GDI1 (GDP dissociation inhibitor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2664
Gene name GDP dissociation inhibitor 1
Gene symbol GDI1
Synonyms (NCBI Gene)
1AGDILMRX41MRX48OPHN2RABGD1ARABGDIAXAP-4XLID41
Chromosome X
Chromosome location Xq28
Summary 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
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121434607 T>C Pathogenic Coding sequence variant, missense variant
rs121434608 C>T Pathogenic Coding sequence variant, stop gained
rs1557198566 T>C Likely-pathogenic Missense variant, coding sequence variant
rs1557198821 G>A Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
471
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (471)
miRTarBase ID miRNA Experiments Reference
MIRT025345 hsa-miR-34a-5p Proteomics 21566225
MIRT025345 hsa-miR-34a-5p Proteomics 21566225
MIRT025345 hsa-miR-34a-5p Proteomics 21566225
MIRT025345 hsa-miR-34a-5p Proteomics 21566225
MIRT029357 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0005092 Function GDP-dissociation inhibitor activity IDA 35343654
GO:0005092 Function GDP-dissociation inhibitor activity IEA
GO:0005092 Function GDP-dissociation inhibitor activity TAS 7849400
GO:0005093 Function Rab GDP-dissociation inhibitor activity IBA
GO:0005093 Function Rab GDP-dissociation inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300104 4226 ENSG00000203879
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31150
Protein name Rab GDP dissociation inhibitor alpha (Rab GDI alpha) (Guanosine diphosphate dissociation inhibitor 1) (GDI-1) (Oligophrenin-2) (Protein XAP-4)
Protein 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 act
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00996 GDI 1 → 436 GDP dissociation inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Brain; predominant in neural and sensory tissues. {ECO:0000269|PubMed:7543319}.
Sequence
Sequence length 447
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Rho GTPase cycle
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs2068757385 RCV001255375
Intellectual disability, X-linked 41 Likely pathogenic; Pathogenic rs2148226455, rs2148228335, rs2523030418, rs121434608, rs121434609, rs2523033056, rs398122814, rs2068755805, rs2068750338, rs2068757385 RCV001808300
RCV002238601
RCV002283628
RCV000012393
RCV000012394
RCV004560487
RCV000022824
RCV001252003
RCV001253206
RCV001253739
Ovarian serous cystadenocarcinoma Likely pathogenic rs2148226455 RCV005922638
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs113696246 RCV005888086
Cervical cancer Likely benign rs185552165 RCV005900760
Clear cell carcinoma of kidney Benign rs113696246 RCV005888087
Familial cancer of breast Benign rs113696246 RCV005888085
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 8826463
Alzheimer Disease Associate 19072283
Autistic Disorder Associate 24768552
Cognition Disorders Associate 20004760
Colorectal Neoplasms Associate 34515625
Creutzfeldt Jakob Disease Sporadic Associate 23070823
Death Associate 34515625
Developmental Disabilities Associate 24768552
Intellectual Disability Associate 20004760, 8826463
Lubs X linked mental retardation syndrome Associate 20004760