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GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]
GDI1 (GDP Dissociation Inhibitor 1) is a Protein Coding gene. Diseases associated with GDI1 include Non-Syndromic X-Linked Intellectual Disability and Epileptic Encephalopathy, Early Infantile, 8. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and GDP-dissociation inhibitor activity. An important paralog of this gene is GDI2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005092 | GDP-dissociation inhibitor activity | IEA,TAS | 7849400 |
GO:0005093 | Rab GDP-dissociation inhibitor activity | IEA,ISS | -- |
GO:0005096 | GTPase activator activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11809807 |
GO:0017137 | Rab GTPase binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0030424 | axon | IEA | -- |
GO:0030496 | midbody | IDA | 15166316 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | RAB GEFs exchange GTP for GDP on RABs | ||
3 | p75 NTR receptor-mediated signalling |
.36
|
|
4 | Signaling by GPCR | ||
5 | Signaling by Rho GTPases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | TAS | 7543319 |
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
GO:0032482 | Rab protein signal transduction | ISS | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GDI1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GDI1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GDI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GDI1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gdi1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gdi1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GDI1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GDI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gdi1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gdi1 30 31 |
|
OneToOne | |
wufc09e02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Gdi 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010025 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | gdi-1 30 31 32 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR183C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDI1 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09185g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GDI2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0418000 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.5495 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05288 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gdi1 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724714 | Benign: not provided | 154,441,739(+) | C/T | SYNONYMOUS_VARIANT | |
727515 | Benign: not provided | 154,440,002(+) | C/T | SYNONYMOUS_VARIANT | |
741787 | Benign: not provided | 154,441,147(+) | C/T | SYNONYMOUS_VARIANT | |
748004 | Benign: not provided | 154,442,107(+) | C/T | INTRON_VARIANT | |
753057 | Likely Benign: not provided | 154,440,432(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
non-syndromic x-linked intellectual disability |
|
|
epileptic encephalopathy, early infantile, 8 |
|
|
lubs x-linked mental retardation syndrome |
|
|
mental retardation, x-linked, syndromic 13 |
|
|
rett syndrome |
|
|