AQP5
entrez
362
canonical
uniprot
P55064
canonical
ensembl
ENSG00000161798
resolver
ensp
ENSP00000293599
resolver
enst
ENST00000293599
resolver
genesymbol
AQP5
resolver
hgnc
HGNC:638
resolver
uniprot
Q6FGW8
resolver
uniprot_entry
AQP5_HUMAN
resolver
uniprot_sec
Q6FGW8
resolver
amino_acid_sequence
MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQIALAFGLAIGTLAQALGPVSGGHINPAITLALLVGNQISLLRAFFYVAAQLVGAIAGAGILYGVAPLNARGNLAVNALNNNTTQGQAMVVELILTFQLALCIFASTDSRRTSPVGSPALSIGLSVTLGHLVGIYFTGCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAAILYFYLLFPNSLSLSERVAIIKGTYEPDEDWEEQREERKKTMELTTR
uniprot
proteins
disease_involvement
DISEASE: Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. {ECO:0000269|PubMed:23830519, ECO:0000269|PubMed:23867895}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity). {ECO:0000250|UniProtKB:Q9WTY4, ECO:0000269|PubMed:16571723, ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:8621489}.
uniprot
proteins
mass_dalton
28292
uniprot
proteins
mutagenesis
MUTAGEN 156; /note="S->A: No effect on localization to plasma membrane."; /evidence="ECO:0000269|PubMed:26569106"; MUTAGEN 156; /note="S->E: Increased localization to plasma membrane."; /evidence="ECO:0000269|PubMed:26569106
uniprot
proteins
protein_family
MIP/aquaporin (TC 1.A.8) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16571723
uniprot
proteins
pubmed
18768791
uniprot
proteins
pubmed
23473857
uniprot
proteins
pubmed
23830519
uniprot
proteins
pubmed
23867895
uniprot
proteins
pubmed
26569106
uniprot
proteins
pubmed
8621489
uniprot
proteins
sequence_length
265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:23473857}; Multi-pass membrane protein {ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106}. Cell membrane {ECO:0000269|PubMed:23830519, ECO:0000269|PubMed:26569106, ECO:0000269|PubMed:8621489}; Multi-pass membrane protein {ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:26569106}; Multi-pass membrane protein {ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106}. Note=Hypotonicity increases location at the cell membrane. Phosphorylation decreases location at the cell membrane. {ECO:0000269|PubMed:26569106}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..33; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106"; TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106"; TRANSMEM 127..147; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106"; TRANSMEM 159..179; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106"; TRANSMEM 204..224; /note="Helical"; /evidence="ECO:0000269|PubMed:18768791, ECO:0000269|PubMed:26569106
uniprot
proteins