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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CAVIN1
caveolae associated protein 1
Chromosome 17 Β· 17q21.2
NCBI Gene: 284119Ensembl: ENSG00000177469.14HGNC: HGNC:9688UniProt: Q6NZI2
169PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingprotein bindingrRNA primary transcript bindingidentical protein bindingcongenital generalized lipodystrophy type 4Generalized congenital lipodystrophy with myopathylipodystrophycongenital generalized lipodystrophy
✦AI Summary

CAVIN1 (caveolae-associated protein 1) is an essential core component of the CAVIN complex required for caveolae biogenesis in all tissues 1. It functions as a master regulator of caveolae formation by enabling recruitment of the CAVIN complex to the plasma membrane in cooperation with caveolin-1 1. Beyond structural roles, CAVIN1 participates in ribosomal RNA transcription by promoting transcriptional activity in adipocytes and regulating RNA polymerase I dynamics 1. Recent evidence demonstrates CAVIN1 mediates hERG potassium channel trafficking from the plasma membrane to cytoskeletal compartments, regulating cardiac repolarization and contributing to interindividual variability in drug-induced QT prolongation 2. CAVIN1 exhibits higher expression in type 2 skeletal muscle fibers 3. Germline CAVIN1 mutations cause congenital generalized lipodystrophy type 4 (CGL4), characterized by near-total adipose tissue loss, muscular dystrophy with elevated creatine kinase, and rippling muscle disease manifestations 45. Patients develop hyperphagic behavior, insulin resistance, hepatic steatosis, and cardiac arrhythmias 5. CAVIN1 mutations are inherited autosomal recessively in rippling muscle disease 4. The pleiotropic effects reflect CAVIN1's broad tissue expression and roles in mechanosensing, stress response, and exosome secretion 1.

Sources cited
1
CAVIN1 is essential for caveolae formation and functions as a master regulator with roles in ribosomal transcription, mechanosensing, and stress response
PMID: 31922193
2
CAVIN1 mediates hERG potassium channel translocation from plasma membrane to cytoskeleton, regulating cardiac repolarization and drug sensitivity
PMID: 38682330
3
CAVIN1 exhibits higher expression in type 2 skeletal muscle fibers compared to type 1
PMID: 39786556
4
CAVIN1/PTRF pathogenic variants are autosomal recessive causes of rippling muscle disease associated with CGL type 4 and extra-skeletal manifestations
PMID: 39370631
5
CAVIN1 mutations cause CGL4 with adipose tissue loss, muscular dystrophy, myopathy, elevated CK, cardiac arrhythmias, and hyperphagic behavior
PMID: 37501786
6
CAVIN1-related generalized lipodystrophy is associated with metabolic complications including hypertriglyceridemia, insulin resistance, and hepatic steatosis
PMID: 34562560
Disease Associationsβ“˜21
congenital generalized lipodystrophy type 4Open Targets
0.73Strong
Generalized congenital lipodystrophy with myopathyOpen Targets
0.66Moderate
lipodystrophyOpen Targets
0.38Weak
congenital generalized lipodystrophyOpen Targets
0.34Weak
monogenic diabetesOpen Targets
0.17Weak
breast carcinomaOpen Targets
0.17Weak
glioblastoma multiformeOpen Targets
0.10Weak
gliomaOpen Targets
0.10Weak
atopic eczemaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
Crohn's diseaseOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
peripheral arterial diseaseOpen Targets
0.07Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Lipodystrophy, congenital generalized, 4UniProt
Pathogenic Variants16
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)Pathogenic
Congenital generalized lipodystrophy type 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 173
NM_012232.6(CAVIN1):c.462del (p.Met154fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 154
NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)Pathogenic
Congenital generalized lipodystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 47
NM_012232.6(CAVIN1):c.1061_1091del (p.Glu354fs)Likely pathogenic
Congenital generalized lipodystrophy type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 354
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 233
NM_012232.6(CAVIN1):c.459_462delinsAAT (p.Met154fs)Likely pathogenic
CAVIN1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 154
NM_012232.6(CAVIN1):c.199C>T (p.Gln67Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 67
NM_012232.6(CAVIN1):c.512C>A (p.Ser171Ter)Likely pathogenic
Congenital generalized lipodystrophy type 4
β˜…β˜†β˜†β˜†β†’ Residue 171
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)Likely pathogenic
Congenital generalized lipodystrophy type 4
β˜…β˜†β˜†β˜†β†’ Residue 184
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2023β†’ Residue 87
NM_012232.6(CAVIN1):c.160del (p.Val54fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2017β†’ Residue 54
NM_012232.6(CAVIN1):c.471+1G>TPathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2010
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2010β†’ Residue 161
NM_012232.6(CAVIN1):c.135del (p.Lys45fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2010β†’ Residue 45
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2010β†’ Residue 122
NM_012232.6(CAVIN1):c.526del (p.Glu176fs)Pathogenic
Congenital generalized lipodystrophy type 4
β˜†β˜†β˜†β˜†2009β†’ Residue 176
View on ClinVar β†—
Related Genes
AGPAT2Protein interaction100%EGFRProtein interaction98%CAV1Protein interaction92%CAV2Protein interaction92%CAV3Protein interaction92%DYSFProtein interaction89%
Tissue Expression6 tissues
Heart
100%
Lung
97%
Ovary
81%
Brain
11%
Liver
10%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
CAVIN1AGPAT2EGFRCAV1CAV2CAV3DYSF
PROTEIN STRUCTURE
Preparing viewer…
PDB9EGN Β· 1.57 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.49–1.09]
RankingsWhere CAVIN1 stands among ~20K protein-coding genes
  • #2,617of 20,598
    Most Researched169 Β· top quartile
  • #2,385of 5,498
    Most Pathogenic Variants16
  • #11,119of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedCAVIN1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
The spectrum of rippling muscle disease.
PMID: 39370631
Muscle Nerve Β· 2025
0.90
3
CD_99 G1 neutrophils modulate osteogenic differentiation of mesenchymal stem cells in the pathological process of ankylosing spondylitis.
PMID: 37977819
Ann Rheum Dis Β· 2024
0.80
4
A new mutation in the
PMID: 37501786
Front Endocrinol (Lausanne) Β· 2023
0.70
5
Proteomics of colorectal tumors identifies the role of CAVIN1 in tumor relapse.
PMID: 40269326
Mol Syst Biol Β· 2025
0.68