GDI1
entrez
2664
canonical
uniprot
P31150
canonical
ensembl
ENSG00000203879
resolver
ensp
ENSP00000394071
resolver
ensp
ENSP00000633477
resolver
enst
ENST00000447750
resolver
enst
ENST00000963418
resolver
genesymbol
GDI1
resolver
genesymbol_syn
GDIL
resolver
genesymbol_syn
OPHN2
resolver
genesymbol_syn
RABGDIA
resolver
genesymbol_syn
XAP4
resolver
hgnc
HGNC:4226
resolver
uniprot
A0A0S2Z3X8
resolver
uniprot
P50394
resolver
uniprot
Q6FG50
resolver
uniprot
Q7Z2G6
resolver
uniprot
Q7Z2G9
resolver
uniprot
Q7Z2H5
resolver
uniprot
Q7Z2I6
resolver
uniprot_entry
A0A0S2Z3X8_HUMAN
resolver
uniprot_entry
GDIA_HUMAN
resolver
uniprot_sec
P50394
resolver
uniprot_sec
Q6FG50
resolver
uniprot_sec
Q7Z2G6
resolver
uniprot_sec
Q7Z2G9
resolver
uniprot_sec
Q7Z2H5
resolver
uniprot_sec
Q7Z2I6
resolver
amino_acid_sequence
MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKRRFRKFLVFVANFDENDPKTFEGVDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYLYPLYGLGELPQGFARLSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRIICILSHPIKNTNDANSCQIIIPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEPIDQKFVAISDLYEPIDDGCESQVFCSCSYDATTHFETTCNDIKDIYKRMAGTAFDFENMKRKQNDVFGEAEQ
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 41 (XLID41) [MIM:300849]: 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. {ECO:0000269|PubMed:9620768, ECO:0000269|PubMed:9668174}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes. {ECO:0000269|PubMed:23815289}.
uniprot
proteins
mass_dalton
50583
uniprot
proteins
protein_family
Rab GDI family
uniprot
proteins
pubmed
11809807
uniprot
proteins
pubmed
12777533
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19570034
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23815289
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26824392
uniprot
proteins
pubmed
29125462
uniprot
proteins
pubmed
7543319
uniprot
proteins
pubmed
7585614
uniprot
proteins
pubmed
7849400
uniprot
proteins
pubmed
8733135
uniprot
proteins
pubmed
9620768
uniprot
proteins
pubmed
9668174
uniprot
proteins
sequence_length
447
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19570034}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:19570034}.
uniprot
proteins