CAV1

Summary

CAV1 (caveolin 1, HGNC:1527) is a protein-coding gene on chromosome 7q31.2, encoding Caveolin-1 (Q03135). May act as a scaffolding protein within caveolar membranes.

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.

Source: NCBI Gene 857 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pulmonary arterial hypertension (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 71
• Clinical variants (ClinVar): 199 total — 10 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 106
• Druggable target: yes
• MANE Select transcript: NM_001753

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1527
Approved symbol	CAV1
Name	caveolin 1
Location	7q31.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000105974
Ensembl biotype	protein_coding
OMIM	601047
Entrez	857

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000341049, ENST00000393467, ENST00000393468, ENST00000393470, ENST00000405348, ENST00000451122, ENST00000456473, ENST00000489856, ENST00000614113, ENST00000933877

RefSeq mRNA: 4 — MANE Select: NM_001753 NM_001172895, NM_001172896, NM_001172897, NM_001753

CCDS: CCDS55156, CCDS5767

Canonical transcript exons

ENST00000341049 — 3 exons

Exon	Start	End
ENSE00001085899	116525036	116525092
ENSE00001559093	116558946	116561179
ENSE00003640071	116526525	116526689

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 315.8302 / max 4176.3468, expressed in 1507 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80631	169.1054	1474
80622	72.9060	1295
80623	59.2067	1246
80624	2.9747	1009
80629	2.0041	746
80645	1.5530	657
80625	1.0957	572
80646	0.9567	452
80640	0.8619	522
80628	0.8250	453

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	99.78	gold quality
lower lobe of lung	UBERON:0008949	99.78	gold quality
pleura	UBERON:0000977	99.66	gold quality
skin of hip	UBERON:0001554	99.62	gold quality
endometrium epithelium	UBERON:0004811	99.62	gold quality
synovial joint	UBERON:0002217	99.56	gold quality
visceral pleura	UBERON:0002401	99.52	gold quality
adipose tissue	UBERON:0001013	99.45	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.44	gold quality
right lung	UBERON:0002167	99.43	gold quality
blood vessel layer	UBERON:0004797	99.43	gold quality
calcaneal tendon	UBERON:0003701	99.39	gold quality
vena cava	UBERON:0004087	99.39	gold quality
urethra	UBERON:0000057	99.37	gold quality
saphenous vein	UBERON:0007318	99.36	gold quality
cartilage tissue	UBERON:0002418	99.34	gold quality
connective tissue	UBERON:0002384	99.32	gold quality
adult organism	UBERON:0007023	99.31	gold quality
cauda epididymis	UBERON:0004360	99.29	gold quality
lung	UBERON:0002048	99.27	gold quality
germinal epithelium of ovary	UBERON:0001304	99.26	gold quality
superficial temporal artery	UBERON:0001614	99.25	gold quality
right coronary artery	UBERON:0001625	99.19	gold quality
smooth muscle tissue	UBERON:0001135	99.17	gold quality
mammary duct	UBERON:0001765	99.16	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.16	gold quality
popliteal artery	UBERON:0002250	99.15	gold quality
tibial artery	UBERON:0007610	99.15	gold quality
peritoneum	UBERON:0002358	99.13	gold quality
omental fat pad	UBERON:0010414	99.13	gold quality

Single-cell (SCXA)

Detected in 35 experiment(s), a significant marker in 34.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	5530.87
E-MTAB-6653	yes	4628.21
E-HCAD-15	yes	4028.47
E-HCAD-24	yes	3966.80
E-GEOD-124263	yes	3014.61
E-MTAB-8322	yes	2485.50
E-MTAB-6701	yes	2395.77
E-MTAB-8221	yes	2380.50
E-MTAB-10885	yes	2376.52
E-MTAB-8410	yes	2183.11
E-MTAB-9841	yes	2107.91
E-MTAB-10855	yes	1853.22
E-MTAB-10287	yes	1757.10
E-GEOD-135922	yes	1387.61
E-CURD-46	yes	1360.37

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
GJA1	Activation

Upstream regulators (CollecTRI, top): AR, ATF3, CUX1, E2F1, E2F4, EGR1, ELK3, ESR1, ESR2, ETV4, ETV5, EWSR1, FOXO1, FOXO3, GATA6, KDM5B, KLF11, MYC, MYCN, NCOA2, NFE2L2, NFKB, NR3C1, PPARA, PPARG, RELA, SKIL, SP1, SREBF1, STAT3, TFDP1, TP53, ZNF91

miRNA regulators (miRDB)

130 targeting CAV1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-605-3P	99.88	69.22	1833

Literature-anchored findings (GeneRIF, showing 40)

