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.
References in periodicals archive ?
Next-generation sequencing analysis has allowed for identification of genes associated with PAH outside the TGF-[beta] superfamily, including CAV1 and KCNK3.
4] Human genes: APOA5, apolipoprotein A-V; PDGFRB, platelet-derived growth factor receptor beta; LDLRAP1, low density lipoprotein receptor adaptor protein 1; MMP9, matrix metallopeptidase 9; VEGFA, vascular endothelial growth factor A; ACTA2, actin, alpha 2, smooth muscle, aorta; APOC3, apolipoprotein C-III; CAV1, caveolin 1; CD40, CD40 molecule; CETP, cholesterol ester transfer protein, plasma; CIITA, class II, major histocompatibility complex, transactivator; FGG, fibrinogen gamma chain; GPX1, glutathione peroxidase 1; LPL, lipoprotein lipase; MBL2, mannose-binding lectin (protein C)2,soluble; MVK, mevalonate kinase; PITX2, paired like homeodomain 2; TNFRSF1A, tumor necrosis factor receptor superfamily, member 1A; UCP2, uncoupling protein 2 (mitochondrial, protein carrier).
APOA5 (b) Chr11 4 1101 False LDLRAP1 Chr1 9 927 False MMP9 Chr20 13 2124 False PDGFRB Chr5 23 3321 False VEGFA Chr6 7 1239 False ACTA2 Chr10 9 1134 True APOC3 Chr11 4 300 False CAV1 Chr7 3 537 False CD40 Chr20 9 834 False CETP Chr16 16 1482 False CIITA Chr16 20 3396 False FGG Chr4 10 1362 True GPX1 Chr3 1 612 True LPL Chr8 10 1428 False MBL2 Chr10 4 747 True MVK Chr12 11 1191 False PITX2 Chr4 6 954 False TNFRSF1A Chr12 10 1368 False UCP2 Chr11 8 930 False Gene name GC content APOA5 (b) 0.
In light of these results, CAV1 gene may be a strong candidate to serve as a key marker for characterization of milk production as it appears to act as a hub gene engaging in two biological processes, blood circulation and gland development.
Otros genes como CAV1, CAV2 y EHD2 codifican componentes de caveolae que se especializan en las estructuras de membrana plasmatica abundantes en las celulas endoteliales necesarias para la angiogenesis (15).
Apos localizacao oronasal, CAV1 replica inicialmente nas tonsilas, passa aos linfonodos regionais e atinge o sangue pelo ducto toracico.
3 BSCL2 11q13 CAV1 7q31 Partial lipodystrophy LMNA 1q22 LMNB2 19p13.
Nine candidates failed the initial criteria, such as assay length or unsuitable CpG site location for primer and probe placement [BCOR, BCL6 co-repressor; CAV1, caveolin 1, caveolae protein, 22kDa; CD44, CD44 molecule (Indian blood group); CDH13, cadherin 13, H-cadherin (heart); VCAN (formerly CSPG2), versican; FCGR2A, Fc fragment of IgG, low affinity IIa, receptor (CD32); GSK3B, glycogen synthase kinase 3 beta; PCDH17, protocadherin 17; and TAF11, TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa].
In the second predicted pathway (Figure 1B), ADD3, along with MSRA and CD47, may also interact independently with APOA1 (apolipo-protein A-1) and CAV1 (caveolin 1, caveolae protein, 22kDa) to regulate biological quality, homeostasis, cellular components of movement, positive regulation of biological process, and response to stimuli (p= 2.