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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
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:17306387-17341323 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 7.73 cM, cytoband A2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1157 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102709
 protein coding gene Chr6:17306334-17341451 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030469
 protein coding gene Chr6:14549707-14593470 (+)
A/J MGP_AJ_G0030442
 protein coding gene Chr6:13956269-13991389 (+)
AKR/J MGP_AKRJ_G0030369
 protein coding gene Chr6:14446155-14484375 (+)
BALB/cJ MGP_BALBcJ_G0030451
 protein coding gene Chr6:14051591-14085324 (+)
C3H/HeJ MGP_C3HHeJ_G0030165
 protein coding gene Chr6:14308242-14344315 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030906
 protein coding gene Chr6:15002096-15036609 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028117
 protein coding gene Chr6:12930083-12965001 (+)
CAST/EiJ MGP_CASTEiJ_G0029567
 protein coding gene Chr6:14207328-14250601 (+)
CBA/J MGP_CBAJ_G0030143
 protein coding gene Chr6:15497823-15538590 (+)
DBA/2J MGP_DBA2J_G0030287
 protein coding gene Chr6:13884820-13922558 (+)
FVB/NJ MGP_FVBNJ_G0030241
 protein coding gene Chr6:13724771-13759829 (+)
LP/J MGP_LPJ_G0030374
 protein coding gene Chr6:14634667-14670684 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030277
 protein coding gene Chr6:16675318-16714525 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030936
 protein coding gene Chr6:14325078-14362182 (+)
PWK/PhJ MGP_PWKPhJ_G0029281
 protein coding gene Chr6:13533685-13566752 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029117
 protein coding gene Chr6:14198556-14243539 (+)
WSB/EiJ MGP_WSBEiJ_G0029643
 protein coding gene Chr6:14268725-14307805 (+)



Homology
more
  • Human Ortholog
    CAV1, caveolin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CAV1, caveolin 1
  • Synonyms
    BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21
  • Links
    NCBI Gene ID: 857
    neXtProt AC: NX_Q03135
    UniProt: Q03135

  • Chr Location
    7q31.2; chr7:116524994-116561185 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Cav1 mouse models; 11 with human CAV1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    205 phenotypes from 7 alleles in 14 genetic backgrounds
    33 phenotypes from multigenic genotypes
    4 images
    390 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
less
  • All GO Annotations
    266
  • GO References
    70
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    941
  • Tissues
    112
  • cDNA Data
    146
  • Literature Summary
    58
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12389 NCBI Gene Model | MGI Sequence Detail 34937 C57BL/6J ±  kb
    transcript NM_001409565 RefSeq | MGI Sequence Detail 2731 C57BL/6  
    polypeptide P49817 UniProt | EBI | MGI Sequence Detail 178 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 159
      Genomic 1
      cDNA 147
      Primer pair 8
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19613
    References
    more
    • Summaries
      All 642
      Developmental Gene Expression 58
      Diseases 3
      Gene Ontology 70
      Phenotypes 390
    • 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:352023 Islam M, et al., Single-Cell Transcriptional Response of the Placenta to the Ablation of Caveolin-1: Insights into the Adaptive Regulation of Brain-Placental Axis in Mice. Cells. 2024 Jan 24;13(3)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory