AQP4
entrez
361
canonical
uniprot
P55087
canonical
ensembl
ENSG00000171885
resolver
ensp
ENSP00000372654
resolver
ensp
ENSP00000462597
resolver
ensp
ENSP00000500598
resolver
ensp
ENSP00000502364
resolver
enst
ENST00000672981
resolver
enst
ENST00000675739
resolver
genesymbol
AQP4
resolver
hgnc
HGNC:637
resolver
uniprot
A0A5F9ZHR4
resolver
uniprot
A0A6Q8PGV0
resolver
uniprot
F1DSG4
resolver
uniprot
P78564
resolver
uniprot
V9PBN7
resolver
uniprot_entry
A0A5F9ZHR4_HUMAN
resolver
uniprot_entry
A0A6Q8PGV0_HUMAN
resolver
uniprot_entry
AQP4_HUMAN
resolver
uniprot_entry
F1DSG4_HUMAN
resolver
uniprot_entry
V9PBN7_HUMAN
resolver
uniprot_sec
P78564
resolver
amino_acid_sequence
MSDRPTARRWGKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQCFGHISGGHINPAVTVAMVCTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFASCDSKRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFSKAAQQTKGSYMEVEDNRSQVETDDLILKPGVVHVIDVDRGEEKKGKDQSGEVLSSV
uniprot
proteins
disease_involvement
DISEASE: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (MLC4) [MIM:620448]: An autosomal recessive disorder characterized by macrocephaly apparent in infancy, developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region. The severity of neurologic dysfunction and brain abnormalities tends to improve with time, indicating a remitting disease course. {ECO:0000269|PubMed:37143309}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Forms a water-specific channel (PubMed:19383790, PubMed:7559426, PubMed:8601457). Plays an important role in brain water homeostasis (PubMed:37143309). It is involved in glymphatic solute transport and is required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity). {ECO:0000250|UniProtKB:P55088, ECO:0000269|PubMed:19383790, ECO:0000269|PubMed:37143309, ECO:0000269|PubMed:7559426, ECO:0000269|PubMed:8601457}.
uniprot
proteins
mass_dalton
34830
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to glutamate increases conductance by 40% (By similarity). {ECO:0000250}.; PTM: Isoform 2: Palmitoylated on its N-terminal region. Isoform 1: Not palmitoylated. {ECO:0000250|UniProtKB:P47863}.
uniprot
proteins
protein_family
MIP/aquaporin (TC 1.A.8) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
19383790
uniprot
proteins
pubmed
22328087
uniprot
proteins
pubmed
29055082
uniprot
proteins
pubmed
37143309
uniprot
proteins
pubmed
7559426
uniprot
proteins
pubmed
8601457
uniprot
proteins
pubmed
8855281
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:37143309, ECO:0000269|PubMed:7559426, ECO:0000269|PubMed:8601457}; Multi-pass membrane protein {ECO:0000269|PubMed:19383790}. Basolateral cell membrane {ECO:0000250|UniProtKB:P55088}; Multi-pass membrane protein {ECO:0000269|PubMed:19383790}. Endosome membrane {ECO:0000250|UniProtKB:P47863}. Cell membrane, sarcolemma {ECO:0000269|PubMed:29055082}; Multi-pass membrane protein {ECO:0000269|PubMed:19383790}. Cell projection {ECO:0000250|UniProtKB:P47863}. Note=Activation of the vasopressin receptor AVPR1A triggers AQP4 phosphorylation at Ser-180 and promotes its internalization from the cell membrane. Detected on brain astrocyte processes and astrocyte endfeet close to capillaries. {ECO:0000250|UniProtKB:P47863}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790"; TRANSMEM 70..89; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790"; TRANSMEM 116..136; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790"; TRANSMEM 156..176; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790"; TRANSMEM 232..252; /note="Helical"; /evidence="ECO:0000269|PubMed:19383790
uniprot
proteins