CAV1

CAV1

A gene on chromosome 7q31.1 that encodes caveolin 1, the main scaffolding protein of caveolae plasma membranes in most cells. Caveloin 1 links integrin subunits to the tyrosine kinase FYN, an early step in coupling integrins to the Ras-ERK pathway which drives cell cycle progression; CAV1 is a tumour 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 form a stable hetero-oligomeric complex with other colocalising proteins.

Molecular pathology
CAV1 mutations are linked to congenital generalised lipodystrphy (Berardinelli-Seip syndrome) type 3.
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References in periodicals archive ?
Downregulation of Cav1.3 calcium channel expression in the cochlea is associated with age-related hearing loss in C57BL/6J mice.
Evidence suggests that (3-11) chemerin may influence cardiovascular functions and the expressions of PI3K alpha (PI3K[alpha]), PI3K gamma (PI3K[gamma]), beta adrenergic receptor 1 ([beta]1-AR), [beta]2-AR, endothelial nitric oxide synthase (eNOS), sarcolemmal L-type [Ca.sup.2+] channel (CaV1.2) genes, and the tissue levels of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP).
IHC and scoring were conducted as described.[9] Primary antibodies of inducible NOS (iNOS) (mouse, Abcam, ab129372), neuronal NOS (nNOS) (rabbit, Abcam, ab3511), Cav1.2 (mouse, Abcam, ab84814), Cav1.3 (mouse, Abcam, ab85491), IP[sub]3R1 (rabbit, Abcam, ab125076), IP[sub]3R2 (rabbit, Millipore, ab9074), IP[sub]3R3 (rabbit, Millipore, ab9076), and RyR2 (rabbit, Chemicon, ab9080) were diluted at 1:100.
These genes encoded proteins primarily involved in integrin signalling pathways (ACTA2, PIK3C2G, COL4A6, CAV1, LAMA1, FN1, and ITGA8), regulation of hormone levels (NR5A1, TIPARP, ACE, CRYM, CGA, ALDH1A1, TBX3, POMC, GHRH, and ALDH6), camera-type eye development (TGFBR2, BMP4, FABP7, STRA6, SIX6, and WNT6), blood vessel development (Figure S1, goo.gl/tC9GTZ), and regulation of cellular response to growth factor stimulus (see Figure 2).
Endochondral Actin Focal TGF[beta] MAPK ossification cytoskeleton adhesion signaling signaling FGF2 FGF1 ITGA6 UCHL5 STMN1 TGFB2 FGF2 STYK1 CDC2 DUSP1 PLAT FGF5 CAV1 SMURF2 TRAF2 CALM1 FGF22 CAV2 NEDD9 BDNF ADAMTS1 KRAS CAV3 STAMBPL1 MAP3K5 OPG NRAS LAMC2 CCNB2 ACVR1C C11orf13 THBS1 RBL1 KRAS F2R PXN MAPK8 TGFB2 CRK RHOB PARD6A NRAS PAK1 PDPK1 CAV1 PPP5C ARHGEF7 MYLK2 TFDP1 PAK1 VIL2 PAK1 KLF6 CRK PXN MAPK8 FST MAPK8 BCL2 SERPINE1 CCND3 THBS1 CRK NOG HRAS Table 3: Genes involved in adipogenesis-related pathways that are upregulated in CYD-treated hMSCs.
RYR1 and RYR2 function is controlled by Cav1.1, also known as dihydropyridine receptor (DHPR).
Although inhibition of the hERG channel (human ether-a-go-go-related gene) regulating the major repolarizing current in the heart, IKr (delayed inward potassium current), is the most common mechanism of QT prolongation [4, 5], it can also be caused by the drug triggered inhibition of other channels, that is, potassium (Kv7.1), sodium (Nav1.5), or calcium (Cav1.2) [6-9].
Yang et al., "Splice variant specific modulation of CaV1.2 calcium channel by galectin-1 regulates arterial constriction," Circulation Research, vol.
Several responsible genes have been identified: 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2, CGL1) (3), Berardinelli-Seip congenital lipodystrophy 2 (BSCL2, CGL2) (4), caveolin 1 (CAV1, CGL3) (5), and polymerase I and transcript release factor (PTRF, CGL4) (6, 7).
Besides mutations in the BMPR2, ALK1, and ENG genes, rare mutations that account for approximately 5% of the heritable PAHs included SMAD9, caveolin 1 (CAV1), and potassium channel, subfamily K, member 3 (KCNK3) genes.
Type 1 is associated with AGPAT2 mutations, type 2 with BSCL2 mutations, type 3 with CAV1 mutations, and type 4 with PTRF mutations.