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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAV1
caveolin 1
Chromosome 7 Β· 7q31.2
NCBI Gene: 857Ensembl: ENSG00000105974.14HGNC: HGNC:1527UniProt: A9XTE5
1,228PubMed Papers
23Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to progesteroneresponse to estrogenfocal adhesionsignaling receptor bindingcongenital generalized lipodystrophy type 3pulmonary hypertension, primary, 3partial lipodystrophy, congenital cataracts, and neurodegeneration syndromeatrial fibrillation
✦AI Summary

CAV1 encodes caveolin-1, a scaffolding protein essential for caveolae formation and membrane raft organization 1. The protein forms stable complexes that drive caveolae assembly and mediates recruitment of CAVIN proteins to these membrane structures. CAV1 functions as a critical regulator of multiple cellular processes through direct protein interactions and signaling pathway modulation. The protein exhibits context-dependent dual roles in cancer, acting as both a tumor suppressor and promoter depending on cellular environment and cancer subtype 2. In glioblastoma, CAV1 promotes stemness and temozolomide resistance through AKT/ERK1/2 signaling activation, with TRAF4-mediated stabilization preventing ubiquitin-mediated degradation 3. CAV1 expression correlates with poor prognosis in multiple myeloma and serves as a potential therapeutic target 4. The protein plays crucial roles in anoikis regulation, with downregulation promoting this form of cell death in gliomas 5. Additionally, CAV1 facilitates cancer-associated fibroblast-mediated chemotherapy resistance in pancreatic cancer through LIF/STAT3 axis modulation 1. Genetic polymorphisms in CAV1 are associated with atrial fibrillation susceptibility 6, highlighting its broader physiological importance beyond cancer biology.

Sources cited
1
CAV1 acts as scaffolding protein and mediates cancer-associated fibroblast-induced chemotherapy resistance through LIF secretion
PMID: 35045883
2
CAV1 exhibits dual role as tumor suppressor and promoter depending on cellular context and breast cancer subtype
PMID: 40197489
3
CAV1 promotes glioblastoma stemness and temozolomide resistance through AKT/ERK1/2 signaling, stabilized by TRAF4
PMID: 35895752
4
CAV1 identified as key ferroptosis-related gene associated with multiple myeloma prognosis
PMID: 40246772
5
CAV1 downregulation promotes anoikis and reduces glioma cell proliferation and motility
PMID: 40516904
6
CAV1 rs3807989 polymorphism significantly associated with atrial fibrillation susceptibility
PMID: 27775682
Disease Associationsβ“˜23
congenital generalized lipodystrophy type 3Open Targets
0.65Moderate
pulmonary hypertension, primary, 3Open Targets
0.62Moderate
partial lipodystrophy, congenital cataracts, and neurodegeneration syndromeOpen Targets
0.61Moderate
atrial fibrillationOpen Targets
0.56Moderate
glaucomaOpen Targets
0.52Moderate
cardiac arrhythmiaOpen Targets
0.50Moderate
open-angle glaucomaOpen Targets
0.49Moderate
atrial flutterOpen Targets
0.47Moderate
Generalized congenital lipodystrophy with myopathyOpen Targets
0.47Moderate
heart failureOpen Targets
0.45Moderate
pulmonary arterial hypertensionOpen Targets
0.44Moderate
heritable pulmonary arterial hypertensionOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
paroxysmal tachycardiaOpen Targets
0.41Moderate
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
chronic obstructive pulmonary diseaseOpen Targets
0.35Weak
heart diseaseOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.34Weak
Lipodystrophy, congenital generalized, 3UniProt
Lipodystrophy, familial partial, 7UniProt
Pulmonary hypertension, primary, 3UniProt
Pathogenic Variants12
NM_001753.5(CAV1):c.436del (p.Arg146fs)Likely pathogenic
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 146
NM_001753.5(CAV1):c.396dup (p.Cys133fs)Likely pathogenic
CAV1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 133
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)Pathogenic
Congenital generalized lipodystrophy type 3|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 38
NM_001753.5(CAV1):c.368_369del (p.Ser123fs)Pathogenic
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 123
NM_001753.5(CAV1):c.446_447insT (p.Ile150fs)Likely pathogenic
Pulmonary hypertension, primary, 3
β˜…β˜†β˜†β˜†2022β†’ Residue 150
NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)Pathogenic
Pulmonary hypertension, primary, 3
β˜…β˜†β˜†β˜†2013β†’ Residue 134
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)Pathogenic
Inborn genetic diseases|Pulmonary hypertension, primary, 3;Congenital generalized lipodystrophy type 3|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜…β˜†β˜†β˜†β†’ Residue 159
NM_001753.5(CAV1):c.237_238del (p.His79fs)Pathogenic
Congenital generalized lipodystrophy type 3
β˜†β˜†β˜†β˜†2023β†’ Residue 79
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)Pathogenic
Congenital generalized lipodystrophy type 3|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 142
NM_001753.5(CAV1):c.473del (p.Pro158fs)Pathogenic
Pulmonary hypertension, primary, 3
β˜†β˜†β˜†β˜†2012β†’ Residue 158
NM_001753.5(CAV1):c.474del (p.Leu159fs)Pathogenic
Pulmonary hypertension, primary, 3
β˜†β˜†β˜†β˜†2012β†’ Residue 159
NM_001753.5(CAV1):c.400del (p.Ile134fs)Pathogenic
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
β˜†β˜†β˜†β˜†2008β†’ Residue 134
View on ClinVar β†—
Related Genes
BSGProtein interaction100%MMP14Protein interaction100%TLR4Protein interaction100%ADD3Protein interaction99%KCNN3Protein interaction99%HSP90B1Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
85%
Ovary
25%
Liver
3%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CAV1BSGMMP14TLR4ADD3KCNN3HSP90B1
PROTEIN STRUCTURE
Preparing viewer…
PDB7SC0 Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.57 [0.35–0.97]
RankingsWhere CAV1 stands among ~20K protein-coding genes
  • #116of 20,598
    Most Researched1,228 Β· top 1%
  • #2,638of 5,498
    Most Pathogenic Variants12
  • #9,165of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCAV1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
circFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis.
PMID: 35045883
Mol Cancer Β· 2022
1.00
2
Induction of Potent Neutralizing Antibody Responses by a Designed Protein Nanoparticle Vaccine for Respiratory Syncytial Virus.
PMID: 30849373
Cell Β· 2019
0.90
3
PMID: 41568559
J Am Heart Assoc Β· 2026
0.88
4
Caveolin-1 in oncogenic metabolic symbiosis.
PMID: 32196654
Int J Cancer Β· 2020
0.84
5
Targeting Caveolin-1 in Multiple Myeloma Cells Enhances Chemotherapy and Natural Killer Cell-Mediated Immunotherapy.
PMID: 39630017
Adv Sci (Weinh) Β· 2025
0.82