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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
  • 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 48 3
  • Rab GDP-Dissociation Inhibitor 2
  • Mental Retardation 2
  • X-Linked 41 2
  • X-Linked 48 2
  • RABGD1A 3
  • Alpha 2
  • 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 mental retardation. [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 non-syndromic x-linked intellectual disability and tumor of exocrine pancreas. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include GTPase activator activity and GDP-dissociation inhibitor activity. An important paralog of this gene is CHML.

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

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

Genomics for GDI1 Gene

Regulatory Elements for GDI1 Gene

Promoters for GDI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GDI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GDI1 Gene

Chromosome:
X
Start:
154,436,913 bp from pter
End:
154,443,467 bp from pter
Size:
6,555 bases
Orientation:
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:
    P31150-GDIA_HUMAN
    Recommended name:
    Rab GDP dissociation inhibitor alpha
    Protein Accession:
    P31150
    Secondary Accessions:
    • P50394
    • Q6FG50
    • Q7Z2G6
    • Q7Z2G9
    • Q7Z2H5
    • Q7Z2I6

    Protein attributes for GDI1 Gene

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

neXtProt entry for GDI1 Gene

Proteomics data for GDI1 Gene at MOPED

Post-translational modifications for GDI1 Gene

  • Ubiquitination at Lys 54, Lys 278, and Lys 435
  • Modification sites at PhosphoSitePlus

Other Protein References for GDI1 Gene

Antibody Products

No data available for DME Specific Peptides for GDI1 Gene

Domains & Families for GDI1 Gene

Gene Families for GDI1 Gene

Protein Domains for GDI1 Gene

Suggested Antigen Peptide Sequences for GDI1 Gene

Graphical View of Domain Structure for InterPro Entry

P31150

UniProtKB/Swiss-Prot:

GDIA_HUMAN :
  • Belongs to the Rab GDI family.
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.

Gene Ontology (GO) - Molecular Function for GDI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
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

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

COMPARTMENTS
Jensen Localization Image for GDI1 Gene COMPARTMENTS Subcellular localization image for GDI1 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GDI1 Gene

Pathways & Interactions for GDI1 Gene

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

Pathways by source for GDI1 Gene

1 GeneGo (Thomson Reuters) pathway for GDI1 Gene

Gene Ontology (GO) - Biological Process for GDI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0051592 response to calcium ion IEA --
GO:0090315 negative regulation of protein targeting to membrane IMP 23815289
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

(3) Drugs for GDI1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Geran-8-Yl Geran Experimental Pharma Target 0
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:

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

No ASD Table

Relevant External Links for GDI1 Gene

GeneLoc Exon Structure for
GDI1
ECgene alternative splicing isoforms for
GDI1

Expression for GDI1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for GDI1 Gene



SOURCE GeneReport for Unigene cluster for GDI1 Gene Hs.74576

mRNA Expression by UniProt/SwissProt for GDI1 Gene

P31150-GDIA_HUMAN
Tissue specificity: Brain; predominant in neural and sensory tissues.
genes like me logo Genes that share expression patterns with GDI1: view

Protein tissue co-expression partners for GDI1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia GDI1 35
  • 99.7 (n)
  • 100 (a)
GDI1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDI1 36
  • 98 (a)
OneToOne
GDI1 35
  • 92.99 (n)
  • 98.43 (a)
dog
(Canis familiaris)
Mammalia GDI1 35
  • 92.17 (n)
  • 97.99 (a)
mouse
(Mus musculus)
Mammalia Gdi1 36
  • 98 (a)
OneToOne
Gdi1 35
  • 90.83 (n)
  • 97.99 (a)
Gdi1 16
oppossum
(Monodelphis domestica)
Mammalia GDI1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDI1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdi1 35
  • 90.68 (n)
  • 98.66 (a)
lizard
(Anolis carolinensis)
Reptilia GDI1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdi1 35
  • 80.61 (n)
  • 92.84 (a)
zebrafish
(Danio rerio)
Actinopterygii gdi1 35
  • 79.49 (n)
  • 91.95 (a)
wufc09e02 35
gdi1 36
  • 92 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010025 35
  • 66.29 (n)
  • 67.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gdi 37
  • 68 (a)
Gdi 35
  • 66.74 (n)
  • 68.11 (a)
Gdi 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gdi-1 36
  • 63 (a)
OneToMany
gdi-1 37
  • 65 (a)
gdi-1 35
  • 63.67 (n)
  • 66.36 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR183C 35
  • 60.47 (n)
  • 57.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 35
  • 56 (n)
  • 56.47 (a)
GDI1 36
  • 53 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09185g 35
  • 54.59 (n)
  • 54.35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GDI2 35
  • 59.22 (n)
  • 57.67 (a)
corn
(Zea mays)
Liliopsida Zm.5495 35
rice
(Oryza sativa)
Liliopsida Os05g0418000 35
  • 58.88 (n)
  • 59.58 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05288 35
  • 61.81 (n)
  • 57.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gdi1 35
  • 53.91 (n)
  • 58.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for GDI1:
  • 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

ENSEMBL:
Gene Tree for GDI1 (if available)
TreeFam:
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
VAR_008130 Mental retardation, X-linked 41 (MRX41)
VAR_008131 Mental retardation, X-linked 41 (MRX41)
rs4834 -- 154,438,830(+) TGGAA(C/T)GTTGA reference, synonymous-codon
rs3747306 -- 154,441,422(-) CCCCC(A/C/G)CCCCC intron-variant
rs36034060 -- 154,441,108(+) CCATC(-/C)TATGG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680

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

HapMap Linkage Disequilibrium report
GDI1
Human Gene Mutation Database (HGMD)
GDI1

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: GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GDI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for GDI1 Gene

Publications for GDI1 Gene

  1. Expression patterns of two human genes coding for different rab GDP- dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. (PMID: 7543319) Bachner D. … Poustka A. (Hum. Mol. Genet. 1995) 2 3 4 67
  2. Defects in cytokinesis, actin reorganization and the contractile vacuole in cells deficient in RhoGDI. (PMID: 12198156) Rivero F. … Meyer A.K. (EMBO J. 2002) 3 23
  3. PRA1 inhibits the extraction of membrane-bound rab GTPase by GDI1. (PMID: 10751420) Hutt D.M. … Ngsee J.K. (J. Biol. Chem. 2000) 3 23
  4. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. (PMID: 9620768) D'Adamo P. … Toniolo D. (Nat. Genet. 1998) 3 23
  5. 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 Res. 1995) 3 23

Products for GDI1 Gene

Sources for GDI1 Gene

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