• Caveolin-1 expression enhances endothelial capillary tubule formation (PMID:11748236)
• CAV1 was found in liver endothelial cells and in Kupffer cells (liver non-parenchymal cells). (PMID:11845324)
• forms a cholesterol complex and transports it from the endoplasmic reticulum to the cell membrane; activates signal transduction molecules (PMID:11915322)
• over-expression is associated with lymph node metastasis and worse prognosis after surgery in esophageal squamous cell carcinoma (PMID:11920460)
• Neu3 functions as a caveolin-related signaling molecule within caveolin-rich microdomains (PMID:12011038)
• Data show that ER alpha and not ER beta silences caveolin-1/-2 expression in an epigenetic fashion in neuronal cells. (PMID:12138116)
• Some protein tyrosine phosphatases form molecular complexes with caveolin-1 in lipid rafts (PMID:12176037)
• regulation of expression and secretion by a protein kinase c epsilon signaling pathway in human prostate cancer cells (PMID:12185081)
• data show that coexpression of caveolin can markedly inhibit expression of HIV proviral DNA and establish that the inhibition is mediated by the hydrophobic, membrane-associated domain (PMID:12186899)
• Data show that IL-6/raft/STAT3 signaling is a chaperoned pathway that involves caveolin-1 and HSP90 as accessory proteins and suggest a mechanism for the preservation of this signaling during fever. (PMID:12235142)
• both the caveolin-1/EGFR association and EGF-induced tyrosine phosphorylation of caveolin-1 are modulated by ganglioside GM3 (PMID:12354760)
• Endostatin associates with integrin alpha5beta1 and caveolin-1, and activates Src via a tyrosyl phosphatase-dependent pathway in human endothelial cells. (PMID:12359771)
• data clearly implicate loss of functional Cav-1 in the pathogenesis of mammary epithelial cell hyperplasia (PMID:12368209)
• Caveolin-1 phosphorylation in human squamous cell carcinoma is dependent on ErbB1 expression and Src activation. (PMID:12372346)
• In the cerebral cortex caveolin-1 is expressed by all the cell types that form the vascular wall, endothelial cells, pericytes, and vascular astrocytes in vivo. (PMID:12401329)
• Up-regulated caveolin-1 accentuates the metastasis capability of lung adenocarcinoma by inducing filopodia formation. (PMID:12414512)
• basal and SR-BI-stimulated free cholesterol efflux to HDL and liposomes and SR-BI-mediated selective uptake of HDL cholesteryl ester are not affected by caveolin-1 expression (PMID:12562842)
• Caveolae plays a role in signal-transducing function of cardiac Na+/K+-ATPase. (PMID:12606314)
• caveolin-1 may play a role in lamellar granule assembly, trafficking, and/or function. (PMID:12648214)
• interacts with endothlin b receptor (PMID:12694195)
• ERalpha co-activator caveolin is negatively regulated by the steroid receptor itself (PMID:12711000)
• Caveolin-1 may modify the biosynthetic pathway of sugar chains via the regulation of the intra-Golgi subcompartment localization of N-acetylglucosaminyltransferase III (PMID:12716887)
• caveolin has a role in recovery from cell sensecence (PMID:12730243)
• Caveolin-1 contributes to assembly of store-operated Ca2+ influx channels by regulating plasma membrane localization of TRPC1. (PMID:12732636)
• Caveolin-1 expression is an independent positive prognostic factor for survival in extrahepatic bile duct carcinoma. (PMID:12737162)
• A statistically significant difference in the expression of caveolin-1 between oncocytoma with a mean labeling index of 91.7 and other malignant renal tumors with a lower mean labeling index possibly implicates this peptide in oncocytoma pathogenesis. (PMID:12810205)
• PPARgamma & caveolin-1 may coexist in a complex. PPARgamma participates in the regulation of caveolin gene expression in human carcinoma cells. Caveolin-1 may mediate some of the phenotypic changes induced by PPAR-G in cancer cells. (PMID:12813462)
• Caveolin-1 is an inhibitor of platelet-derived growth factor (PDGF) proliferative responses and might be capable of transforming PDGF-induced proliferative signals into death signals. (PMID:12816877)
• CAV-1 gene can be inactivated through mutations and does not play a role in the development of cervical cancer (PMID:12888893)
• cytoplasmic overexpression of caveolin-1 predicts a poor prognosis in renal cell carcinoma (PMID:14612902)
• Akt activities are largely responsible for cav-1-mediated cell survival (PMID:14645548)
• caveolin-1 has a role in mediating astrocyte responses to MCP-1 (PMID:14660607)
• negative regulation of caveolin-1 plays a central role in the complex cellular changes leading to metastasis (PMID:14706341)
• caveolin-1 associates with CD147, in a complex distinct from CD147-alpha(3) integrin complexes, thereby diminishing both CD147 clustering and CD147-dependent MMP-1-inducing activity (PMID:14707126)
• inactivation of Caveolin-1 by a mutation or by reduced expression may play a role in the pathogenesis of oral cancer (PMID:14719121)
• overexpression of caveolin-1 in hepatic cells stimulates cholesterol efflux by enhancing transfer of cholesterol to cholesterol-rich domains in the plasma membrane. (PMID:14729661)
• Ouabain assembles signaling cascades through the caveolar Na+/K+-ATPase. (PMID:14963033)
• Cav-1 haploinsufficiency in human breast epithelial cells can lead to partial transformation. (PMID:14981899)
• Nitric oxide concentrations could impact on capillary formation via a combination of direct effects on MMP activation and by altering the distribution or abundance of Cav-1 in tumor angiogenesis. (PMID:15064242)
• caveolin-1 is overexpressed in experimental colon adenocarcinoma by comparison to adjacent normal mucosa, and its expression in human colon cancer cells is directly associated with the growth rate (PMID:15069532)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cav1	ENSDARG00000103747
mus_musculus	Cav1	ENSMUSG00000007655
rattus_norvegicus	Cav1	ENSRNOG00000056836
caenorhabditis_elegans		WBGENE00000301
caenorhabditis_elegans		WBGENE00000302

Paralogs (2): CAV2 (ENSG00000105971), CAV3 (ENSG00000182533)

Protein

Protein identifiers

Caveolin-1 — Q03135 (reviewed: Q03135)

All UniProt accessions (6): Q03135, A0A7P0YWJ6, C9JKI3, E9PCT5, F8WDM7, Q2TNI1

UniProt curated annotations — full annotation on UniProt →

Function. May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation. Binds 20(S)-hydroxycholesterol (20(S)-OHC).

