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Aliases for GDI1 Gene

Aliases for GDI1 Gene

  • GDP Dissociation Inhibitor 1 2 3 5
  • Guanosine Diphosphate Dissociation Inhibitor 1 3 4
  • Rab GDP-Dissociation Inhibitor, Alpha 2 3
  • Mental Retardation, X-Linked 48 2 3
  • Oligophrenin-2 3 4
  • Protein XAP-4 3 4
  • Rab GDI Alpha 3 4
  • RABGDIA 3 4
  • GDI-1 3 4
  • OPHN2 3 4
  • GDIL 3 4
  • Testis Secretory Sperm-Binding Protein Li 208a 3
  • Rab GDP Dissociation Inhibitor Alpha 3
  • Mental Retardation, X-Linked 41 2
  • RABGD1A 3
  • XAP-4 3
  • MRX41 3
  • MRX48 3
  • XAP4 4
  • 1A 3

External Ids for GDI1 Gene

Previous HGNC Symbols for GDI1 Gene

  • MRX48
  • MRX41
  • GDIL

Previous GeneCards Identifiers for GDI1 Gene

  • GC0XP147728
  • GC0XP150046
  • GC0XP151251
  • GC0XP152133
  • GC0XP153234
  • GC0XP153318
  • GC0XP153665
  • GC0XP142218

Summaries for GDI1 Gene

Entrez Gene Summary for GDI1 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 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]

GeneCards Summary for GDI1 Gene

GDI1 (GDP Dissociation Inhibitor 1) is a Protein Coding gene. Diseases associated with GDI1 include X-Linked Non-Specific Intellectual Disability and Tumor Of Exocrine Pancreas. Among its related pathways are Signaling mediated by p38-alpha and p38-beta and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include GTPase activator activity and GDP-dissociation inhibitor activity. An important paralog of this gene is GDI2.

UniProtKB/Swiss-Prot for GDI1 Gene

  • 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 activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.

Gene Wiki entry for GDI1 Gene

Additional gene information for GDI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDI1 Gene

Genomics for GDI1 Gene

Regulatory Elements for GDI1 Gene

Enhancers for GDI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH153900 1.6 FANTOM5 Ensembl ENCODE 14.1 -534.4 -534409 4.2 HDGF GLI4 TCF12 ZNF766 GLIS2 GATA2 ZNF143 FOS REST ZNF658 SNORA70 HCFC1 EMD DKC1 TMEM187 SNORA56 LOC105373383 SLC10A3 PLXNA3 PLXNB3
GH0XH154595 0.9 Ensembl ENCODE 14.1 +159.7 159664 1.5 CTCF MAX CEBPB FEZF1 SALL2 RAD21 EP300 JUND SMC3 POU5F1 LOC105373383 GDI1 GAB3 PDZD4 L1CAM FAM3A ENSG00000232155 CTAG1A
GH0XH154483 1 ENCODE 12.2 +48.9 48922 3.8 PKNOX1 ATF1 ARNT SIN3A ZBTB7B ZNF766 GLIS2 ELK1 FOS ATF7 FAM3A FAM50A GDI1 ATP6AP1 CH17-340M24.3 UBL4A GC0XM154482
GH0XH154325 0.8 Ensembl ENCODE 11.7 -109.9 -109933 2 OSR2 E2F1 GATA3 SCRT2 ZNF600 TRIM28 PLXNA3 ATP6AP1 CH17-340M24.3 GDI1 FAM50A DNASE1L1 GC0XP154343 GC0XP154344 PIR36226 TEX28
GH0XH154505 0.4 ENCODE 12.2 +69.2 69168 1.2 ZIC2 MAFK FAM3A IKBKG G6PD LAGE3 FAM50A GDI1 ATP6AP1 CH17-340M24.3 RENBP GC0XM154496
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDI1 on UCSC Golden Path with GeneCards custom track

Promoters for GDI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249674 387 1801 TBP RB1 KLF17 SIN3A YY1 GLIS2 SCRT2 ZNF143 RUNX3 CREM

