Aliases for GDI1 Gene
Aliases for GDI1 Gene
External Ids for GDI1 Gene
- HGNC: 4226
- Entrez Gene: 2664
- Ensembl: ENSG00000203879
- OMIM: 300104
- UniProtKB: 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 X-Linked Non-Specific Intellectual Disability and Tumor Of Exocrine Pancreas. Among its related pathways are Integrated Breast Cancer Pathway and p75 NTR receptor-mediated signalling. 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 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
- Monarch Initiative
- Search for GDI1 at DataMed
- Search for GDI1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDI1 Gene
Genomics for GDI1 Gene
GeneHancer (GH) Regulatory Elements for GDI1 Gene
Promoters and enhancers for GDI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around GDI1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GDI1 gene promoter:
-
- CREB
- deltaCREB
- YY1
- Nkx2-5
Regulatory Element Products
Genomic Locations for GDI1 Gene
Genomic Locations for GDI1 Gene
- chrX:154,436,913-154,443,467
- (GRCh38/hg38)
- Size:
- 6,555 bases
- Orientation:
- Plus strand
- chrX:153,665,259-153,671,814
- (GRCh37/hg19)
- Size:
- 6,556 bases
- Orientation:
- Plus strand
Genomic View for GDI1 Gene
Genes around GDI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq28 by Entrez Gene
- Xq28 by HGNC
- 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. Interacts with RAB1A, RAB3A, RAB5A and RAB10.
Protein Expression for GDI1 Gene
Post-translational modifications for GDI1 Gene
Other Protein References for GDI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GDI1
- Invitrogen Antibodies for GDI1
- GeneTex GDI1 Antibody for GDI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GDI1
- Sino Biological Antibodies for GDI1
Protein Products
-
OriGene Purified Proteins for GDI1
- Search Origene for MassSpec and Protein Over-expression Lysates for GDI1
- Origene Custom Protein Services for GDI1
- ProSpec Recombinant Proteins for GDI1
- Search GeneTex for Proteins for GDI1
Assay Products
No data available for DME Specific Peptides for GDI1 Gene
Domains & Families for GDI1 Gene
Gene Families for GDI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for GDI1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for GDI1 Gene
- GenScript: Design optimal peptide antigens:
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 | TAS | 7849400 |
| GO:0005093 | Rab GDP-dissociation inhibitor activity | ISS,IEA | -- |
| GO:0005096 | GTPase activator activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11809807 |
| GO:0017137 | Rab GTPase binding | IEA | -- |
Phenotypes for GDI1 Gene
- MGI mutant phenotypes for GDI1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GDI1:
-
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GDI1
-
CRISPR Products
-
OriGene CRISPR knockouts for GDI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GDI1
- genomics-online: gRNA clones - Search results for available GDI1 gene related products
- Applied Biological Materials CRISPR for GDI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GDI1
- GenScript: Design CRISPR guide RNA sequences 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)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available GDI1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for GDI1
- Sino Biological Human cDNA Clone for GDI1
- VectorBuilder custom plasmid, inducible vectors for GDI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GDI1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GDI1
- genomics-online: cdna clones - Search results for available GDI1 gene related products
- orf clones - Search results for available GDI1 gene related products
- Applied Biological Materials Clones for GDI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030424 | axon | IEA | -- |
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
Interacting Proteins for GDI1 Gene
Selected Interacting proteins:
P31150-GDIA_HUMAN
ENSP00000394071
for GDI1 Gene via
IID
UniProtKB
MINT
STRING
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:0032482 | Rab protein signal transduction | ISS | -- |
| GO:0043547 | positive regulation of GTPase activity | IEA | -- |
No data available for SIGNOR curated interactions for GDI1 Gene
Transcripts for GDI1 Gene
mRNA/cDNA for GDI1 Gene
- (1) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (442) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000415109 560 bps (uc065cez.1)
- ENST00000434049 816 bps (uc065cey.1)
- ENST00000445564 568 bps (uc065cex.1)
- ENST00000447750 2474 bps (uc004fli.5)
- ENST00000460984 552 bps (uc065cfi.1)
Unigene Clusters for GDI1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GDI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GDI1
- genomics-online: gRNA clones - Search results for available GDI1 gene related products
- Applied Biological Materials CRISPR for GDI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GDI1
- GenScript: Design CRISPR guide RNA sequences for GDI1
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available GDI1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for GDI1
- Sino Biological Human cDNA Clone for GDI1
- VectorBuilder custom plasmid, inducible vectors for GDI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GDI1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GDI1
- genomics-online: cdna clones - Search results for available GDI1 gene related products
