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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... See more...
Aliases for GDI1 Gene
Aliases for GDI1 Gene
External Ids for GDI1 Gene
- HGNC: 4226
- NCBI Entrez Gene: 2664
- Ensembl: ENSG00000203879
- OMIM®: 300104
- UniProtKB/Swiss-Prot: P31150
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
-
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 Non-Syndromic X-Linked Intellectual Disability 41 and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (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 Summary 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.
Additional gene information for GDI1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDI1 Gene
Genomics for GDI1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GDI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GDI1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDI1
- Top Transcription factor binding sites by QIAGEN in the GDI1 gene promoter:
-
- CREB
- deltaCREB
- Nkx2-5
- YY1
Genomic Locations for GDI1 Gene
Latest Assembly
- chrX:154,436,913-154,443,467
- (GRCh38/hg38)
- Size:
- 6,555 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:153,665,500-153,671,814
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 6,315 bases
- Orientation:
- Plus strand
Genomic View for GDI1 Gene
Genes around GDI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq28 by HGNC
- Xq28 by Entrez Gene
- Xq28 by Ensembl
GDI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- P50394
- Q6FG50
- Q7Z2G6
- Q7Z2G9
- Q7Z2H5
- Q7Z2I6
Protein attributes for GDI1 Gene
- Size:
- 447 amino acids
- Molecular mass:
- 50583 Da
- Quaternary structure:
-
- Interacts with RHOH (PubMed:11809807). Interacts with the non-phosphorylated forms of RAB1A, RAB3A, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:19570034, PubMed:23815289, PubMed:26824392, PubMed:29125462).
Protein Expression for GDI1 Gene
Post-translational modifications for GDI1 Gene
Other Protein References for GDI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences GDI1 Antibody
- G Biosciences Immunotag™ GDI1 Antibody
- Novus Biologicals Antibodies for GDI1
-
Abcam antibodies for GDI1
- Invitrogen Antibodies for GDI1 (AFLGC-GDI1)
-
Biorbyt antibodies for GDI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GDI1
- Sino Biological Antibodies for GDI1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for GDI1
- Origene Custom Protein Services for GDI1
- ProSpec Recombinant Proteins for GDI1
-
Abcam proteins for GDI1
Assay products for research
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
- InterPro:
- Blocks:
-
- Rab GDI protein signature
Suggested Antigen Peptide Sequences for GDI1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52902, highly similar to Rab GDP dissociation inhibitor alpha (B4DHX4_HUMAN)
- Protein XAP-4 (GDIA_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P31150- Family:
-
- Belongs to the Rab GDI family.
Function for GDI1 Gene
Molecular function for GDI1 Gene
- 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.
- 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)
Phenotypes From GWAS Catalog for GDI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005092 | GDP-dissociation inhibitor activity | IEA,TAS | 7849400 |
| GO:0005093 | Rab GDP-dissociation inhibitor activity | IEA,ISS | -- |
| GO:0005096 | GTPase activator activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11809807 |
| GO:0031267 | small GTPase binding | IEA | -- |
Phenotypes for GDI1 Gene
- MGI mutant phenotypes for GDI1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GDI1:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability after Maraba virus infection
- Decreased viability
- Increased epidermal growth factor (EGF) endosome number, increased epidermal growth factor (EGF) endosome elongation
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased peripheral FA formation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GDI1 - Starting at $85 >
- * GDI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GDI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GDI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GDI1
miRNA for GDI1 Gene
- miRTarBase miRNAs that target GDI1
-
