C1QTNF5
entrez
114902
canonical
uniprot
Q9BXJ0
canonical
ensembl
ENSG00000223953
resolver
ensp
ENSP00000431140
resolver
ensp
ENSP00000456533
resolver
enst
ENST00000528368
resolver
enst
ENST00000530681
resolver
genesymbol
C1QTNF5
resolver
genesymbol_syn
CTRP5
resolver
hgnc
HGNC:14344
resolver
uniprot
A6NDD3
resolver
uniprot
B0YJ35
resolver
uniprot
Q335M2
resolver
uniprot
Q8N6P2
resolver
uniprot
Q9UFX4
resolver
uniprot_entry
C1QT5_HUMAN
resolver
uniprot_sec
A6NDD3
resolver
uniprot_sec
B0YJ35
resolver
uniprot_sec
Q335M2
resolver
uniprot_sec
Q8N6P2
resolver
uniprot_sec
Q9UFX4
resolver
amino_acid_sequence
MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDPGPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVYRASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSPVFA
uniprot
proteins
disease_involvement
DISEASE: Late-onset retinal degeneration (LORD) [MIM:605670]: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. {ECO:0000269|PubMed:12944416, ECO:0000269|PubMed:17122142, ECO:0000269|PubMed:28939808, ECO:0000269|PubMed:32036094, ECO:0000269|PubMed:34887495}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in cellular energy homeostasis through the regulation of 5'-AMP-activated protein kinase (AMPK) phosphorylation and activation (PubMed:19651784, PubMed:34887495). In myocytes, it induces adiponectin receptors-independent AMPK phosphorylation and activation, thereby increasing the phosphorylation of acetyl-CoA carboxylase (ACC) and stimulating fatty acid oxidation and glucose uptake (PubMed:19651784). In the retinal pigment epithelium (RPE), it acts as antagonist of adiponectin receptor protein 1 (ADIPOR1) and negatively regulates ADIPOR1-dependent AMPK activation (PubMed:34887495). {ECO:0000269|PubMed:19651784, ECO:0000269|PubMed:34887495}.
uniprot
proteins
mass_dalton
25298
uniprot
proteins
pubmed
12944416
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17122142
uniprot
proteins
pubmed
17122143
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19651784
uniprot
proteins
pubmed
22892318
uniprot
proteins
pubmed
24531000
uniprot
proteins
pubmed
28939808
uniprot
proteins
pubmed
32036094
uniprot
proteins
pubmed
34887495
uniprot
proteins
sequence_length
243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:17122142, ECO:0000269|PubMed:34887495}. Secreted {ECO:0000269|PubMed:17122142, ECO:0000269|PubMed:19651784, ECO:0000269|PubMed:34887495}. Note=Associated with the lateral and apical membranes of the ocular ciliary body and retinal pigment epithelium (RPE). {ECO:0000269|PubMed:17122142, ECO:0000269|PubMed:34887495}.
uniprot
proteins