GPRC5B
entrez
51704
canonical
uniprot
Q9NZH0
canonical
ensembl
ENSG00000167191
resolver
ensp
ENSP00000300571
resolver
genesymbol
GPRC5B
resolver
genesymbol_syn
RAIG2
resolver
hgnc
HGNC:13308
resolver
uniprot
B7Z831
resolver
uniprot
D2DFB0
resolver
uniprot
O75205
resolver
uniprot
Q8NBZ8
resolver
uniprot_entry
B7Z831_HUMAN
resolver
uniprot_entry
GPC5B_HUMAN
resolver
uniprot_sec
D2DFB0
resolver
uniprot_sec
O75205
resolver
uniprot_sec
Q8NBZ8
resolver
amino_acid_sequence
MFVASERKMRAHQVLTFLLLFVITSVASENASTSRGCGLDLLPQYVSLCDLDAIWGIVVEAVAGAGALITLLLMLILLVRLPFIKEKEKKSPVGLHFLFLLGTLGLFGLTFAFIIQEDETICSVRRFLWGVLFALCFSCLLSQAWRVRRLVRHGTGPAGWQLVGLALCLMLVQVIIAVEWLVLTVLRDTRPACAYEPMDFVMALIYDMVLLVVTLGLALFTLCGKFKRWKLNGAFLLITAFLSVLIWVAWMTMYLFGNVKLQQGDAWNDPTLAITLAASGWVFVIFHAIPEIHCTLLPALQENTPNYFDTSQPRMRETAFEEDVQLPRAYMENKAFSMDEHNAALRTAGFPNGSLGKRPSGSLGKRPSAPFRSNVYQPTEMAVVLNGGTIPTAPPSHTGRHLW
uniprot
proteins
disease_involvement
DISEASE: Megalencephalic leukoencephalopathy with subcortical cysts 3 (MLC3) [MIM:620447]: An autosomal dominant disorder characterized by increased head circumference apparent in infancy, followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter. {ECO:0000269|PubMed:37143309}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: G protein-coupled receptor involved in the regulation of cell volume. {ECO:0000269|PubMed:37143309}.
uniprot
proteins
mass_dalton
44795
uniprot
proteins
protein_family
G protein-coupled receptor 3 family
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
10783259
uniprot
proteins
pubmed
10945465
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
37143309
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10945465}; Multi-pass membrane protein {ECO:0000269|PubMed:10945465}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10945465}; Multi-pass membrane protein {ECO:0000269|PubMed:10945465}. Note=Localized in the plasma membrane and perinuclear vesicles.
uniprot
proteins
transmembrane_region
TRANSMEM 57..77; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 95..115; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 127..147; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 163..183; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 200..220; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 235..255; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 272..292; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins