CAV1

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 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; • protein-containing complex; • Сарколема;
Біологічний процес	• caveolin-mediated endocytosis; • positive regulation of calcium ion transport into cytosol; • vasoconstriction; • 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; • 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; • 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; • 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
	857
	12389
	ENSG00000105974
	ENSMUSG00000007655
	Q03135
	P49817
	NM_001753; NM_001172895; NM_001172896; NM_001172897
	NM_001243064; NM_007616
	NP_001166366; NP_001166367; NP_001166368; NP_001744
	NP_001229993; NP_031642
	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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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.). Процитовано 7 вересня 2017.
UniProt, Q03135 (англ.). Процитовано 7 вересня 2017.

Див. також

Хромосома 7

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[1] Захворювання, генетично пов'язані з CAV1 переглянути/редагувати посилання на ВікіДаних.

[2] Human PubMed Reference:.

[3] Mouse PubMed Reference:.

[HGNC-4] HUGO Gene Nomenclature Commitee, HGNC:1527 (англ.). Процитовано 7 вересня 2017.

[UniProt-5] UniProt, Q03135 (англ.). Процитовано 7 вересня 2017.