RAB39B
entrez
116442
canonical
uniprot
Q96DA2
canonical
ensembl
ENSG00000155961
resolver
ensp
ENSP00000358466
resolver
enst
ENST00000369454
resolver
genesymbol
RAB39B
resolver
hgnc
HGNC:16499
resolver
uniprot
Q5JT79
resolver
uniprot
Q8NEX3
resolver
uniprot_entry
RB39B_HUMAN
resolver
uniprot_sec
Q5JT79
resolver
uniprot_sec
Q8NEX3
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) including C9orf72-SMCR8 complex, which promote the exchange of bound GDP for free GTP (PubMed:27103069). Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity (Probable). Inhibited by GDP dissociation inhibitors (GDIs) (Probable). {ECO:0000269|PubMed:27103069, ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVDFFSRLVEIEPGKRIKLQIWDTAGQERFRSITRAYYRNSVGGLLLFDITNRRSFQNVHEWLEETKVHVQPYQIVFVLVGHKCDLDTQRQVTRHEAEKLAAAYGMKYIETSARDAINVEKAFTDLTRDIYELVKRGEITIQEGWEGVKSGFVPNVVHSSEEVVKSERRCLC
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 72 (XLID72) [MIM:300271]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. {ECO:0000269|PubMed:20159109}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Waisman syndrome (WSMN) [MIM:311510]: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. {ECO:0000269|PubMed:25434005, ECO:0000269|PubMed:26399558, ECO:0000269|PubMed:27066548}. Note=The disease is caused by variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear (PubMed:26739247, PubMed:27459931). According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that RAB39B does not play a major role in Parkinson disease etiology (PubMed:26739247, PubMed:27459931). {ECO:0000269|PubMed:26739247, ECO:0000269|PubMed:27459931}.
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:27103069). RAB39B is involved in autophagy and may function in autophagosome formation (PubMed:27103069, PubMed:37821429). Binds downstream effector PICK1 to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR composition at the post-synapses and thus synaptic transmission (By similarity). May regulate the homeostasis of SNCA/alpha-synuclein (By similarity). {ECO:0000250|UniProtKB:Q8BHC1, ECO:0000269|PubMed:27103069, ECO:0000269|PubMed:37821429}.
uniprot
proteins
mass_dalton
24622
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="S->N: Dominant negative mutant."; /evidence="ECO:0000269|PubMed:27103069"; MUTAGEN 68; /note="Q->L: Constitutively active mutant locked in the active GTP-bound form."; /evidence="ECO:0000269|PubMed:27103069
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
12438742
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20159109
uniprot
proteins
pubmed
24349490
uniprot
proteins
pubmed
25434005
uniprot
proteins
pubmed
25784538
uniprot
proteins
pubmed
26399558
uniprot
proteins
pubmed
26739247
uniprot
proteins
pubmed
27066548
uniprot
proteins
pubmed
27103069
uniprot
proteins
pubmed
27459931
uniprot
proteins
pubmed
37821429
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:26399558}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:20159109, ECO:0000269|PubMed:24349490}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:37821429}. Autolysosome membrane {ECO:0000269|PubMed:37821429}. Note=Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network. Colocalized with STX17 in autolysosomes in autophagy-induced conditions, although less compared with RAB39A (PubMed:37821429). {ECO:0000250|UniProtKB:Q8BHC1, ECO:0000269|PubMed:37821429}.
uniprot
proteins