- hsa-miR-34a-5p (MIRT025345)
- hsa-miR-26b-5p (MIRT029357)
- hsa-miR-222-3p (MIRT046698)
- hsa-miR-92a-2-5p (MIRT366293)
- hsa-miR-151a-5p (MIRT366294)
- hsa-miR-625-5p (MIRT366295)
- hsa-miR-151b (MIRT366296)
- hsa-miR-1233-3p (MIRT366298)
- hsa-miR-1275 (MIRT366299)
- hsa-miR-4271 (MIRT366301)
- hsa-miR-3605-5p (MIRT366302)
- hsa-miR-4447 (MIRT366305)
- hsa-miR-3135b (MIRT366306)
- hsa-miR-4472 (MIRT366307)
- hsa-miR-4665-5p (MIRT366308)
- hsa-miR-4687-5p (MIRT366309)
- hsa-miR-4725-3p (MIRT366310)
- hsa-miR-2467-3p (MIRT366312)
- hsa-miR-6828-5p (MIRT366313)
- hsa-miR-6780b-5p (MIRT366314)
- hsa-miR-6847-5p (MIRT366315)
- hsa-miR-654-5p (MIRT379657)
- hsa-miR-541-3p (MIRT379658)
- hsa-miR-6769a-5p (MIRT379666)
- hsa-miR-6769b-5p (MIRT379668)
- hsa-miR-5010-5p (MIRT508515)
- hsa-miR-7111-5p (MIRT508516)
- hsa-miR-4525 (MIRT508517)
- hsa-miR-6870-5p (MIRT508518)
- hsa-miR-5698 (MIRT508519)
- hsa-miR-4723-5p (MIRT508520)
- hsa-miR-8059 (MIRT508521)
- hsa-miR-4471 (MIRT508522)
- hsa-miR-1292-5p (MIRT508523)
- hsa-miR-505-5p (MIRT508524)
- hsa-miR-1287-5p (MIRT508525)
- hsa-miR-611 (MIRT508526)
- hsa-miR-3131 (MIRT508527)
- mmu-miR-692 (MIRT583327)
- mmu-miR-466h-3p (MIRT587139)
- hsa-miR-2278 (MIRT739130)
- hsa-miR-298 (MIRT739539)
- hsa-miR-328-5p (MIRT741289)
- hsa-miR-4278 (MIRT743685)
- hsa-miR-4468 (MIRT744922)
- hsa-miR-4651 (MIRT746547)
- hsa-miR-6077 (MIRT751703)
- hsa-miR-608 (MIRT751984)
- hsa-miR-6501-3p (MIRT752897)
- hsa-miR-6756-5p (MIRT754791)
- hsa-miR-6766-5p (MIRT755099)
- hsa-miR-6782-5p (MIRT755701)
- hsa-miR-6789-5p (MIRT756013)
- hsa-miR-6795-5p (MIRT756131)
- hsa-miR-6803-5p (MIRT756401)
- hsa-miR-6824-5p (MIRT756941)
- hsa-miR-6885-5p (MIRT758539)
- hsa-miR-6887-5p (MIRT758589)
- hsa-miR-7109-5p (MIRT758950)
- hsa-miR-8485 (MIRT760285)
- hsa-miR-186-3p (MIRT763191)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GDI1
- Browse OriGene Inhibitory RNA Products For GDI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDI1
Clone products for research
- Applied Biological Materials (abm): Clones for GDI1 - Starting at $45 >
- * GDI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GDI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GDI1
Cell Lines for research
-
Horizon Cell Lines for GDI1
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030424 | axon | IEA | -- |
| GO:0030496 | midbody | IDA | 15166316 |
Pathways & Interactions for GDI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | RAB GEFs exchange GTP for GDP on RABs | ||
| 3 | p75 NTR receptor-mediated signalling |
.36
|
|
| 4 | Signaling by GPCR | ||
| 5 | Signaling by Rho GTPases | ||
Pathways by source for GDI1 Gene
2 BioSystems pathways for GDI1 Gene
6 Reactome pathways for GDI1 Gene
1 GeneGo (Thomson Reuters) pathway for GDI1 Gene
- Transport Clathrin-coated vesicle cycle
Interacting Proteins for GDI1 Gene
Selected Interacting proteins:
P31150-GDIA_HUMAN
ENSP00000394071
for GDI1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GDI1
| 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:0016192 | vesicle-mediated transport | IBA | 21873635 |
| GO:0032482 | Rab protein signal transduction | ISS | -- |
No data available for SIGNOR curated interactions for GDI1 Gene
Transcripts for GDI1 Gene
mRNA/cDNA for GDI1 Gene
- 1 REFSEQ mRNAs :
- 26 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000415109 560 nts (view in UCSC)
- ENST00000434049 816 nts (view in UCSC)
- ENST00000445564 568 nts (view in UCSC)
- ENST00000447750 2240 nts (view in UCSC)
- ENST00000460984 552 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GDI1 - Starting at $85 >
- * GDI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GDI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GDI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GDI1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GDI1
- Browse OriGene Inhibitory RNA Products For GDI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDI1
Clone products for research
- Applied Biological Materials (abm): Clones for GDI1 - Starting at $45 >
- * GDI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GDI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GDI1
Relevant External Links for GDI1 Gene
- GeneLoc Exon Structure for
- GDI1
