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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 Vesicle-mediated transport 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 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

GeneHancer (GH) Regulatory Elements for GDI1 Gene

Promoters and enhancers for GDI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI154436 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.7 725 3.1 HDAC1 ATF1 RB1 ARID4B KLF17 SIN3A ZBTB40 YY1 ZNF335 GLIS2 GC0XP154437 GC0XP154438 GC0XP154439 GDI1 FAM50A PLXNA3 DNASE1L1 ATP6AP1 GC0XM154442
GH0XI154483 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.2 +48.9 48921 3.8 PKNOX1 ATF1 ARNT SIN3A ZBTB7B POLR2B ZNF766 GLIS2 FOS ATF7 UBL4A FAM3A FAM50A GDI1 ATP6AP1 CH17-340M24.3 GC0XM154482 SLC10A3
GH0XI153900 Enhancer 1.4 FANTOM5 Ensembl ENCODE 14.1 -534.4 -534408 4.2 HDGF GLI4 TCF12 ZNF766 GLIS2 GATA2 ZNF143 FOS REST ATF4 AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD LOC105373383 SLC10A3
GH0XI154595 Enhancer 0.8 Ensembl ENCODE 14.1 +159.7 159663 1.5 CTCF MAX CEBPB SALL2 FEZF1 EP300 RAD21 SP1 JUND POU5F1 LOC105373383 GDI1 GAB3 PDZD4 L1CAM FAM3A ENSG00000232155 CTAG1A
GH0XI154325 Enhancer 0.7 Ensembl ENCODE 11.7 -109.9 -109933 2 OSR2 E2F1 GATA3 SCRT2 ZNF600 ZBTB17 PLXNA3 ATP6AP1 CH17-340M24.3 GDI1 FAM50A DNASE1L1 PIR36226 GC0XP154343 GC0XP154344 TEX28
- 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:

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)

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

Post-translational modifications for GDI1 Gene

  • Ubiquitination at posLast=5454, isoforms=278, and posLast=435435

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

HGNC:
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

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.

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 IEA,ISS --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11809807
GO:0017137 Rab GTPase binding 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:

miRNA for GDI1 Gene

miRTarBase miRNAs that target GDI1

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

COMPARTMENTS
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:

CRISPR Products

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
GDI1
ECgene alternative splicing isoforms for
GDI1

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:

GDI1

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.

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
Organs:
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
genes like me logo Genes that share expression patterns with GDI1: view

Primer 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 33 34
  • 99.7 (n)
oppossum
(Monodelphis domestica)
Mammalia GDI1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDI1 33 34
  • 92.99 (n)
dog
(Canis familiaris)
Mammalia GDI1 33
  • 92.17 (n)
mouse
(Mus musculus)
Mammalia Gdi1 33 16 34
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Gdi1 33
  • 90.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GDI1 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDI1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdi1 33
  • 80.61 (n)
zebrafish
(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)
worm
(Caenorhabditis elegans)
Secernentea gdi-1 33 34 35
  • 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)
rice
(Oryza sativa)
Liliopsida Os05g0418000 33
  • 58.88 (n)
corn
(Zea mays)
Liliopsida Zm.5495 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
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

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 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

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
esv3575039 CNV loss 25503493
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)

Additional Variant Information for GDI1 Gene

Human Gene Mutation Database (HGMD)
GDI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: 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
  • mts
mental retardation, x-linked, syndromic 13
  • mrxs13
lubs x-linked mental retardation syndrome
  • mrxsl
- 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.

Additional Disease Information for GDI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 58
  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 58
  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 58
  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 58

Products for GDI1 Gene

Sources for GDI1 Gene

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