GDI1 Gene

HGNC Family	X-linked mental retardation
Name	GDP dissociation inhibitor 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GDP‐dissociation inhibitor 1 (GDI1) is a key regulator of small GTPases that ensures proper cycling and localization of Rab proteins—and, to some extent, Rho family members—thereby governing vesicular trafficking and membrane recycling. Studies have shown that GDI1 facilitates the extraction and recycling of Rab GTPases from membranes, a process that is essential for synchronized intracellular trafficking events such as synaptic vesicle cycling and GLUT4 translocation in insulin‐responsive cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In endothelial cells, regulation of RhoA activation depends on GDI1: phosphorylation of its C terminus reduces its affinity for RhoA, ultimately allowing RhoA to become active and modulate cytoskeletal reorganization and vascular permeability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In the nervous system, proper GDI1 function is crucial for neuronal development and synaptic vesicle recycling; indeed, both point mutations and copy number alterations in GDI1 have been linked to non‐syndromic X‐linked intellectual disability and cognitive impairment"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "and"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", with recent genetic studies further implicating GDI1 dosage variations in neurodevelopmental syndromes characterized by language deficits and learning difficulties"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "as well as associations with intelligence levels."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, abnormal GDI1 expression, possibly induced by other pathogenic processes, can impair Rab11‐mediated post‐Golgi trafficking, thereby linking altered GDI1 function to disruptions in intracellular transport, which may further aggravate the neurological phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Genomic investigations into synaptic vesicle cycling disorders also support a role for GDI1 among a broader network of regulators that, when mutated, give rise to a spectrum of neurodevelopmental and cognitive deficits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yu Chen, Yongqiang Deng, Jinzhong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GDI-1 preferably interacts with Rab10 in insulin-stimulated GLUT4 translocation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20090624"}], "href": "https://doi.org/10.1042/BJ20090624"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19570034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19570034"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nebojsa Knezevic, Arun Roy, Barbara Timblin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GDI-1 phosphorylation switch at serine 96 induces RhoA activation and increased endothelial permeability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00523-07"}], "href": "https://doi.org/10.1128/MCB.00523-07"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17636025"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17636025"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "P D'Adamo, A Menegon, C Lo Nigro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GDI1 are responsible for X-linked non-specific mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (1998)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/487"}], "href": "https://doi.org/10.1038/487"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "9620768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/9620768"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yongheng Duan, Sheng Lin, Lichun Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Mol Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1590/1678-4685-GMB-2016-0249"}], "href": "https://doi.org/10.1590/1678-4685-GMB-2016-0249"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28863211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28863211"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13565"}], "href": "https://doi.org/10.1111/cge.13565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31090057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31090057"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ke-Jin Zhang, Yun DU, Zi-Jian Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Relationship between the polymorphisms of GDI1, children NSMR and their intelligence in Qinba region]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Yi Chuan (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3724/sp.j.1005.2008.00590"}], "href": "https://doi.org/10.3724/sp.j.1005.2008.00590"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18487148"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18487148"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tania Massignan, Emiliano Biasini, Eliana Lauranzano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Proteomics (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/mcp.M900271-MCP200"}], "href": "https://doi.org/10.1074/mcp.M900271-MCP200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19996123"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19996123"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Abinayah John, Elise Ng-Cordell, Nancy Hanna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The neurodevelopmental spectrum of synaptic vesicle cycling disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurochem (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jnc.15135"}], "href": "https://doi.org/10.1111/jnc.15135"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32738165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32738165"}]}]}]}
Synonyms	MRX41, GDIL, XAP-4, OPHN2, 1A, RABGD1A, RABGDIA, MRX48
Proteins	GDIA_HUMAN
NCBI Gene ID	2664
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GDI1 has 6,139 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 124 datasets.

Click the + buttons to view associations for GDI1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GDI1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GDI1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GDI1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GDI1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GDI1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GDI1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GDI1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GDI1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GDI1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GDI1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GDI1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GDI1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GDI1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GDI1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GDI1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GDI1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with GDI1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with GDI1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GDI1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GDI1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GDI1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GDI1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GDI1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of GDI1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GDI1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GDI1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GDI1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of GDI1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GDI1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving GDI1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GDI1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GDI1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GDI1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GDI1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GDI1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for GDI1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GDI1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GDI1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GDI1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing GDI1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of GDI1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.