Gene table of CAV1 : caveolin 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with CAV1OMIM linkNumber of associated genesgenes
PS178600PULMONARY HYPERTENSION, PRIMARYOMIM link to OMIM 5SMAD9, KCNK3, KCNA5, CAV1, BMPR2
606721PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROMEOMIM link to OMIM 1CAV1
PS608594LIPODYSTROPHY, CONGENITAL GENERALIZEDClinVar, OMIM link to OMIM 4BSCL2, PTRF, AGPAT2, CAV1

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Annotation of the gene CAV1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Proteoglycans in cancerhsa052055.02
Viral myocarditishsa054166.45
Bacterial invasion of epithelial cellshsa051006.34
Endocytosishsa041444.92
Focal adhesionhsa045104.92
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
eNOS activationR-HSA-2036159.98
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysisR-HSA-1635608.66
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Basigin interactionsR-HSA-2109918.34
Signaling by VEGFR-HSA-1941384.66
eNOS activation and regulationR-HSA-2037658.81
Metabolism of nitric oxideR-HSA-2021318.81
disassembly of the destruction complex and recruitment of AXIN to the membraneR-HSA-46412628.03
Signaling by WntR-HSA-1957214.79
MetabolismR-HSA-14307282.34
NOSTRIN mediated eNOS traffickingR-HSA-20364110.66
Lipid digestion, mobilization, and transportR-HSA-739237.2
TCF dependent signaling in response to WNTR-HSA-2016815.36
VEGFR2 mediated vascular permeabilityR-HSA-52189208.28
Cell surface interactions at the vascular wallR-HSA-2027336.32
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
RNA polymerase I transcription factor bindingGO:00011799.05
Rho GTPase bindingGO:00170485.36
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
small molecule bindingGO:00360941.89
bindingGO:00054880.18
ion channel bindingGO:00443255.02
molecular function regulatorGO:00987722.51
potassium channel inhibitor activityGO:00198707.66
SNARE bindingGO:00001494.87
structural molecule activityGO:00051983.1
protein complex scaffoldGO:00329475.5
channel inhibitor activityGO:00162486.13
channel regulator activityGO:00162474.88
patched bindingGO:00051137.66
potassium channel regulator activityGO:00154595.93
identical protein bindingGO:00428022.63
sterol bindingGO:00329345.98
ATPase bindingGO:00511175.41
enzyme regulator activityGO:00302342.85
peptidase regulator activityGO:00611344.37
inward rectifier potassium channel inhibitor activityGO:00703209.74
lipid bindingGO:00082893.26
Ras GTPase bindingGO:00170164.2
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
syntaxin bindingGO:00199055.19
enzyme bindingGO:00198992.27
steroid bindingGO:00054965.24
ion channel inhibitor activityGO:00082006.15
receptor bindingGO:00051022.43
transcription factor bindingGO:00081343.46
binding, bridgingGO:00600904.57
nitric-oxide synthase bindingGO:00509986.91
protein binding, bridgingGO:00306744.68
cholesterol bindingGO:00154856.1
alcohol bindingGO:00431785.53
organic cyclic compound bindingGO:00971591.05
Rac GTPase bindingGO:00483656.05
protein bindingGO:00055150.46
MDM2/MDM4 family protein bindingGO:00973717.95
peptidase activator activityGO:00165046.13
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
enzyme activator activityGO:00080473.56