- orf clones - Search results for available GDI1 gene related products
- Applied Biological Materials Clones for GDI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of GDI1 Gene:
GDI1SOURCE 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)
- 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
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
-
OriGene qPCR primer pairs and template standards for GDI1
-
OriGene qPCR primer pairs for GDI1
- genomics-online: primer clones - Search results for available GDI1 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GDI1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GDI1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GDI1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GDI1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gdi1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gdi1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GDI1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GDI1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gdi1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gdi1 34 33 |
|
OneToOne | |
| wufc09e02 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Gdi 34 35 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010025 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | gdi-1 34 35 33 |
|
OneToMany | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR183C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDI1 34 33 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09185g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | GDI2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0418000 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.5495 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU05288 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gdi1 33 |
|
- 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
- ENSEMBL:
- Gene Tree for GDI1 (if available)
- TreeFam:
- Gene Tree for GDI1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GDI1: view image
Paralogs for GDI1 Gene
Variants for GDI1 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121434607 | pathogenic, X-Linked Mental Retardation 41, Mental retardation, X-linked 41 (MRX41) [MIM:300849] | 154,439,027(+) | T/C | coding_sequence_variant, missense_variant | |
| rs121434608 | pathogenic, X-Linked Mental Retardation 41 | 154,438,819(+) | C/T | coding_sequence_variant, stop_gained | |
| rs121434609 | pathogenic, X-Linked Mental Retardation 41, Mental retardation, X-linked 41 (MRX41) [MIM:300849] | 154,442,596(+) | G/C | coding_sequence_variant, missense_variant | |
| rs398122814 | pathogenic, X-Linked Mental Retardation 41 | 154,442,420(+) | GAGAG/GAG | coding_sequence_variant, frameshift | |
| rs878853275 | pathogenic, Immunodeficiency due to ficolin 3 deficiency | 154,435,762(+) | G/A/T | upstream_transcript_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDI1 Gene
Disorders for GDI1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| x-linked non-specific intellectual disability |
|
|
| tumor of exocrine pancreas |
|
|
| ficolin 3 deficiency |
|
|
| mohr-tranebjaerg syndrome |
|
|
| mental retardation, x-linked, syndromic 13 |
|
|
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.
Additional Disease Information for GDI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
- 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 58
- 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 58
- 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 58
- 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 58
Products for GDI1 Gene
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- OriGene Purified Proteins for GDI1
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- GenScript: Custom all cDNA clones Services for GDI1
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- CloneReady with Over 120,000 Genes
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- Sino Biological Human cDNA Clone for GDI1
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- ProSpec Recombinant Proteins for GDI1
- VectorBuilder custom plasmid, inducible vectors for GDI1
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for 83 available GDI1 Antibodies ranked by validation data
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- antibodies-online: Search results for 26 available GDI1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 13 available GDI1 Proteins ranked by validation data
- Compare Top GDI1 Proteins
- GeneTex GDI1 Antibody for GDI1
- Search GeneTex for Proteins for GDI1
- Santa Cruz Biotechnology (SCBT) Antibodies for GDI1
- Search Santa Cruz Biotechnology (SCBT) for GDI1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GDI1
- Horizon Cell Lines for GDI1
- genomics-online: cdna clones - Search results for available GDI1 gene related products
- orf clones - Search results for available GDI1 gene related products
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- genomics-online: primer clones - Search results for available GDI1 gene related products
- genomics-online: shRNA clones - Search results for available GDI1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GDI1
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- GeneCopoeia miRNA 3'UTR Target clone products for GDI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDI1
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