Rab38
entrez
72433
canonical
uniprot
Q8QZZ8
canonical
ensembl
ENSMUSG00000030559
resolver
ensp
ENSMUSP00000102877
resolver
enst
ENSMUST00000107256
resolver
genesymbol
Rab38
resolver
uniprot
Q5FW76
resolver
uniprot
Q9D7E8
resolver
uniprot_entry
Q5FW76_MOUSE
resolver
uniprot_entry
RAB38_MOUSE
resolver
uniprot_sec
Q9D7E8
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) including the BLOC-3 complex composed of HPS1 and HPS4 which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) including SGSM2 which increase the GTP hydrolysis activity (PubMed:26620560). Inhibited by GDP dissociation inhibitors (GDIs) (Probable). {ECO:0000269|PubMed:26620560, ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MQTPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVRLQLWDIAGQERFGNMTRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLTLPNGKPVSVVLLANKCDQGKDVLMNNGLKMDQFCKEHGFVGWFETSAKENINIDEASRCLVKHILANECDLLESIEPDIVKPHLTSPKVVSCSGCAKS
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Rab38 are the cause of a form of oculocutaneous albinism known as the chocolate (cht) phenotype. Mice exhibit a brown coat similar in color to mice with a mutation in tyrosinase-related protein 1 (TYRP1). The targeting of TYRP1 protein to the melanosome is impaired in Rab38(cht)/Rab38(cht) melanocytes. {ECO:0000269|PubMed:11917121}.
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 (By similarity). RAB38 plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and Mycobacterium (By similarity). May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (PubMed:21187289). Plays an important role in the control of melanin production and melanosome biogenesis (By similarity). In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (PubMed:26620560). {ECO:0000250|UniProtKB:P57729, ECO:0000250|UniProtKB:Q13637, ECO:0000269|PubMed:21187289, ECO:0000269|PubMed:26620560}.
uniprot
proteins
mass_dalton
23776
uniprot
proteins
mutagenesis
MUTAGEN 69; /note="Q->L: Inhibits the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes."; /evidence="ECO:0000269|PubMed:26620560"; MUTAGEN 78; /note="V->A: Disrupts interaction with ANKRD27; inhibits peripheral distribution of TYRP1 in melanocytes."; /evidence="ECO:0000269|PubMed:21187289
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
11917121
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
21187289
uniprot
proteins
pubmed
26620560
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle, phagosome {ECO:0000250|UniProtKB:P57729}. Cytoplasmic vesicle, phagosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Melanosome {ECO:0000269|PubMed:26620560}. Melanosome membrane {ECO:0000250|UniProtKB:P57729}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis. The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization. {ECO:0000250|UniProtKB:P57729}.
uniprot
proteins