Subunit / interactions. Homooligomer. Interacts with GLIPR2. Interacts with NOSTRIN. Interacts with SNAP25 and STX1A. Interacts (via the N-terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP. Interacts with PACSIN2; this interaction induces membrane tubulation. Interacts with SLC7A9. Interacts with BMX and BTK. Interacts with TGFBR1. Interacts with CAVIN3 (via leucine-zipper domain) in a cholesterol-sensitive manner. Interacts with CAVIN1. Interacts with EHD2 in a cholesterol-dependent manner. Forms a ternary complex with UBXN6 and VCP; mediates CAV1 targeting to lysosomes for degradation. Interacts with ABCG1; this interaction regulates ABCG1-mediated cholesterol efflux. Interacts with NEU3; this interaction enhances NEU3 sialidase activity within caveola. Interacts (via C-terminus) with SPRY1, SPRY2 (via C-terminus), SPRY3, and SPRY4. Interacts with IGFBP5; this interaction allows trafficking of IGFBP5 from the plasma membrane to the nucleus. (Microbial infection) Interacts with rotavirus A NSP4. (Microbial infection) Interacts with human respiratory syncytial virus (HRSV) matrix protein; this interaction probably facilitates viral budding.

Subcellular location. Golgi apparatus membrane. Cell membrane. Membrane. Caveola. Membrane raft. Golgi apparatus. trans-Golgi network. Cytoplasm.

Tissue specificity. Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Expressed in the brain.

Post-translational modifications. Ubiquitinated. Undergo monoubiquitination and multi- and/or polyubiquitination. Monoubiquitination of N-terminal lysines promotes integration in a ternary complex with UBXN6 and VCP which promotes oligomeric CAV1 targeting to lysosomes for degradation. Ubiquitinated by ZNRF1; leading to degradation and modulation of the TLR4-mediated immune response. The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated. Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress.

Disease relevance. Lipodystrophy, congenital generalized, 3 (CGL3) [MIM:612526] A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Pulmonary hypertension, primary, 3 (PPH3) [MIM:615343] A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. The disease is caused by variants affecting the gene represented in this entry. Lipodystrophy, familial partial, 7 (FPLD7) [MIM:606721] A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the caveolin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q03135-1	1	yes
Q03135-2	2

RefSeq proteins (4): NP_001166366, NP_001166367, NP_001166368, NP_001744* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001612	Caveolin	Family
IPR018361	Caveolin_CS	Conserved_site

Pfam: PF01146

UniProt features (44 total): modified residue 10, helix 7, cross-link 6, region of interest 5, lipid moiety-binding region 3, initiator methionine 2, topological domain 2, sequence conflict 2, strand 2, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1, intramembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7SC0	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q03135-F1	78.60	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (19): 2, 2, 5, 6, 9, 14, 25, 37, 133, 143, 156, 5, 26, 30, 39, 47, 57, 2, 6

Mutagenesis-validated functional residues (1):

Position	Phenotype
39	resistance to znrf1-mediated degradation.

Function

Pathways and Gene Ontology

Reactome pathways

56 pathways

ID	Pathway
R-HSA-163560	Triglyceride catabolism
R-HSA-203615	eNOS activation
R-HSA-203641	NOSTRIN mediated eNOS trafficking
R-HSA-209968	Thyroxine biosynthesis
R-HSA-210991	Basigin interactions
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5218920	VEGFR2 mediated vascular permeability
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9009391	Extra-nuclear estrogen signaling
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-9035034	RHOF GTPase cycle
R-HSA-9617828	FOXO-mediated transcription of cell cycle genes
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle
R-HSA-9735871	SARS-CoV-1 targets host intracellular signalling and regulatory pathways
R-HSA-9755779	SARS-CoV-2 targets host intracellular signalling and regulatory pathways
R-HSA-109582	Hemostasis
R-HSA-1430728	Metabolism
R-HSA-162582	Signal Transduction

MSigDB gene sets: 1097 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, REACTOME_TRIGLYCERIDE_CATABOLISM, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_52, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, ZHAN_LATE_DIFFERENTIATION_GENES_UP, GOBP_MAMMARY_GLAND_MORPHOGENESIS

GO Biological Process (99): negative regulation of transcription by RNA polymerase II (GO:0000122), MAPK cascade (GO:0000165), angiogenesis (GO:0001525), vasculogenesis (GO:0001570), response to hypoxia (GO:0001666), endothelial cell proliferation (GO:0001935), negative regulation of endothelial cell proliferation (GO:0001937), negative regulation of cytokine-mediated signaling pathway (GO:0001960), glandular epithelial cell differentiation (GO:0002067), response to ischemia (GO:0002931), regulation of the force of heart contraction by chemical signal (GO:0003057), triglyceride metabolic process (GO:0006641), nitric oxide biosynthetic process (GO:0006809), calcium ion transport (GO:0006816), intracellular calcium ion homeostasis (GO:0006874), regulation of smooth muscle contraction (GO:0006940), skeletal muscle tissue development (GO:0007519), lactation (GO:0007595), intracellular protein localization (GO:0008104), cellular response to starvation (GO:0009267), response to bacterium (GO:0009617), positive regulation of calcium ion transport into cytosol (GO:0010524), post-transcriptional regulation of gene expression (GO:0010608), positive regulation of gene expression (GO:0010628), positive regulation of cholesterol efflux (GO:0010875), protein transport (GO:0015031), vesicle organization (GO:0016050), receptor-mediated endocytosis of virus by host cell (GO:0019065), regulation of fatty acid metabolic process (GO:0019217), cytokine-mediated signaling pathway (GO:0019221), lipid storage (GO:0019915), cell differentiation (GO:0030154), regulation of blood coagulation (GO:0030193), cholesterol transport (GO:0030301), positive regulation of cell migration (GO:0030335), negative regulation of BMP signaling pathway (GO:0030514), negative regulation of epithelial cell differentiation (GO:0030857), mammary gland development (GO:0030879), T cell costimulation (GO:0031295), negative regulation of protein ubiquitination (GO:0031397)

