TBC1D20
entrez
128637
canonical
uniprot
Q96BZ9
canonical
ensembl
ENSG00000125875
resolver
ensp
ENSP00000346139
resolver
genesymbol
TBC1D20
resolver
genesymbol_syn
C20orf140
resolver
hgnc
HGNC:16133
resolver
uniprot
A8K6I3
resolver
uniprot
B9A6M1
resolver
uniprot
Q5JWQ7
resolver
uniprot
Q6ZSY8
resolver
uniprot
Q96NE1
resolver
uniprot
Q9BYM7
resolver
uniprot
Q9H140
resolver
uniprot
Q9Y2V8
resolver
uniprot_entry
Q9Y2V8_HUMAN
resolver
uniprot_entry
TBC20_HUMAN
resolver
uniprot_sec
A8K6I3
resolver
uniprot_sec
B9A6M1
resolver
uniprot_sec
Q5JWQ7
resolver
uniprot_sec
Q6ZSY8
resolver
uniprot_sec
Q96NE1
resolver
uniprot_sec
Q9BYM7
resolver
uniprot_sec
Q9H140
resolver
amino_acid_sequence
MALRSAQGDGPTSGHWDGGAEKADFNAKRKKKVAEIHQALNSDPTDVAALRRMAISEGGLLTDEIRRKVWPKLLNVNANDPPPISGKNLRQMSKDYQQVLLDVRRSLRRFPPGMPEEQREGLQEELIDIILLILERNPQLHYYQGYHDIVVTFLLVVGERLATSLVEKLSTHHLRDFMDPTMDNTKHILNYLMPIIDQVNPELHDFMQSAEVGTIFALSWLITWFGHVLSDFRHVVRLYDFFLACHPLMPIYFAAVIVLYREQEVLDCDCDMASVHHLLSQIPQDLPYETLISRAGDLFVQFPPSELAREAAAQQQAERTAASTFKDFELASAQQRPDMVLRQRFRGLLRPEDRTKDVLTKPRTNRFVKLAVMGLTVALGAAALAVVKSALEWAPKFQLQLFP
uniprot
proteins
disease_involvement
DISEASE: Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:24239381}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: GTPase-activating protein (GAP) specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Also shows GAP activity for RAB18 GTPase (PubMed:26063829). Promotes RAB18 dissociation from the endoplasmic reticulum (ER) membrane into the cytosol, probably through stimulating RAB18 GTP-hydrolysis (PubMed:26063829). Involved in maintaining endoplasmic reticulum structure (PubMed:24891604). {ECO:0000269|PubMed:23236136, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829}.
uniprot
proteins
mass_dalton
45855
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="R->A: 1000-fold decrease in GAP activity."; /evidence="ECO:0000269|PubMed:23236136"; MUTAGEN 144; /note="Q->L: 1000-fold decrease in GAP activity."; /evidence="ECO:0000269|PubMed:23236136
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17686842
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
23236136
uniprot
proteins
pubmed
24239381
uniprot
proteins
pubmed
24891604
uniprot
proteins
pubmed
26063829
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 367..387; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins