RAB28
entrez
9364
canonical
uniprot
P51157
canonical
ensembl
ENSG00000157869
resolver
ensp
ENSP00000288723
resolver
ensp
ENSP00000328551
resolver
ensp
ENSP00000340079
resolver
genesymbol
RAB28
resolver
hgnc
HGNC:9768
resolver
uniprot
G8JLC5
resolver
uniprot
Q8IYR8
resolver
uniprot
Q8NI05
resolver
uniprot_entry
RAB28_HUMAN
resolver
uniprot_sec
G8JLC5
resolver
uniprot_sec
Q8IYR8
resolver
uniprot_sec
Q8NI05
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP (Probable). Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity (Probable). Inhibited by GDP dissociation inhibitors (GDIs) (Probable). {ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQTIGLDFFLRRITLPGNLNVTLQIWDIGGQTIGGKMLDKYIYGAQGVLLVYDITNYQSFENLEDWYTVVKKVSEESETQPLVALVGNKIDLEHMRTIKPEKHLRFCQENGFSSHFVSAKTGDSVFLCFQKVAAEILGIKLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMCAVQ
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 18 (CORD18) [MIM:615374]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:23746546}. 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:8647132). 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:8647132). RAB28 is required for shedding and phagocytosis of cone cell outer segments (OS) discs in the retina (By similarity). Also participates in nuclear factor kappa-B p65/RELA nuclear transport in endothelial cells (By similarity). {ECO:0000250|UniProtKB:P51158, ECO:0000250|UniProtKB:Q99KL7, ECO:0000269|PubMed:8647132}.
uniprot
proteins
mass_dalton
24841
uniprot
proteins
post_translational_modification
PTM: Isoprenylated. {ECO:0000269|PubMed:17411337}.
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17411337
uniprot
proteins
pubmed
19026641
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23746546
uniprot
proteins
pubmed
8647132
uniprot
proteins
sequence_length
221
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P51158}. Cytoplasm {ECO:0000250|UniProtKB:P51158}. Nucleus {ECO:0000250|UniProtKB:P51158}. Note=Expressed in the basal body and ciliary rootlet of the photoreceptor cells (By similarity). Localized in the cytoplasm and the nucleus of vascular endothelial cells (By similarity). {ECO:0000250|UniProtKB:P51158}.
uniprot
proteins