GO Molecular Function (21): signaling receptor binding (GO:0005102), patched binding (GO:0005113), oxysterol binding (GO:0008142), cholesterol binding (GO:0015485), peptidase activator activity (GO:0016504), enzyme binding (GO:0019899), protein kinase binding (GO:0019901), protein tyrosine kinase inhibitor activity (GO:0030292), protein-macromolecule adaptor activity (GO:0030674), small GTPase binding (GO:0031267), nitric-oxide synthase inhibitor activity (GO:0036487), identical protein binding (GO:0042802), transmembrane transporter binding (GO:0044325), protein-containing complex binding (GO:0044877), protein heterodimerization activity (GO:0046982), nitric-oxide synthase binding (GO:0050998), ATPase binding (GO:0051117), molecular adaptor activity (GO:0060090), inward rectifier potassium channel inhibitor activity (GO:0070320), protein sequestering activity (GO:0140311), protein binding (GO:0005515)

GO Cellular Component (22): Golgi membrane (GO:0000139), acrosomal membrane (GO:0002080), caveolar macromolecular signaling complex (GO:0002095), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), lipid droplet (GO:0005811), plasma membrane (GO:0005886), caveola (GO:0005901), focal adhesion (GO:0005925), cilium (GO:0005929), cell cortex (GO:0005938), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), endocytic vesicle membrane (GO:0030666), cytoplasmic vesicle (GO:0031410), early endosome membrane (GO:0031901), protein-containing complex (GO:0032991), membrane raft (GO:0045121), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
RHO GTPase cycle	12
Metabolism of nitric oxide: NOS3 activation and regulation	2
Triglyceride metabolism	1
Metabolism of amine-derived hormones	1
Cell surface interactions at the vascular wall	1
TCF dependent signaling in response to WNT	1
VEGFA-VEGFR2 Pathway	1
ESR-mediated signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	6
cytoplasm	4
endomembrane system	3
blood vessel morphogenesis	2
response to stress	2
sterol binding	2
binding	2
enzyme binding	2
bounding membrane of organelle	2
intracellular membrane-bounded organelle	2
cell periphery	2
plasma membrane region	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
intracellular signaling cassette	1
anatomical structure formation involved in morphogenesis	1
cell differentiation	1
response to decreased oxygen levels	1
epithelial cell proliferation	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
negative regulation of epithelial cell proliferation	1
regulation of cytokine-mediated signaling pathway	1
negative regulation of signal transduction	1
cytokine-mediated signaling pathway	1
negative regulation of response to cytokine stimulus	1
columnar/cuboidal epithelial cell differentiation	1
regulation of the force of heart contraction	1
acylglycerol metabolic process	1
biosynthetic process	1
nitric oxide metabolic process	1
metal ion transport	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
regulation of muscle contraction	1
smooth muscle contraction	1
striated muscle tissue development	1
skeletal muscle organ development	1
body fluid secretion	1

Protein interactions and networks

STRING

5352 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAV1	CAVIN1	Q6NZI2	997
CAV1	NOS3	P29474	995
CAV1	SRC	P12931	994
CAV1	ESR1	P03372	992
CAV1	DPP4	P27487	991
CAV1	EGFR	P00533	987
CAV1	CAV2	P51636	985
CAV1	CALML3	P27482	981
CAV1	CALML5	Q9NZT1	981
CAV1	CALML6	Q8TD86	979
CAV1	CALML4	Q96GE6	979
CAV1	BSG	P35613	966
CAV1	HRAS	P01112	965
CAV1	IGF1R	P08069	963
CAV1	CALM1	P02593	960

IntAct

320 interactions, top by confidence:

A	B	Type	Score
PAK1	RAC1	psi-mi:“MI:0914”(association)	0.980
CAV1	EGFR	psi-mi:“MI:0915”(physical association)	0.810
EGFR	CAV1	psi-mi:“MI:0915”(physical association)	0.810
EGFR	GAPDH	psi-mi:“MI:0914”(association)	0.790
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CAV1	rep	psi-mi:“MI:0915”(physical association)	0.660
CAVIN3	CAV1	psi-mi:“MI:0914”(association)	0.650
CAV1	CAVIN3	psi-mi:“MI:0915”(physical association)	0.650
CAV1	RAC1	psi-mi:“MI:0915”(physical association)	0.640
STIM1	TRPC1	psi-mi:“MI:0914”(association)	0.640
CAV1	CAVIN1	psi-mi:“MI:0915”(physical association)	0.640
CAV1	CAVIN1	psi-mi:“MI:0914”(association)	0.640
CAVIN1	CAV1	psi-mi:“MI:0914”(association)	0.640
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
CAVIN1	CAV1	psi-mi:“MI:0915”(physical association)	0.640
PROCR	F2R	psi-mi:“MI:0914”(association)	0.640
TRPC1	CAV1	psi-mi:“MI:0914”(association)	0.630
TRPC1	CAV1	psi-mi:“MI:0407”(direct interaction)	0.630
TRPC1	CAV1	psi-mi:“MI:0915”(physical association)	0.630

BioGRID (1001): ABCC1 (Affinity Capture-Western), TFRC (Affinity Capture-Western), CAV1 (Affinity Capture-RNA), CAV1 (Affinity Capture-RNA), CAV1 (Affinity Capture-Western), CAV1 (Co-fractionation), CAV1 (Two-hybrid), CAV1 (Co-localization), CAV1 (Co-fractionation), CAV1 (Affinity Capture-Western), PPARG (Affinity Capture-Western), CAV1 (Protein-peptide), CAV1 (Two-hybrid), VAV2 (Affinity Capture-Western), CAV1 (Affinity Capture-Western)

