CAVIN1
entrez
284119
canonical
uniprot
Q6NZI2
canonical
ensembl
ENSG00000177469
resolver
ensp
ENSP00000349541
resolver
genesymbol
CAVIN1
resolver
genesymbol_syn
PTRF
resolver
hgnc
HGNC:9688
resolver
uniprot
B2RAW7
resolver
uniprot
O00535
resolver
uniprot
Q6GMY1
resolver
uniprot
Q96H74
resolver
uniprot
Q9BT85
resolver
uniprot
Q9HAP4
resolver
uniprot_entry
CAVN1_HUMAN
resolver
uniprot_sec
B2RAW7
resolver
uniprot_sec
O00535
resolver
uniprot_sec
Q6GMY1
resolver
uniprot_sec
Q96H74
resolver
uniprot_sec
Q9BT85
resolver
uniprot_sec
Q9HAP4
resolver
amino_acid_sequence
MEDPTLYIVERPLPGYPDAEAPEPSSAGAQAAEEPSGAGSEELIKSDQVNGVLVLSLLDKIIGAVDQIQLTQAQLEERQAEMEGAVQSIQGELSKLGKAHATTSNTVSKLLEKVRKVSVNVKTVRGSLERQAGQIKKLEVNEAELLRRRNFKVMIYQDEVKLPAKLSISKSLKESEALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD
uniprot
proteins
disease_involvement
DISEASE: Lipodystrophy, congenital generalized, 4 (CGL4) [MIM:613327]: A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL4 is characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Inheritance is autosomal recessive. {ECO:0000269|PubMed:19726876, ECO:0000269|PubMed:20684003}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity). {ECO:0000250|UniProtKB:O54724, ECO:0000269|PubMed:18056712, ECO:0000269|PubMed:18191225, ECO:0000269|PubMed:19726876}.
uniprot
proteins
mass_dalton
43476
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity. Phosphorylation at Tyr-156 is essential for its functionin the regulation of ribosomal transcriptional activity. {ECO:0000250|UniProtKB:O54724}.; PTM: Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent. {ECO:0000269|PubMed:15242332}.; PTM: Monoubiquitinated. {ECO:0000250|UniProtKB:O54724}.
uniprot
proteins
protein_family
CAVIN family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17026959
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18056712
uniprot
proteins
pubmed
18191225
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19525939
uniprot
proteins
pubmed
19726876
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20684003
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24567387
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
26614875
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9582279
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane, caveola {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:18056712, ECO:0000269|PubMed:19525939}. Cell membrane {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959, ECO:0000269|PubMed:18056712}. Microsome {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P85125}. Cytoplasm, cytosol {ECO:0000269|PubMed:15242332}. Mitochondrion {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Nucleus {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Note=Translocates to the cytoplasm from the caveolae upon insulin stimulation (PubMed:17026959). Colocalizes with CAV1 in lipid rafts in adipocytes. Localizes in the caveolae in a caveolin-dependent manner (By similarity). {ECO:0000250|UniProtKB:O54724, ECO:0000269|PubMed:17026959}.
uniprot
proteins