Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
300104 4226 ENSG00000203879
Protein Protein information from UniProt database.
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.
  Reactome
    Rho GTPase cycle
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic rs2068757385 RCV001255375
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 41 Likely pathogenic; Pathogenic rs2148226455, rs2148228335, rs2523030418, rs121434608, rs121434609, rs2523033056, rs398122814, rs2068755805, rs2068750338, rs2068757385 RCV001808300
RCV002238601
RCV002283628
RCV000012393
RCV000012394
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma Likely pathogenic rs2148226455 RCV005922638
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 8826463 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19072283 Associate
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 24768552
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 24768552 Associate
★☆☆☆☆
Found in Text Mining only