Genomic Locations for GDI1 Gene

Genomic Locations for GDI1 Gene
6,555 bases
Plus strand

Genomic View for GDI1 Gene

Genes around GDI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDI1 Gene

Proteins for GDI1 Gene

  • Protein details for GDI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rab GDP dissociation inhibitor alpha
    Protein Accession:
    Secondary Accessions:
    • P50394
    • Q6FG50
    • Q7Z2G6
    • Q7Z2G9
    • Q7Z2H5
    • Q7Z2I6

    Protein attributes for GDI1 Gene

    447 amino acids
    Molecular mass:
    50583 Da
    Quaternary structure:
    • Interacts with RHOH. Interacts with RAB1A, RAB3A, RAB5A and RAB10.

neXtProt entry for GDI1 Gene

Post-translational modifications for GDI1 Gene

  • Ubiquitination at isoforms=54, posLast=278278, and posLast=435435
  • Modification sites at PhosphoSitePlus

Other Protein References for GDI1 Gene

No data available for DME Specific Peptides for GDI1 Gene

Domains & Families for GDI1 Gene

Gene Families for GDI1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GDI1 Gene

Suggested Antigen Peptide Sequences for GDI1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Rab GDI family.
  • Belongs to the Rab GDI family.
genes like me logo Genes that share domains with GDI1: view

Function for GDI1 Gene

Molecular function for GDI1 Gene

GENATLAS Biochemistry:
RhoA/Rab GDI (GDP-dissociation inhibitor) p155,23kDa,ligand for presenilin 1 (PSEN1),also expressed predominantly in neural and sensory tissues,involved in the regulation of vesicle-mediated cellular transport,also in neuronal differentiation and brain development (signal transduction)
UniProtKB/Swiss-Prot 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 activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.

Phenotypes From GWAS Catalog for GDI1 Gene

Gene Ontology (GO) - Molecular Function for GDI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005092 GDP-dissociation inhibitor activity TAS 7849400
GO:0005093 Rab GDP-dissociation inhibitor activity ISS,IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11809807
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with GDI1: view
genes like me logo Genes that share phenotypes with GDI1: view

Human Phenotype Ontology for GDI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDI1 Gene

MGI Knock Outs for GDI1:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GDI1 Gene

Localization for GDI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDI1 Gene

Cytoplasm. Golgi apparatus, trans-Golgi network.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDI1 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GDI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with GDI1: view

Pathways & Interactions for GDI1 Gene

genes like me logo Genes that share pathways with GDI1: view

Pathways by source for GDI1 Gene

Gene Ontology (GO) - Biological Process for GDI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 7543319
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0032482 Rab protein signal transduction ISS --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with GDI1: view

No data available for SIGNOR curated interactions for GDI1 Gene

Drugs & Compounds for GDI1 Gene

(2) Drugs for GDI1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(4) Additional Compounds for GDI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDI1: view

Transcripts for GDI1 Gene

Unigene Clusters for GDI1 Gene

GDP dissociation inhibitor 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDI1 Gene

No ASD Table

Relevant External Links for GDI1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GDI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDI1 Gene

Protein differential expression in normal tissues from HIPED for GDI1 Gene

This gene is overexpressed in Fetal Brain (9.0), Spinal cord (8.4), Frontal cortex (7.1), and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GDI1 Gene

Protein tissue co-expression partners for GDI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GDI1 Gene:


SOURCE GeneReport for Unigene cluster for GDI1 Gene:


mRNA Expression by UniProt/SwissProt for GDI1 Gene:

Tissue specificity: Brain; predominant in neural and sensory tissues.

