 - Caveolin_1
IPR018361 - Caveolin_CS

Pfam Domains:
PF01146 - Caveolin

ModBase Predicted Comparative 3D Structure on Q2TNI1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016504 peptidase activator activity
GO:0019901 protein kinase binding
GO:0030674 protein binding, bridging
GO:0032947 protein complex scaffold
GO:0046982 protein heterodimerization activity
GO:0050998 nitric-oxide synthase binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000188 inactivation of MAPK activity
GO:0001525 angiogenesis
GO:0001570 vasculogenesis
GO:0001666 response to hypoxia
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001960 negative regulation of cytokine-mediated signaling pathway
GO:0002026 regulation of the force of heart contraction
GO:0002931 response to ischemia
GO:0003057 regulation of the force of heart contraction by chemical signal
GO:0006641 triglyceride metabolic process
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006940 regulation of smooth muscle contraction
GO:0007519 skeletal muscle tissue development
GO:0007595 lactation
GO:0008104 protein localization
GO:0008285 negative regulation of cell proliferation
GO:0009968 negative regulation of signal transduction
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0010608 posttranscriptional regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010952 positive regulation of peptidase activity
GO:0019217 regulation of fatty acid metabolic process
GO:0019915 lipid storage
GO:0030857 negative regulation of epithelial cell differentiation
GO:0030879 mammary gland development
GO:0031397 negative regulation of protein ubiquitination
GO:0033484 nitric oxide homeostasis
GO:0042310 vasoconstriction
GO:0042532 negative regulation of tyrosine phosphorylation of STAT protein
GO:0042632 cholesterol homeostasis
GO:0043085 positive regulation of catalytic activity
GO:0043407 negative regulation of MAP kinase activity
GO:0043409 negative regulation of MAPK cascade
GO:0043627 response to estrogen
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0045907 positive regulation of vasoconstriction
GO:0046426 negative regulation of JAK-STAT cascade
GO:0051001 negative regulation of nitric-oxide synthase activity
GO:0051259 protein oligomerization
GO:0051260 protein homooligomerization
GO:0051592 response to calcium ion
GO:0051899 membrane depolarization
GO:0052547 regulation of peptidase activity
GO:0055074 calcium ion homeostasis
GO:0060056 mammary gland involution
GO:0060546 negative regulation of necroptotic process
GO:0061099 negative regulation of protein tyrosine kinase activity
GO:0070836 caveola assembly
GO:0071375 cellular response to peptide hormone stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0086091 regulation of heart rate by cardiac conduction
GO:0086098 angiotensin-activated signaling pathway involved in heart process
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0098911 regulation of ventricular cardiac muscle cell action potential
GO:1900085 negative regulation of peptidyl-tyrosine autophosphorylation
GO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction
GO:1903598 positive regulation of gap junction assembly
GO:2000811 negative regulation of anoikis

Cellular Component:
GO:0000139 Golgi membrane
GO:0002080 acrosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0005925 focal adhesion
GO:0005929 cilium
GO:0005938 cell cortex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm


-  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.
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.
JD037741 - Sequence 18765 from Patent EP1572962.
JD053487 - Sequence 34511 from Patent EP1572962.
JD243658 - Sequence 224682 from Patent EP1572962.
AF070648 - Homo sapiens clone 24651 mRNA sequence.
JD359450 - Sequence 340474 from Patent EP1572962.
JD492492 - Sequence 473516 from Patent EP1572962.
JD304142 - Sequence 285166 from Patent EP1572962.
JD053727 - Sequence 34751 from Patent EP1572962.
JD076909 - Sequence 57933 from Patent EP1572962.
JD380873 - Sequence 361897 from Patent EP1572962.
AL133639 - Homo sapiens mRNA; cDNA DKFZp586A0421 (from clone DKFZp586A0421).
JD437647 - Sequence 418671 from Patent EP1572962.
JD502453 - Sequence 483477 from Patent EP1572962.
JD308420 - Sequence 289444 from Patent EP1572962.
JD321305 - Sequence 302329 from Patent EP1572962.
JD434116 - Sequence 415140 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  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: CAV1 , ENST00000341049.1, ENST00000341049.2, ENST00000341049.3, ENST00000341049.4, ENST00000341049.5, ENST00000341049.6, hCG_39088 , NM_001753, Q2TNI1, Q2TNI1_HUMAN, tcag7.24 , uc317vxa.1, uc317vxa.2
UCSC ID: ENST00000341049.7_6
RefSeq Accession: NM_001753.5
Protein: Q2TNI1

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

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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