Gdi1 GDP dissociation inhibitor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gdi1provided by MGI
Official Full Name: GDP dissociation inhibitor 1provided by MGI
Primary source: MGI:MGI:99846
See related: Ensembl:ENSMUSG00000015291 AllianceGenome:MGI:99846
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GDIA; GDIalpha
Summary: Predicted to enable Rab GDP-dissociation inhibitor activity and small GTPase binding activity. Predicted to be involved in several processes, including Rab protein signal transduction; negative regulation of protein targeting to membrane; and regulation of axonogenesis. Located in myelin sheath. Is expressed in several structures, including liver; nervous system; placenta; sensory organ; and spleen. Used to study non-syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability; non-syndromic X-linked intellectual disability 41; and psychotic disorder. Orthologous to human GDI1 (GDP dissociation inhibitor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E14 (RPKM 251.0), whole brain E14.5 (RPKM 248.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.97 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (73348618..73355473)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (74305012..74311867)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse.
Title: Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse.
Study used cognitive protocols with high translational validity to human condition that target the functionality of cortico-striatal circuitry such as attention and stimulus selection ability with progressive degree of complexity; showed that that Gdi1-null mice are impaired in attention and associative learning processes.
Title: Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability.
Data confirm isolated adrenocorticotropin deficiency (IAD) as autoimmune disease; RABGDIA/Gdi1 (human or rat) exhibits characteristics of autoantigen in anterior pituitary; patients with IAD exhibit autoantibodies against RABGDIA/Gdi1.
Title: Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency.
A pivotal role of alphaGDI via specific RAB GTPases acting specifically in forebrain regions at the pre-synaptic sites involved in memory formation.
Title: Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections.
Lack of alphaGDI impairs synaptic vesicle biogenesis and recycling in the hippocampus.
Title: Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC17244P1 (e-PCR)
- UniSTS:271635

AW108110 (e-PCR)
- UniSTS:181301

GDI1 (e-PCR)
- UniSTS:264032

AI316502 (e-PCR)
- UniSTS:160886

D1S3695 (e-PCR)
- UniSTS:474273

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GDP-dissociation inhibitor activity	ISO Inferred from Sequence Orthology more info
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables Rab GDP-dissociation inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables Rab GDP-dissociation inhibitor activity	ISO Inferred from Sequence Orthology more info
enables Rab GDP-dissociation inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Rab protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein targeting to membrane	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of axon extension	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of toll-like receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in midbody	IEA Inferred from Electronic Annotation more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: rab GDP dissociation inhibitor alpha

Names: GDI-1; Rab GDIalpha; guanosine diphosphate (GDP) dissociation inhibitor 1; guanosine diphosphate dissociation inhibitor 1; rab GDI alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.