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Cav1 Gene Detail
Summary
  • Symbol
    Cav1
  • Name
    caveolin 1, caveolae protein
  • Synonyms
    Cav-1, caveolin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102709
    NCBI Gene: 12389
  • Gene Overview
    MyGene.info: CAV1
Location & Maps
more
  • Sequence Map
    Chr6:17306335-17341452 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35118 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CAV1, caveolin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CAV1, caveolin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21
  • Links
    NCBI Gene ID: 857
    neXtProt AC: NX_Q03135

  • Chr Location
    7q31.1; chr7:116524785-116561185 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1330
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: CAV1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Cav1 mouse models; 3 with human CAV1 associations

Human Disease Mouse Models
       Alzheimer Disease; AD   OMIM: 104300 View 1 model
Breast Cancer   OMIM: 114480 View 1 model
       Lipodystrophy, Congenital Generalized, Type 3; CGL3   OMIM: 612526
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome; LCCNS   OMIM: 606721
Pulmonary Hypertension, Primary, 3; PPH3   OMIM: 615343
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    191 phenotypes from 6 alleles in 13 genetic backgrounds
    31 phenotypes from multigenic genotypes
    4 images
    198 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous targeted mutants displayed vascular system dysfunctions and thickening of lung aveloar septa from hyperproliferation and fibrosis, ultimately causing the mice physical limitations. Mice also display increased incidence of calcium calculi, kidney stones, and decreased adiposity.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024023 VEGA Gene Model | MGI Sequence Detail 35118 C57BL/6J ±  kb
transcript OTTMUST00000058732 VEGA | MGI Sequence Detail 2522 Not Applicable  
polypeptide OTTMUSP00000028492 VEGA | MGI Sequence Detail 178 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    220 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 149
    Genomic 1
    cDNA 146
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-19613
References
more
  • Summaries
    All 366
    Developmental Gene Expression 31
    Diseases 2
    Gene Ontology 56
    Phenotypes 198
  • Earliest
    J:20873 Tang ZL, et al., The primary sequence of murine caveolin reveals a conserved consensus site for phosphorylation by protein kinase C. Gene. 1994 Sep 30;147(2):299-300
  • Latest
    J:229580 Weiss CR, et al., The potential protective role of caveolin-1 in intestinal inflammation in TNBS-induced murine colitis. PLoS One. 2015;10(3):e0119004

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory