CAV1

Ідентифікатори

Символи

CAV1, BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21, Caveolin 1

Зовнішні ІД

OMIM: 601047 MGI: 102709 HomoloGene: 1330 GeneCards: CAV1

Пов'язані генетичні захворювання

congenital generalized lipodystrophy type 3^[1]

Онтологія гена
Молекулярна функція	• protein-macromolecule adaptor activity • transmembrane transporter binding • structural molecule activity • signaling receptor binding • nitric-oxide synthase binding • patched binding • enzyme binding • peptidase activator activity • GO:0001948, GO:0016582 protein binding • GO:0032947 molecular adaptor activity • protein kinase binding • ATPase binding • cholesterol binding • inward rectifier potassium channel inhibitor activity • identical protein binding • protein heterodimerization activity • GO:0032403 protein-containing complex binding
Клітинна компонента	• endocytic vesicle membrane • ендосома • мембрана • focal adhesion • VCP-NPL4-UFD1 AAA ATPase complex • perinuclear region of cytoplasm • caveola • війка • apical plasma membrane • ендоплазматичний ретикулум • membrane raft • integral component of membrane • комплекс Ґольджі • early endosome membrane • клітинна мембрана • внутрішньоклітинний • cell cortex • endoplasmic reticulum membrane • Golgi membrane • integral component of plasma membrane • acrosomal membrane • basolateral plasma membrane • GO:0016023 cytoplasmic vesicle • lipid droplet • цитоплазма • GO:0009327 protein-containing complex • Сарколема
Біологічний процес	• caveolin-mediated endocytosis • positive regulation of calcium ion transport into cytosol • вазоконстрикція • response to progesterone • negative regulation of protein binding • regulation of peptidase activity • protein localization to plasma membrane raft • mammary gland development • васкулогенез • negative regulation of pinocytosis • response to ischemia • Ангіогенез • apoptotic signaling pathway • positive regulation of extrinsic apoptotic signaling pathway • cholesterol homeostasis • triglyceride metabolic process • negative regulation of canonical Wnt signaling pathway • calcium ion transport • negative regulation of cell population proliferation • cellular response to transforming growth factor beta stimulus • positive regulation of toll-like receptor 3 signaling pathway • regulation of cytosolic calcium ion concentration • regulation of smooth muscle contraction • vesicle organization • negative regulation of peptidyl-tyrosine autophosphorylation • regulation of cardiac muscle cell action potential involved in regulation of contraction • negative regulation of transforming growth factor beta receptor signaling pathway • protein localization to basolateral plasma membrane • receptor internalization involved in canonical Wnt signaling pathway • regulation of membrane repolarization during action potential • positive regulation of peptidyl-serine phosphorylation • negative regulation of protein tyrosine kinase activity • regulation of entry of bacterium into host cell • negative regulation of MAP kinase activity • positive regulation of vasoconstriction • negative regulation of potassium ion transmembrane transport • лактація • receptor-mediated endocytosis of virus by host cell • regulation of blood coagulation • regulation of ventricular cardiac muscle cell action potential • protein homooligomerization • GO:0022415 viral process • positive regulation of intrinsic apoptotic signaling pathway • negative regulation of receptor signaling pathway via JAK-STAT • mammary gland involution • calcium ion homeostasis • negative regulation of necroptotic process • regulation of the force of heart contraction • lipid storage • nitric oxide homeostasis • membrane depolarization • negative regulation of cytokine-mediated signaling pathway • cellular calcium ion homeostasis • GO:1901227 negative regulation of transcription by RNA polymerase II • response to estrogen • response to calcium ion • regulation of fatty acid metabolic process • cellular response to exogenous dsRNA • negative regulation of MAPK cascade • regulation of ruffle assembly • positive regulation of protein binding • positive regulation of protein ubiquitination • negative regulation of anoikis • leukocyte migration • GO:0034613 protein localization • positive regulation of cell adhesion molecule production • response to hypoxia • negative regulation of nitric-oxide synthase activity • response to bacterium • caveola assembly • cellular response to hyperoxia • cholesterol transport • cellular response to starvation • T cell costimulation • regulation of nitric-oxide synthase activity • receptor internalization • positive regulation of peptidase activity • positive regulation of ER-associated ubiquitin-dependent protein catabolic process • negative regulation of endothelial cell proliferation • negative regulation of BMP signaling pathway • negative regulation of protein ubiquitination • cellular response to peptide hormone stimulus • GO:1901313 positive regulation of gene expression • negative regulation of nitric oxide biosynthetic process • angiotensin-activated signaling pathway involved in heart process • protein complex oligomerization • negative regulation of peptidyl-serine phosphorylation • posttranscriptional regulation of gene expression • positive regulation of gap junction assembly • maintenance of protein location in cell • negative regulation of signal transduction • regulation of the force of heart contraction by chemical signal • regulation of cell communication by electrical coupling involved in cardiac conduction • regulation of heart rate by cardiac conduction • negative regulation of epithelial cell differentiation • skeletal muscle tissue development • beta-catenin destruction complex disassembly • GO:0048554 positive regulation of catalytic activity • positive regulation of canonical Wnt signaling pathway • negative regulation of tyrosine phosphorylation of STAT protein • negative regulation of inward rectifier potassium channel activity • диференціація клітин • positive regulation of cell migration • positive regulation of cold-induced thermogenesis • positive regulation of NF-kappaB transcription factor activity
Джерела:Amigo / QuickGO

