RAB27A
entrez
5873
canonical
uniprot
P51159
canonical
ensembl
ENSG00000069974
resolver
ensp
ENSP00000337761
resolver
ensp
ENSP00000379601
resolver
ensp
ENSP00000454695
resolver
ensp
ENSP00000455012
resolver
ensp
ENSP00000456059
resolver
ensp
ENSP00000513368
resolver
ensp
ENSP00000513369
resolver
ensp
ENSP00000569656
resolver
ensp
ENSP00000569661
resolver
ensp
ENSP00000569662
resolver
ensp
ENSP00000569670
resolver
ensp
ENSP00000569671
resolver
ensp
ENSP00000585226
resolver
ensp
ENSP00000762566
resolver
genesymbol
RAB27A
resolver
genesymbol_syn
RAB27
resolver
hgnc
HGNC:9766
resolver
uniprot
A2RU94
resolver
uniprot
O00195
resolver
uniprot
Q6FI40
resolver
uniprot
Q9UIR9
resolver
uniprot
Q9Y5U3
resolver
uniprot_entry
A2RU94_HUMAN
resolver
uniprot_entry
RB27A_HUMAN
resolver
uniprot_sec
O00195
resolver
uniprot_sec
Q6FI40
resolver
uniprot_sec
Q9UIR9
resolver
uniprot_sec
Q9Y5U3
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) including DENND10, which promote the exchange of bound GDP for free GTP (Probable). Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs) (Probable). {ECO:0000305, ECO:0000305|PubMed:30771381}.
uniprot
proteins
amino_acid_sequence
MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC
uniprot
proteins
disease_involvement
DISEASE: Griscelli syndrome 2 (GS2) [MIM:607624]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. {ECO:0000269|PubMed:10835631, ECO:0000269|PubMed:12446441, ECO:0000269|PubMed:12531900, ECO:0000269|PubMed:15548590}. 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. 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:30771381). RAB27A regulates homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse (PubMed:18812475). {ECO:0000269|PubMed:18812475, ECO:0000269|PubMed:30771381}.
uniprot
proteins
mass_dalton
24868
uniprot
proteins
mutagenesis
MUTAGEN 23; /note="T->N: GDP-locked. Abolishes interaction with UNC13D and localization to lysosomes. Increases interaction with DENND10. Disrupts late endocytic pathway homeostasis."; /evidence="ECO:0000269|PubMed:15548590, ECO:0000269|PubMed:30771381"; MUTAGEN 70; /note="L->P: Abolishes interaction with SYTL2."; /evidence="ECO:0000269|PubMed:18812475"; MUTAGEN 76; /note="A->V: Abolishes interaction with SYTL2."; /evidence="ECO:0000269|PubMed:18812475"; MUTAGEN 78; /note="Q->L: GTP-locked. decreases interaction with DENND10."; /evidence="ECO:0000269|PubMed:30771381
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated in a FBXO28-dependent manner; leading to proteasomal degradation. {ECO:0000250|UniProtKB:Q9ERI2}.
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10571040
uniprot
proteins
pubmed
10835631
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12058346
uniprot
proteins
pubmed
12062444
uniprot
proteins
pubmed
12446441
uniprot
proteins
pubmed
12531900
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15548590
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
17237785
uniprot
proteins
pubmed
18812475
uniprot
proteins
pubmed
20048159
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30771381
uniprot
proteins
pubmed
35308027
uniprot
proteins
pubmed
7592656
uniprot
proteins
pubmed
9066979
uniprot
proteins
sequence_length
221
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Late endosome {ECO:0000269|PubMed:15548590, ECO:0000269|PubMed:30771381}. Lysosome {ECO:0000269|PubMed:15548590}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). Localizes to endosomal exocytic vesicles (PubMed:17237785). {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:17237785}.
uniprot
proteins