Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
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



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