General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 857 |
Name | CAV1 |
Synonym | BSCL3|CGL3|MSTP085|VIP21;caveolin 1, caveolae protein, 22kDa;CAV1;caveolin 1, caveolae protein, 22kDa |
Definition | caveolin-1|cell growth-inhibiting protein 32 |
Position | 7q31.1 |
Gene Type | protein-coding |
PAH Type |
Description |
PAH | Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. |
PAH | An independent de novo frameshift mutation was identified in a child with idiopathic PAH. |
PH | Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. |
PH | Caveolin-1 null (-/-) mice show dramatic reductions in life span. |
PH | Disruption of endothelial-cell caveolin-1alpha/raft scaffolding during development of monocrotaline-induced pulmonary hypertension. |
PH | Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. |
PH | Activated CD47 promotes pulmonary arterial hypertension through targeting caveolin-1. |
PH | Activated CD47 promotes pulmonary arterial hypertension through targeting caveolin-1. |
More detail of all Human literatures about CAV1 | |
Pathways and Diseases |
|
Pathway | Endocytosis;KEGG PATHWAY;hsa04144 |
Pathway | Direct p53 effectors;PID Curated;200101 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Pathway | Basigin interactions;PID Reactome;500308 |
Pathway | VEGFR1 specific signals;PID Curated;200151 |
Pathway | ion channels and their functional role in vascular endothelium;PID BioCarta;100055 |
Pathway | NOSTRIN mediated eNOS trafficking;PID Reactome;500851 |
Pathway | PDGFR-alpha signaling pathway;PID Curated;200140 |
Pathway | Bacterial invasion of epithelial cells;KEGG PATHWAY;hsa05100 |
Pathway | TNF receptor signaling pathway;PID Curated;200086 |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | TGF-beta receptor signaling;PID Curated;200195 |
Pathway | corticosteroids and cardioprotection;PID BioCarta;100156 |
Pathway | eNOS activation;PID Reactome;500849 |
Pathway | Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis;PID Reactome;500799 |
Pathway | Metabolism of nitric oxide;Reactome;REACT:12508 |
Pathway | Signaling events mediated by VEGFR1 and VEGFR2;PID Curated;200161 |
Pathway | Insulin Pathway;PID Curated;200012 |
Pathway | Canonical Wnt signaling pathway;PID Curated;200064 |
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Pathway | actions of nitric oxide in the heart;PID BioCarta;100094 |
Pathway | Signaling events mediated by PTP1B;PID Curated;200033 |
Pathway | Viral myocarditis;KEGG PATHWAY;hsa05416 |
Pathway | Hemostasis;Reactome;REACT:604 |
Pathway | integrin signaling pathway;PID BioCarta;100123 |
Pathway | vegf hypoxia and angiogenesis;PID BioCarta;100006 |
Disease | Scleroderma;FunDO |
Disease | Primary biliary cirrhosis;FunDO |
Disease | Hypertension;FunDO |
Disease | Electrocardiographic traits;NHGRI |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Lipodystrophy, congenital generalized, type 3;OMIM |
Disease | Systemic scleroderma;FunDO |
Disease | CARDIOVASCULAR;GAD |
Disease | Bladder cancer;FunDO |
Disease | Congenital generalized lipodystrophy;KEGG DISEASE;H00419 |
Disease | Pulmonary fibrosis;FunDO |
Disease | prostate cancer;GAD |
Disease | Other genetic disorders;KEGG DISEASE |
Disease | Glaucoma (primary open-angle);NHGRI |
Disease | Cancer;FunDO |
Disease | PR interval;NHGRI |
Disease | Oral cancer;FunDO |
Disease | CANCER;GAD |
Disease | Rabies;FunDO |
Disease | blood pressure, arterial hypertension;GAD |
External Links |
|
Links to Entrez Gene | 857 |
Links to all GeneRIF Items | 857 |
Links to iHOP | 857 |
Sequence Information |
|
Nucleotide Sequence |
>857 : length: 444 atggcagacgagctgagcgagaagcaagtgtacgacgcgcacaccaaggagatcgacctg gtcaaccgcgaccctaaacacctcaacgatgacgtggtcaagattgactttgaagatgtg attgcagaaccagaagggacacacagttttgacggcatttggaaggccagcttcaccacc ttcactgtgacgaaatactggttttaccgcttgctgtctgccctctttggcatcccgatg gcactcatctggggcatttacttcgccattctctctttcctgcacatctgggcagttgta ccatgcattaagagcttcctgattgagattcagtgcatcagccgtgtctattccatctac gtccacaccgtctgtgacccactctttgaagctgttgggaaaatattcagcaatgtccgc atcaacttgcagaaagaaatataa |
Protein Sequence |
>857 : length: 147 MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTT FTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIY VHTVCDPLFEAVGKIFSNVRINLQKEI |