Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2664
Gene name Gene Name - the full gene name approved by the HGNC.
GDP dissociation inhibitor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDI1
Synonyms (NCBI Gene) Gene synonyms aliases
1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4, XLID41
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300104 4226 ENSG00000203879
Protein
UniProt ID 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.
  Reactome
    Rho GTPase cycle
RAB GEFs exchange GTP for GDP on RABs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 41 rs121434608, rs121434609, rs398122814 N/A
Associations from Text Mining Disease 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