RAB18
entrez
22931
canonical
uniprot
Q9NP72
canonical
ensembl
ENSG00000099246
resolver
ensp
ENSP00000349415
resolver
ensp
ENSP00000478479
resolver
ensp
ENSP00000507154
resolver
ensp
ENSP00000507589
resolver
enst
ENST00000684501
resolver
genesymbol
RAB18
resolver
hgnc
HGNC:14244
resolver
uniprot
A0A804HJP5
resolver
uniprot
B3KMC7
resolver
uniprot
B7Z333
resolver
uniprot
B7Z4P9
resolver
uniprot
D3DRW1
resolver
uniprot
Q53FX8
resolver
uniprot
Q56UN9
resolver
uniprot
Q6FIH1
resolver
uniprot_entry
A0A804HJP5_HUMAN
resolver
uniprot_entry
B7Z4P9_HUMAN
resolver
uniprot_entry
RAB18_HUMAN
resolver
uniprot_sec
B3KMC7
resolver
uniprot_sec
B7Z333
resolver
uniprot_sec
D3DRW1
resolver
uniprot_sec
Q53FX8
resolver
uniprot_sec
Q56UN9
resolver
uniprot_sec
Q6FIH1
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factor (GEF) RAB3GAP1-RAB3GAP2 complex at the cis-Golgi membrane which promotes the exchange of bound GDP for free GTP (PubMed:24891604, PubMed:26063829). Regulated by GTPase activating protein (GAP) TBC1D20 at the ER membrane which increases the GTP hydrolysis activity (PubMed:26063829). Inhibited by GDP dissociation inhibitors (GDIs) which prevent Rab-GDP dissociation (Probable). {ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829, ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MDEDVLTTLKILIIGESGVGKSSLLLRFTDDTFDPELAATIGVDFKVKTISVDGNKAKLAIWDTAGQERFRTLTPSYYRGAQGVILVYDVTRRDTFVKLDNWLNELETYCTRNDIVNMLVGNKIDKENREVDRNEGLKFARKHSMLFIEASAKTCDGVQCAFEELVEKIIQTPGLWESENQNKGVKLSHREEGQGGGACGGYCSVL
uniprot
proteins
disease_involvement
DISEASE: Warburg micro syndrome 3 (WARBM3) [MIM:614222]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:21473985, ECO:0000269|PubMed:23420520}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24891604, PubMed:30970241). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:24891604, PubMed:30970241). RAB18 is required for the localization of ZFYVE1 to lipid droplets and for its function in mediating the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts (PubMed:30970241). Also required for maintaining endoplasmic reticulum structure (PubMed:24891604). Plays a role in apical endocytosis/recycling (By similarity). Plays a key role in eye and brain development and neurodegeneration (PubMed:21473985). {ECO:0000250|UniProtKB:P35293, ECO:0000269|PubMed:21473985, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:30970241}.
uniprot
proteins
mass_dalton
22977
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="S->N: Loss of localization to lipid droplets and interaction with ZFYVE1."; /evidence="ECO:0000269|PubMed:30970241"; MUTAGEN 67; /note="Q->L: No loss of localization to lipid droplets and interaction with ZFYVE1."; /evidence="ECO:0000269|PubMed:30970241"; MUTAGEN 133; /note="R->A: Impaired GDP/GTP exchange by the RAB3GAP1-RAB3GAP2 complex."; /evidence="ECO:0000269|PubMed:39779760"; MUTAGEN 141; /note="R->A: Impaired GDP/GTP exchange by the RAB3GAP1-RAB3GAP2 complex."; /evidence="ECO:0000269|PubMed:39779760"; MUTAGEN 164; /note="E->A: Impaired GDP/GTP exchange by the RAB3GAP1-RAB3GAP2 complex."; /evidence="ECO:0000269|PubMed:39779760
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10648831
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16147880
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21473985
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23420520
uniprot
proteins
pubmed
23935497
uniprot
proteins
pubmed
24891604
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26063829
uniprot
proteins
pubmed
30970241
uniprot
proteins
pubmed
31293035
uniprot
proteins
pubmed
39779760
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:26063829}. Lipid droplet {ECO:0000269|PubMed:23935497, ECO:0000269|PubMed:30970241}. Apical cell membrane {ECO:0000250|UniProtKB:P35293}. Note=Localized to the ER membrane as well as to the cis-Golgi in fibroblasts. {ECO:0000269|PubMed:26063829}.
uniprot
proteins