Evidence on tissue expression from TISSUES for GDI1 Gene

  • Nervous system(5)
  • Eye(4.8)
  • Lung(4.8)
  • Skin(4.5)
  • Liver(4.3)
  • Kidney(4.1)
  • Intestine(3.6)
  • Spleen(3.5)
  • Muscle(2.4)
  • Pancreas(2.4)
  • Blood(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • testicle
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GDI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GDI1 Gene

Orthologs for GDI1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GDI1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GDI1 33 34
  • 99.7 (n)
(Monodelphis domestica)
Mammalia GDI1 34
  • 96 (a)
(Bos Taurus)
Mammalia GDI1 33 34
  • 92.99 (n)
(Canis familiaris)
Mammalia GDI1 33
  • 92.17 (n)
(Mus musculus)
Mammalia Gdi1 33 16 34
  • 90.83 (n)
(Rattus norvegicus)
Mammalia Gdi1 33
  • 90.68 (n)
(Ornithorhynchus anatinus)
Mammalia GDI1 34
  • 80 (a)
(Anolis carolinensis)
Reptilia GDI1 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdi1 33
  • 80.61 (n)
(Danio rerio)
Actinopterygii gdi1 33 34
  • 79.49 (n)
wufc09e02 33
fruit fly
(Drosophila melanogaster)
Insecta Gdi 35 33 34
  • 66.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010025 33
  • 66.29 (n)
(Caenorhabditis elegans)
Secernentea gdi-1 35 33 34
  • 63.67 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR183C 33
  • 60.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 33 34
  • 56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09185g 33
  • 54.59 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GDI2 33
  • 59.22 (n)
(Oryza sativa)
Liliopsida Os05g0418000 33
  • 58.88 (n)
(Zea mays)
Liliopsida Zm.5495 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05288 33
  • 61.81 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gdi1 33
  • 53.91 (n)
Species where no ortholog for GDI1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GDI1 Gene

Gene Tree for GDI1 (if available)
Gene Tree for GDI1 (if available)

Paralogs for GDI1 Gene

Paralogs for GDI1 Gene

(1) SIMAP similar genes for GDI1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GDI1: view

Variants for GDI1 Gene

Sequence variations from dbSNP and Humsavar for GDI1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs121434607 Pathogenic, Mental retardation, X-linked 41 (MRX41) [MIM:300849] 154,439,027(+) GCTAC(C/T)GTATA reference, missense
rs121434609 Pathogenic, Mental retardation, X-linked 41 (MRX41) [MIM:300849] 154,442,596(+) CAAAC(C/G)CATGG upstream-variant-2KB, reference, missense
rs121434608 Pathogenic 154,438,819(+) GAGGC(C/T)GAGAC reference, stop-gained
rs398122814 Pathogenic 154,442,421(+) TTGTG(-/AG)AGCCA upstream-variant-2KB, reference, frameshift-variant
rs878853275 Pathogenic 154,435,762(+) TGGAT(A/G)GGGCT upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GDI1 Gene

Variant ID Type Subtype PubMed ID
nsv519042 CNV gain 19592680
esv3575039 CNV loss 25503493
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407

Variation tolerance for GDI1 Gene

Residual Variation Intolerance Score: 7.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDI1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDI1 Gene

Disorders for GDI1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GDI1 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
tumor of exocrine pancreas
  • malignant neoplasm of the exocrine pancreas
mohr-tranebjaerg syndrome
  • deafness dystonia syndrome
mental retardation, x-linked, syndromic 13
  • x-linked intellectual disability-psychosis-macroorchidism syndrome
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search GDI1 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, X-linked 41 (MRX41) [MIM:300849]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:9620768, ECO:0000269 PubMed:9668174}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GDI1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GDI1: view

No data available for Genatlas for GDI1 Gene

Publications for GDI1 Gene

  1. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. (PMID: 9620768) D'Adamo P … Toniolo D (Nature genetics 1998) 3 4 22 60
  2. Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. (PMID: 7543319) Bächner D … Poustka A (Human molecular genetics 1995) 2 3 4 60
  3. Cloning of a brain-type isoform of human Rab GDI and its expression in human neuroblastoma cell lines and tumor specimens. (PMID: 7585614) Nishimura N … Sano K (Cancer research 1995) 3 4 22 60
  4. Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI). (PMID: 7849400) Sedlacek Z … Poustka A (Mammalian genome : official journal of the International Mammalian Genome Society 1994) 2 3 4 60
  5. Rab1a and Rab5a preferentially bind to binary lipid compositions with higher stored curvature elastic energy. (PMID: 23815289) Kirsten ML … Ces O (Molecular membrane biology 2013) 3 4 60

Products for GDI1 Gene

Sources for GDI1 Gene

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