ESM2 similar proteins: A0M8R5, A0M8R6, A0M8S6, A1X148, O46550, P41350, P51636, Q00PK0, Q03135, Q07DV9, Q07DW0, Q07DX2, Q07DY2, Q07DZ2, Q07DZ3, Q07E26, Q07E39, Q07E50, Q09YH8, Q09YH9, Q09YJ1, Q09YK2, Q09YL4, Q09YN7, Q108U8, Q2IBA4, Q2IBA5, Q2IBC1, Q2IBC2, Q2IBC5, Q2IBD6, Q2IBD7, Q2IBF0, Q2IBF3, Q2IBG9, Q2QL80, Q2QL91, Q2QLB1, Q2QLC1, Q2QLC2

Diamond homologs: A0M8R5, A0M8R6, A0M8S6, A0M8S7, A1X148, A1X149, O46550, P33724, P35431, P41350, P49817, P51636, P51637, P51638, P56539, P79132, Q00PJ9, Q00PK0, Q03135, Q07DV9, Q07DW0, Q07DX1, Q07DX2, Q07DY2, Q07DZ2, Q07DZ3, Q07E02, Q07E25, Q07E26, Q07E38, Q07E39, Q07E49, Q07E50, Q09YH8, Q09YH9, Q09YJ1, Q09YK1, Q09YK2, Q09YL4, Q09YN6

SIGNOR signaling

19 interactions.

A	Effect	B	Mechanism
FYN	“down-regulates activity”	CAV1	phosphorylation
SRC	“down-regulates activity”	CAV1	phosphorylation
CAV1	up-regulates	LRP6	binding
NR3C1	up-regulates	CAV1	binding
CAV1	“up-regulates activity”	HMGA1	relocalization
CAV1	“up-regulates quantity”	ANXA3	relocalization
CAV1	“up-regulates quantity”	“Fatty acid”	relocalization
CAV1	“down-regulates activity”	SLC1A1	binding
CAV1	“down-regulates activity”	SLC1A3	binding
CAV1	“down-regulates activity”	SLC1A2	binding
CAV1	“down-regulates activity”	SLC1A6	binding
ZNRF1	“down-regulates quantity by destabilization”	CAV1	polyubiquitination
PTPN14	“down-regulates activity”	CAV1	dephosphorylation
PRKN	“down-regulates quantity”	CAV1	ubiquitination
MET	“up-regulates activity”	CAV1	phosphorylation
EPHB1	“down-regulates quantity by destabilization”	CAV1	phosphorylation
PTPN1	unknown	CAV1	dephosphorylation
CSNK2A1	unknown	CAV1	phosphorylation
CSNK2A2	unknown	CAV1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 159 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
VEGFR2 mediated vascular permeability	5	20.0×	9e-04
EPHB-mediated forward signaling	5	13.0×	3e-03
EPH-ephrin mediated repulsion of cells	6	12.9×	1e-03
RHOQ GTPase cycle	7	12.4×	5e-04
Regulation of actin dynamics for phagocytic cup formation	6	10.8×	2e-03
RHOJ GTPase cycle	5	9.8×	6e-03
FCGR3A-mediated phagocytosis	5	9.2×	8e-03
RHOB GTPase cycle	6	9.1×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of release of sequestered calcium ion into cytosol	5	20.0×	5e-03
epidermal growth factor receptor signaling pathway	6	12.0×	5e-03
protein modification process	6	11.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

199 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	3
Uncertain significance	77
Likely benign	80
Benign	14

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
128609	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	Pathogenic
1685602	NM_001753.5(CAV1):c.368_369del (p.Ser123fs)	Pathogenic
204324	NM_001753.5(CAV1):c.400del (p.Ile134fs)	Pathogenic
208669	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	Pathogenic
209106	NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)	Pathogenic
2443747	NM_001753.5(CAV1):c.237_238del (p.His79fs)	Pathogenic
56967	NM_001753.5(CAV1):c.474del (p.Leu159fs)	Pathogenic
56968	NM_001753.5(CAV1):c.473del (p.Pro158fs)	Pathogenic
59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	Pathogenic
8467	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	Pathogenic
1493101	NM_001753.5(CAV1):c.446_447insT (p.Ile150fs)	Likely pathogenic
2631155	NM_001753.5(CAV1):c.396dup (p.Cys133fs)	Likely pathogenic
3065015	NM_001753.5(CAV1):c.436del (p.Arg146fs)	Likely pathogenic

SpliceAI

690 predictions. Top by Δscore:

Variant	Effect	Δscore
7:116526461:A:AG	acceptor_gain	1.0000
7:116526462:T:G	acceptor_gain	1.0000
7:116526475:C:A	acceptor_gain	1.0000
7:116526478:C:A	acceptor_gain	1.0000
7:116526686:CAAGG:C	donor_loss	1.0000
7:116526687:AAGG:A	donor_loss	1.0000
7:116526688:AG:A	donor_gain	1.0000
7:116526688:AGG:A	donor_loss	1.0000
7:116526689:GG:G	donor_gain	1.0000
7:116526689:GGT:G	donor_loss	1.0000
7:116526690:G:GA	donor_loss	1.0000
7:116526690:G:GG	donor_gain	1.0000
7:116526691:T:A	donor_loss	1.0000
7:116558942:TTAG:T	acceptor_loss	1.0000
7:116558943:TA:T	acceptor_loss	1.0000
7:116558944:AGAT:A	acceptor_loss	1.0000
7:116558945:GATT:G	acceptor_gain	1.0000
7:116526458:T:TA	acceptor_gain	0.9900
7:116526473:A:AG	acceptor_gain	0.9900
7:116526473:ACC:A	acceptor_gain	0.9900
7:116526474:C:G	acceptor_gain	0.9900
7:116526484:C:A	acceptor_gain	0.9900
7:116526520:T:TA	acceptor_gain	0.9900
7:116526521:GCAGG:G	acceptor_loss	0.9900
7:116526523:A:AG	acceptor_gain	0.9900
7:116526523:AG:A	acceptor_gain	0.9900
7:116526523:AGGGA:A	acceptor_loss	0.9900
7:116526524:G:C	acceptor_loss	0.9900
7:116526524:G:GG	acceptor_gain	0.9900
7:116526524:GG:G	acceptor_gain	0.9900

