Human Gene GDI1 (uc004fli.4) Description and Page Index
Description: Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA. RefSeq Summary (NM_001493): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HM005621.1, SRR3476690.997560.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000447750.7/ ENSP00000394071.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chrX:153,665,259-153,671,814 Size: 6,556 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chrX:153,665,601-153,671,019 Size: 5,419 Coding Exon Count: 11
ID:GDIA_HUMAN DESCRIPTION: RecName: Full=Rab GDP dissociation inhibitor alpha; Short=Rab GDI alpha; AltName: Full=Guanosine diphosphate dissociation inhibitor 1; Short=GDI-1; AltName: Full=Oligophrenin-2; AltName: Full=Protein XAP-4; 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. SUBUNIT: Interacts with RHOH. Interacts with RAB10; negatively regulates RAB10 association with membranes and activation. SUBCELLULAR LOCATION: Cytoplasm (By similarity). TISSUE SPECIFICITY: Brain; predominant in neural and sensory tissues. DISEASE: Defects in GDI1 are the cause of mental retardation X- linked type 41 (MRX41) [MIM:300849]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. SIMILARITY: Belongs to the Rab GDI family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRX3";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GDI1 CDC HuGE Published Literature: GDI1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P31150
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.