GDI1 (GDP dissociation inhibitor 1)

2007-02-01  

Identity

HGNC
GDI1
LOCATION
Xq28
LOCUSID
2664
ALIAS
1A,GDIL,MRX41,MRX48,OPHN2,RABGD1A,RABGDIA,XAP-4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2664
MIM: 300104
HGNC: 4226
Ensembl: ENSG00000203879

Variants:

dbSNP: 2664
ClinVar: 2664
TCGA: ENSG00000203879
COSMIC: GDI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203879ENST00000415109F8WCU0
ENSG00000203879ENST00000434049G5E9U5
ENSG00000203879ENST00000445564F8WE59
ENSG00000203879ENST00000447750P31150
ENSG00000203879ENST00000447750A0A0S2Z3X8
ENSG00000203879ENST00000630693G5E9U5

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380131212024GDP dissociation inhibitor 1 (GDI1) attenuates β-amyloid-induced neurotoxicity in Alzheimer's diseases.0
380131212024GDP dissociation inhibitor 1 (GDI1) attenuates β-amyloid-induced neurotoxicity in Alzheimer's diseases.0
342521342021The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.11
345156252021Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.2
342521342021The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.11
345156252021Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.2
253461442015Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency.9
256943522015Tumor-specific mutations in low-frequency genes affect their functional properties.8
253461442015Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency.9
256943522015Tumor-specific mutations in low-frequency genes affect their functional properties.8
231405042012RabGDI controls axonal midline crossing by regulating Robo1 surface expression.34
231405042012RabGDI controls axonal midline crossing by regulating Robo1 surface expression.34
217360092011Mutations in GDI1 and X-linked non-specific mental retardation.0
220029312011Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.7
217360092011Mutations in GDI1 and X-linked non-specific mental retardation.0

Citation

Dessen P

GDI1 (GDP dissociation inhibitor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45753/img/gene-fusions-explorer/case-report-explorer/