AlphaMissense

1195 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:116526654:C:A	R54S	1.000
7:116559012:A:C	S88R	1.000
7:116559014:C:A	S88R	1.000
7:116559014:C:G	S88R	1.000
7:116558952:T:C	F68L	0.999
7:116558953:T:G	F68C	0.999
7:116558954:T:A	F68L	0.999
7:116558954:T:G	F68L	0.999
7:116558988:A:C	S80R	0.999
7:116558990:T:A	S80R	0.999
7:116558990:T:G	S80R	0.999
7:116559003:T:A	W85R	0.999
7:116559003:T:C	W85R	0.999
7:116559005:G:C	W85C	0.999
7:116559005:G:T	W85C	0.999
7:116559024:T:C	F92L	0.999
7:116559026:C:A	F92L	0.999
7:116559026:C:G	F92L	0.999
7:116559073:G:A	G108D	0.999
7:116559096:G:C	G116R	0.999
7:116559097:G:A	G116D	0.999
7:116559132:T:A	W128R	0.999
7:116559132:T:C	W128R	0.999
7:116559145:C:A	P132Q	0.999
7:116526654:C:G	R54G	0.998
7:116526654:C:T	R54C	0.998
7:116526655:G:C	R54P	0.998
7:116526657:G:C	D55H	0.998
7:116526658:A:G	D55G	0.998
7:116558953:T:C	F68S	0.998

dbSNP variants (sampled 300 via entrez): RS1000073713 (7:116523332 T>G), RS1000121999 (7:116531530 A>C), RS1000155120 (7:116546652 G>A), RS1000173872 (7:116549364 A>T), RS1000280802 (7:116556183 G>A), RS1000314644 (7:116540716 G>A), RS1000328738 (7:116543563 G>A), RS1000377249 (7:116543231 A>G), RS1000392718 (7:116549688 A>T), RS1000430117 (7:116531802 C>T), RS1000587005 (7:116534418 G>A,T), RS1000650014 (7:116542472 T>A), RS1000673336 (7:116556219 T>G), RS1000726848 (7:116548061 T>C), RS1000760560 (7:116549428 G>A)

Disease associations

OMIM: gene MIM:601047 | disease phenotypes: MIM:615343, MIM:606721, MIM:612526, MIM:616738

GenCC curated gene-disease

Disease	Classification	Inheritance
pulmonary hypertension, primary, 3	Strong	Autosomal dominant
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	Strong	Autosomal dominant
congenital generalized lipodystrophy type 3	Moderate	Autosomal dominant
heritable pulmonary arterial hypertension	Supportive	Autosomal dominant
Berardinelli-Seip congenital lipodystrophy	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (4)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
pulmonary arterial hypertension	Definitive	AD
lipodystrophy	Limited	AD
congenital generalized lipodystrophy type 3	Definitive	AR
amyotrophic lateral sclerosis	Limited	AD

Mondo (9): renal cell carcinoma (MONDO:0005086), pulmonary hypertension, primary, 3 (MONDO:0014135), partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (MONDO:0011714), congenital generalized lipodystrophy type 3 (MONDO:0012923), radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MONDO:0014758), monogenic diabetes (MONDO:0015967), amyotrophic lateral sclerosis (MONDO:0004976), heritable pulmonary arterial hypertension (MONDO:0017148), Berardinelli-Seip congenital lipodystrophy (MONDO:0018883)

Orphanet (8): Renal cell carcinoma (Orphanet:217071), Idiopathic/heritable pulmonary arterial hypertension (Orphanet:422), Congenital generalized lipodystrophy (Orphanet:528), Congenital generalized lipodystrophy type 3 (Orphanet:696206), Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome (Orphanet:71289), Rare genetic diabetes mellitus (Orphanet:183625), Pulmonary arterial hypertension associated with congenital heart disease (Orphanet:275803), Amyotrophic lateral sclerosis (Orphanet:803)

HPO phenotypes

106 total (30 of 106 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000103	Polyuria
HP:0000160	Narrow mouth
HP:0000217	Xerostomia
HP:0000239	Large fontanelles
HP:0000325	Triangular face
HP:0000360	Tinnitus
HP:0000369	Low-set ears
HP:0000418	Narrow nasal ridge
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000580	Pigmentary retinopathy
HP:0000639	Nystagmus
HP:0000670	Carious teeth
HP:0000786	Primary amenorrhea
HP:0000819	Diabetes mellitus
HP:0000822	Hypertension
HP:0000855	Insulin resistance
HP:0000951	Abnormality of the skin
HP:0000956	Acanthosis nigricans
HP:0000958	Dry skin
HP:0000963	Thin skin
HP:0000965	Cutis marmorata
HP:0001000	Abnormality of skin pigmentation
HP:0001007	Hirsutism
HP:0001053	Hypopigmented skin patches
HP:0001278	Orthostatic hypotension
HP:0001310	Dysmetria

GWAS associations

71 associations (top):