Expression 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, MaxQB, and MOPED for GDI1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDI1
SOURCE GeneReport for Unigene cluster for GDI1 Gene:
Hs.74576mRNA Expression by UniProt/SwissProt for GDI1 Gene:
P31150-GDIA_HUMAN
Tissue specificity:
Brain; predominant in neural and sensory tissues.
Evidence on tissue expression from TISSUES for GDI1 Gene
- Nervous system(5)
- Lung(4.8)
- Eye(4.7)
- Skin(4.6)
- Liver(4.5)
- Kidney(4.3)
- Intestine(3.6)
- Spleen(3.5)
- Muscle(2.9)
- Blood(2.6)
- Pancreas(2.4)
- Heart(2.4)
- Adrenal gland(2.1)
- Lymph node(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GDI1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
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
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
- testicle
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for GDI1
-
OriGene qPCR primer pairs and template standards for GDI1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GDI1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GDI1 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GDI1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GDI1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gdi1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gdi1 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GDI1 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GDI1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gdi1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gdi1 29 30 |
|
OneToOne | |
| wufc09e02 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Gdi 29 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010025 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | gdi-1 29 30 31 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR183C 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDI1 29 30 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09185g 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GDI2 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0418000 29 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.5495 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU05288 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gdi1 29 |
|
- 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for GDI1: view image
- Alliance of Genome Resources:
- Additional Orthologs for GDI1
Paralogs for GDI1 Gene
Variants for GDI1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDI1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 932650 | Likely Benign: not provided | 154,440,023(+) |
C/T NM_001493.3(GDI1):c.471C>T (p.Thr157=) |
SYNONYMOUS | |
| 975399 | Pathogenic: X-Linked Mental Retardation 41 | 154,442,177(+) |
CCAGCA/C NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) |
FRAMESHIFT | |
| 976035 | Likely Pathogenic: X-Linked Mental Retardation 41 | 154,441,162(+) |
CG/C NM_001493.3(GDI1):c.788del (p.Gly263fs) |
FRAMESHIFT | |
| 976430 | Pathogenic: Intellectual disability; X-Linked Mental Retardation 41 | 154,442,406(+) |
T/TTGATACA NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) |
NONSENSE | |
| 977689 | Uncertain Significance: not specified | 154,442,515(+) |
T/C NM_001493.3(GDI1):c.1192-5T>C |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for GDI1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDI1 Gene
Disorders for GDI1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| non-syndromic x-linked intellectual disability 41 |
|
|
| non-syndromic x-linked intellectual disability |
|
|
| disease of mental health |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| lubs x-linked mental retardation syndrome |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for GDI1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GDI1 Gene
Publications for GDI1 Gene
- 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 72
- Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. (PMID: 9668174) Bienvenu T … Chelly J (Human molecular genetics 1998) 3 4 72
- 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
- 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
- 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
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Sources for GDI1 Gene
- (1) GeneCards
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