RAB32
entrez
10981
canonical
uniprot
Q13637
canonical
ensembl
ENSG00000118508
resolver
ensp
ENSP00000356465
resolver
enst
ENST00000367495
resolver
genesymbol
RAB32
resolver
hgnc
HGNC:9772
resolver
uniprot_entry
RAB32_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine the nucleotide exchange factor (GEF) BLOC-3 complex composed of HPS1 and HPS4 which promote the exchange of bound GDP for free GTP (PubMed:23084991). Regulated by the GTPase activating protein (GAP) SGSM2/RUTBC1 which increases the GTP hydrolysis activity (PubMed:21808068). Inhibited by GDP dissociation inhibitors (GDIs) which prevent Rab-GDP dissociation (Probable). {ECO:0000269|PubMed:21808068, ECO:0000269|PubMed:23084991, ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MAGGGAGDPGLGAAAAPAPETREHLFKVLVIGELGVGKTSIIKRYVHQLFSQHYRATIGVDFALKVLNWDSRTLVRLQLWDIAGQERFGNMTRVYYKEAVGAFVVFDISRSSTFEAVLKWKSDLDSKVHLPNGSPIPAVLLANKCDQNKDSSQSPSQVDQFCKEHGFAGWFETSAKDNINIEEAARFLVEKILVNHQSFPNEENDVDKIKLDQETLRAENKSQCC
uniprot
proteins
disease_involvement
DISEASE: Parkinson disease 26, autosomal dominant (PARK26) [MIM:620923]: An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK26 shows incomplete penetrance. {ECO:0000269|PubMed:38614108, ECO:0000269|PubMed:38858457}. Note=Disease susceptibility is associated with 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:11784320, PubMed:21808068). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:11784320). Also acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). Stimulates phosphorylation of RAB10 'Thr-73' by LRRK2 (PubMed:38127736). {ECO:0000250|UniProtKB:Q9CZE3, ECO:0000269|PubMed:11784320, ECO:0000269|PubMed:12186851, ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:21808068, ECO:0000269|PubMed:23084991, ECO:0000269|PubMed:38127736}.
uniprot
proteins
mass_dalton
24997
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="T->N: Decreased GTP-binding activity."; /evidence="ECO:0000269|PubMed:12186851"; MUTAGEN 85; /note="Q->L: No change in GTPase activity."; /evidence="ECO:0000269|PubMed:11784320"; MUTAGEN 89; /note="G->T: Impairs interaction with ANKRD27; when associated with S-90 and L-94."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 90; /note="N->S: Impairs interaction with ANKRD27; when associated with T-89 and L-94."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 91; /note="M->S: Impairs interaction with ANKRD27; when associated with S-93."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 93; /note="R->S: Impairs interaction with ANKRD27; when associated with M-91."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 94; /note="V->L: Impairs interaction with ANKRD27; when associated with T-89 and S-90."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 185; /note="A->F: Abolishes binding to protein kinase A type II regulatory subunit."; /evidence="ECO:0000269|PubMed:12186851"; MUTAGEN 188; /note="L->P: Abolishes binding to protein kinase A type II regulatory subunit."; /evidence="ECO:0000269|PubMed:12186851
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
11784320
uniprot
proteins
pubmed
12186851
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
21255211
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21808068
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23084991
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24856514
uniprot
proteins
pubmed
25489052
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38127736
uniprot
proteins
pubmed
38614108
uniprot
proteins
pubmed
38858457
uniprot
proteins
sequence_length
225
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12186851}. Mitochondrion outer membrane {ECO:0000269|PubMed:23084991, ECO:0000305|PubMed:12186851}; Lipid-anchor {ECO:0000305|PubMed:12186851}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:21255211}. Cytoplasmic vesicle, phagosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Melanosome {ECO:0000250|UniProtKB:Q9CZE3}. Melanosome membrane {ECO:0000269|PubMed:23084991}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization (PubMed:23084991). {ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:23084991}.
uniprot
proteins