Study	Trait	p-value
GCST000561_3	Electrocardiographic traits	7.000000e-13
GCST000562_1	PR interval	4.000000e-28
GCST000793_1	Glaucoma (primary open-angle)	2.000000e-11
GCST001499_6	Atrial fibrillation	4.000000e-12
GCST001735_7	PR interval	4.000000e-12
GCST002456_5	PR segment duration	5.000000e-12
GCST002500_60	QT interval	3.000000e-08
GCST002535_4	PR interval	3.000000e-14
GCST002542_8	Electrocardiographic traits	2.000000e-06
GCST002580_4	Intraocular pressure	2.000000e-11
GCST002582_6	Glaucoma (primary open-angle)	5.000000e-07
GCST004074_7	Intraocular pressure	1.000000e-11
GCST004074_8	Intraocular pressure	4.000000e-13
GCST004373_13	Atrial fibrillation	2.000000e-14
GCST004611_27	High light scatter reticulocyte count	1.000000e-19
GCST004612_37	High light scatter reticulocyte percentage of red cells	6.000000e-22
GCST004619_8	Reticulocyte fraction of red cells	1.000000e-24
GCST004622_6	Reticulocyte count	1.000000e-20
GCST004628_94	Immature fraction of reticulocytes	7.000000e-09
GCST004826_17	P wave duration	1.000000e-10
GCST004826_8	P wave duration	8.000000e-11
GCST005080_8	PR interval	2.000000e-18
GCST005170_44	Intraocular pressure	2.000000e-14
GCST005170_45	Intraocular pressure	2.000000e-14
GCST005580_109	Intraocular pressure	1.000000e-42
GCST005845_5	Heart rate increase in response to exercise	2.000000e-09
GCST005846_8	Heart rate response to recovery post exercise (10 sec)	2.000000e-12
GCST005847_10	Heart rate response to recovery post exercise (20 sec)	2.000000e-12
GCST005848_16	Heart rate response to recovery post exercise (50 sec)	3.000000e-10
GCST005849_1	Heart rate response to recovery post exercise (40 sec)	8.000000e-11

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004462	PR interval
EFO:0005095	PR segment
EFO:0004682	QT interval
EFO:0004695	intraocular pressure measurement
EFO:0007986	reticulocyte count
EFO:0005094	P wave duration
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0004327	electrocardiography
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007989	monocyte percentage of leukocytes
EFO:0007984	platelet component distribution width

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D000690	Amyotrophic Lateral Sclerosis	C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050
D002292	Carcinoma, Renal Cell	C04.557.470.200.025.390; C04.588.945.947.535.160; C12.050.351.937.820.535.160; C12.050.351.968.419.473.160; C12.200.758.820.750.160; C12.200.777.419.473.160; C12.900.820.535.160; C12.950.419.473.160; C12.950.983.535.160
C567282	Lipodystrophy, Congenital Generalized, Type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3808270 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

190 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases methylation, affects cotreatment, increases expression, affects expression (+1 more)	10
Hydrogen Peroxide	increases response to substance, increases degradation, affects binding, decreases reaction, increases ubiquitination (+3 more)	7
sodium arsenite	increases abundance, increases expression, decreases reaction, increases response to substance, affects expression (+1 more)	6
Particulate Matter	increases expression, increases localization, decreases expression, increases abundance, affects cotreatment	6
Arsenic Trioxide	decreases expression, increases expression	5
Air Pollutants	increases expression, affects cotreatment, decreases expression, increases abundance	5
trichostatin A	increases expression, affects cotreatment	4
Rosiglitazone	decreases reaction, increases expression	4
Resveratrol	affects binding, increases reaction, increases abundance, increases phosphorylation, affects transport (+3 more)	4
Cisplatin	increases cleavage, increases expression, increases reaction, increases response to substance, affects response to substance (+3 more)	4
Lipopolysaccharides	increases reaction, affects localization, increases phosphorylation, affects expression, affects response to substance (+3 more)	4
Tetrachlorodibenzodioxin	affects expression, affects cotreatment, decreases expression	4
bisphenol A	affects methylation, affects cotreatment, increases expression	3
arsenite	decreases expression, decreases reaction, affects binding, increases reaction, increases phosphorylation	3
(+)-JQ1 compound	decreases expression	3
Acetylcysteine	decreases reaction, increases phosphorylation, increases expression, decreases expression, increases degradation (+1 more)	3
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	3
Estradiol	increases phosphorylation, affects cotreatment, decreases expression, decreases reaction, increases expression	3
Methotrexate	affects response to substance, decreases response to substance, increases expression	3
Quercetin	affects localization, decreases reaction, increases expression	3
Cadmium Chloride	decreases expression, increases expression	3
triadimefon	decreases expression	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
SB 203580	increases phosphorylation, decreases reaction, increases expression, increases reaction	2
chloropicrin	affects expression, decreases expression	2
bisphenol S	decreases methylation, increases expression	2
Decitabine	affects cotreatment, decreases expression, increases expression	2
Fulvestrant	affects methylation, decreases expression, decreases reaction, affects cotreatment	2
Acetaminophen	decreases expression	2

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3813174	Binding	Inhibition of oligomerization of human soluble full length variant CAV at 10 uM by dynamic light scattering analysis	Affinity-Guided Design of Caveolin-1 Ligands for Deoligomerization. — J Med Chem

Cellosaurus cell lines

6 cell lines: 5 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1BU	Abcam A-431 CAV1 KO	Cancer cell line	Female
CVCL_B1M9	Abcam HeLa CAV1 KO	Cancer cell line	Female
CVCL_D1RU	Abcam U-87MG CAV1 KO	Cancer cell line	Male
CVCL_D9B4	Ubigene HEK293 CAV1 KO	Transformed cell line	Female
CVCL_E0YE	Ubigene MCF-7 CAV1 KO	Cancer cell line	Female
CVCL_E1IT	HyCyte A-549 KO-hCAV1	Cancer cell line	Male

Clinical trials (associated diseases)