Шаблон експресії

Більше даних

Ортологи

Види

Людина

Миша

Entrez


857


12389

Ensembl


ENSG00000105974


ENSMUSG00000007655

UniProt


Q03135


P49817

RefSeq (мРНК)


NM_001753 NM_001172895 NM_001172896 NM_001172897


NM_001243064 NM_007616

RefSeq (білок)


NP_001166366 NP_001166367 NP_001166368 NP_001744


NP_001229993 NP_031642

Локус (UCSC)

Хр. 7: 116.52 – 116.56 Mb

Хр. 6: 17.31 – 17.34 Mb

PubMed search

^[2]

^[3]

Вікідані

Див./Ред. для людей

Див./Ред. для мишей

CAV1 (англ. Caveolin 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 7-ї хромосоми.^[4] Довжина поліпептидного ланцюга білка становить 178 амінокислот, а молекулярна маса — 20 472^[5].

Послідовність амінокислот

10	20	30	40	50
MSGGKYVDSE	GHLYTVPIRE	QGNIYKPNNK	AMADELSEKQ	VYDAHTKEID
LVNRDPKHLN	DDVVKIDFED	VIAEPEGTHS	FDGIWKASFT	TFTVTKYWFY
RLLSALFGIP	MALIWGIYFA	ILSFLHIWAV	VPCIKSFLIE	IQCISRVYSI
YVHTVCDPLF	EAVGKIFSNV	RINLQKEI

A: Аланін
C: Цистеїн
D: Аспарагінова кислота
E: Глутамінова кислота
F: Фенілаланін
G: Гліцин
H: Гістидин
I: Ізолейцин
K: Лізин
L: Лейцин
M: Метіонін
N: Аспарагін
P: Пролін
Q: Глутамін
R: Аргінін
S: Серин
T: Треонін
V: Валін
W: Триптофан

Y: Тирозин

Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах, як взаємодія хазяїн-вірус, ацетилювання. Локалізований у клітинній мембрані, мембрані, апараті гольджі.

Література

Glenney J.R. Jr. (1992). The sequence of human caveolin reveals identity with VIP21, a component of transport vesicles. FEBS Lett. 314: 45—48. PMID 1360410 DOI:10.1016/0014-5793(92)81458-X
Engelman J.A., Zhang X.L., Lisanti M.P. (1999). Sequence and detailed organization of the human caveolin-1 and -2 genes located near the D7S522 locus (7q31.1). Methylation of a CpG island in the 5' promoter region of the caveolin-1 gene in human breast cancer cell lines. FEBS Lett. 448: 221—230. PMID 10218480 DOI:10.1016/S0014-5793(99)00365-8
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
Vainonen J.P., Aboulaich N., Turkina M.V., Stralfors P., Vener A.V. (2004). N-terminal processing and modifications of caveolin-1 in caveolae from human adipocytes. Biochem. Biophys. Res. Commun. 320: 480—486. PMID 15219854 DOI:10.1016/j.bbrc.2004.05.196
Aboulaich N., Vainonen J.P., Stralfors P., Vener A.V. (2004). Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. Biochem. J. 383: 237—248. PMID 15242332 DOI:10.1042/BJ20040647
Li S., Seitz R., Lisanti M.P. (1996). Phosphorylation of caveolin by src tyrosine kinases. The alpha-isoform of caveolin is selectively phosphorylated by v-Src in vivo. J. Biol. Chem. 271: 3863—3868. PMID 8632005 DOI:10.1074/jbc.271.7.3863

Примітки

↑ Захворювання, генетично пов'язані з CAV1 переглянути/редагувати посилання на ВікіДаних.
↑ Human PubMed Reference:.
↑ Mouse PubMed Reference:.
↑ HUGO Gene Nomenclature Commitee, HGNC:1527 (англ.) . Архів оригіналу за 26 жовтня 2017. Процитовано 7 вересня 2017.
↑ UniProt, Q03135 (англ.) . Архів оригіналу за 2 вересня 2017. Процитовано 7 вересня 2017.