307 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03344159	PHASE4	COMPLETED	Spironolactone Therapy in Chronic Stable Right HF Trial
NCT00414765	PHASE4	COMPLETED	Aldesleukin in Participants With Metastatic Renal Cell Carcinoma or Metastatic Melanoma
NCT00777504	PHASE4	UNKNOWN	Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors
NCT00930345	PHASE4	TERMINATED	Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma
NCT01206764	PHASE4	COMPLETED	A Trial of Everolimis in Patients With Advanced Renal Cell Carcinoma.
NCT01266837	PHASE4	COMPLETED	Open Label, Single Arm Trial to Characterize Patients With Metastatic RCC Treated With Everolimus After Failure of the First VEGF-targeted Therapy (MARC-2)
NCT02056587	PHASE4	COMPLETED	Everolimus in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment
NCT02338570	PHASE4	TERMINATED	Outcome-related Factors in Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus (ORCHIDEE)
NCT02596035	PHASE4	COMPLETED	An Investigational Immuno-therapy Safety Trial of Nivolumab in Patients With Advanced or Metastatic Renal Cell Carcinoma
NCT02982954	PHASE4	COMPLETED	A Study to Evaluate the Safety of Nivolumab and Ipilimumab in Subjects With Previously Untreated Advanced or Metastatic Renal Cell Cancer
NCT05949424	PHASE4	UNKNOWN	OPTI - DOSE: Optimal Dosing of Oral Anticancer Drugs in Older Adults
NCT07028125	PHASE4	RECRUITING	Digital Monitoring of Self-reported Symptoms by Patients Treated With Cabozantinib Plus Nivolumab for Advanced Clear-cell Renal Carcinoma
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT00033904	PHASE3	COMPLETED	Survival Study Of Oncophage® vs. Observation In Patients With Kidney Cancer
NCT00126178	PHASE3	TERMINATED	Clinical Trial Studying a Personalized Cancer Vaccine in Patients With Non-metastatic Kidney Cancer
NCT00291369	PHASE3	COMPLETED	Cytokines in Patients With Metastatic Renal Cell Carcinoma of Intermediate Prognosis
NCT00410124	PHASE3	COMPLETED	RAD001 Plus Best Supportive Care (BSC) Versus BSC Plus Placebo in Patients With Metastatic Carcinoma of the Kidney Which Has Progressed After Treatment With Sorafenib and/or Sunitinib
NCT00474786	PHASE3	COMPLETED	Temsirolimus Versus Sorafenib As Second-Line Therapy In Patients With Advanced RCC Who Have Failed First-Line Sunitinib
NCT00478114	PHASE3	COMPLETED	Efficacy and Safety of Sorafenib in Advanced Renal Cell Carcinoma (RCC)
NCT00606632	PHASE3	COMPLETED	Pre-surgical Detection of Clear Cell Renal Cell Carcinoma (ccRCC) Using Radiolabeled G250-Antibody
NCT00606866	PHASE3	COMPLETED	MRI Study of BAY 43-9006 in Metastatic Renal Cell Carcinoma
NCT00631371	PHASE3	COMPLETED	Study Comparing Bevacizumab + Temsirolimus vs. Bevacizumab + Interferon-Alfa In Advanced Renal Cell Carcinoma Subjects
NCT00732914	PHASE3	COMPLETED	Sequential Study to Treat Renal Cell Carcinoma
NCT00869011	PHASE3	UNKNOWN	Exercise for Patients With Renal Cell Cancer Receiving Sunitinib
NCT00930033	PHASE3	COMPLETED	Clinical Trial to Assess the Importance of Nephrectomy
NCT01030783	PHASE3	COMPLETED	A Study to Compare Tivozanib (AV-951) to Sorafenib in Subjects With Advanced Renal Cell Carcinoma
NCT01076010	PHASE3	COMPLETED	An Extension Treatment Protocol for Subjects Who Have Participated in a Study of Tivozanib Versus Sorafenib in Kidney Carcinoma (Protocol AV-951-09-301).
NCT01198158	PHASE3	TERMINATED	Everolimus With or Without Bevacizumab in Treating Patients With Advanced Kidney Cancer That Progressed After First-Line Therapy
NCT01223027	PHASE3	COMPLETED	Study of Dovitinib Versus Sorafenib in Patients With Metastatic Renal Cell Carcinoma
NCT01224288	PHASE3	ACTIVE_NOT_RECRUITING	Dynamic Contrast Enhancement Computed Tomography for Evaluating Tumor Perfusion in Patients With Metastatic Renal Cell Carcinoma Receiving Targeted Therapies: Renal Cell Carcinoma (RCC) Scramble
NCT01235962	PHASE3	COMPLETED	A Study to Evaluate Pazopanib as an Adjuvant Treatment for Localized Renal Cell Carcinoma (RCC)
NCT01265810	PHASE3	COMPLETED	Caphosol in Oral Mucositis Due to Targeted Therapy
NCT01265901	PHASE3	COMPLETED	IMA901 in Patients Receiving Sunitinib for Advanced/Metastatic Renal Cell Carcinoma
NCT01481870	PHASE3	UNKNOWN	Comparison of Sequential Therapies With Sunitinib and Sorafenib in Advanced Renal Cell Carcinoma
NCT01582672	PHASE3	TERMINATED	Phase 3 Trial of Autologous Dendritic Cell Immunotherapy Plus Standard Treatment of Advanced Renal Cell Carcinoma
NCT01613846	PHASE3	COMPLETED	Phase III Sequential Open-label Study to Evaluate the Efficacy and Safety of Sorafenib Followed by Pazopanib Versus Pazopanib Followed by Sorafenib in the Treatment of Advanced / Metastatic Renal Cell Carcinoma (SWITCH-II)
NCT01762592	PHASE3	WITHDRAWN	REDECT 2: REnal Masses: Pivotal Trial to DEteCT Clear Cell Renal Cell Carcinoma With PET/CT
NCT01865747	PHASE3	COMPLETED	A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma
NCT02231749	PHASE3	COMPLETED	Nivolumab Combined With Ipilimumab Versus Sunitinib in Previously Untreated Advanced or Metastatic Renal Cell Carcinoma (CheckMate 214)
NCT02420821	PHASE3	COMPLETED	A Study of Atezolizumab in Combination With Bevacizumab Versus Sunitinib in Participants With Untreated Advanced Renal Cell Carcinoma (RCC)