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GDI1 GDP dissociation inhibitor 1 [ Homo sapiens (human) ]

Gene ID: 2664, updated on 3-Nov-2024

Summary

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Official Symbol
GDI1provided by HGNC
Official Full Name
GDP dissociation inhibitor 1provided by HGNC
Primary source
HGNC:HGNC:4226
See related
Ensembl:ENSG00000203879 MIM:300104; AllianceGenome:HGNC:4226
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
1A; GDIL; MRX41; MRX48; OPHN2; XAP-4; XLID41; RABGD1A; RABGDIA
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 222.9), adrenal (RPKM 45.3) and 22 other tissues See more
Orthologs
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Genomic context

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See GDI1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154437154..154443467)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152673662..152679975)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153665500..153671814)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATP6AP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153656739-153657240 Neighboring gene ATPase H+ transporting accessory protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153665032-153665532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153666887-153667386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153672115-153672682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153673251-153673818 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153687524-153688076 Neighboring gene plexin A3 Neighboring gene Sharpr-MPRA regulatory region 3405 Neighboring gene L antigen family member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GDP dissociation inhibitor 1 (GDI1) attenuates beta-amyloid-induced neurotoxicity in Alzheimer's diseases.
    Title: GDP dissociation inhibitor 1 (GDI1) attenuates β-amyloid-induced neurotoxicity in Alzheimer's diseases.
  2. Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.
    Title: Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.
  3. The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.
    Title: The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.
  4. Data confirm isolated adrenocorticotropin deficiency (IAD) as autoimmune disease; RABGDIA (human, human recombinant, or rat) exhibits characteristics of autoantigen in anterior pituitary; patients with IAD exhibit autoantibodies against RABGDIA.
    Title: Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency.
  5. Human oligodendrogliomas cells stably expressing mutant GDI1 showed altered cell proliferation.
    Title: Tumor-specific mutations in low-frequency genes affect their functional properties.
  6. The results of this study identified RabGDI as a component of the switching mechanism that is required for commissural axons to change their response from attraction to repulsion at the intermediate target
    Title: RabGDI controls axonal midline crossing by regulating Robo1 surface expression.
  7. GDI1 mutations cause an unspecific phenotype characterized by cognitive deficits of variable degree in males, and to a lesser degree in female carriers.
    Title: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
  8. The mutations in this gene are common and do not seem to influence the gene expression so as to cause a change in phenotype.
    Title: Mutations in GDI1 and X-linked non-specific mental retardation.
  9. A model by which mutant PrP induces overexpression of GDI, activating a cytotoxic feedback loop that leads to protein accumulation in the secretory pathway.
    Title: Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway.
  10. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
    Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, X-linked 41
MedGen: C3887939 OMIM: 300849 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-06-22)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2022-06-22)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41411

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-dissociation inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables Rab GDP-dissociation inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Rab GDP-dissociation inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Rab protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of axon extension IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in response to calcium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
 PubMed 
located_in myelin sheath IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic cytosol IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rab GDP dissociation inhibitor alpha
Names
GDI-1
guanosine diphosphate dissociation inhibitor 1
oligophrenin-2
protein XAP-4
rab GDI alpha
rab GDP-dissociation inhibitor, alpha
testis secretory sperm-binding protein Li 208a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008954.2 RefSeqGene

    Range
    5002..11315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001493.3 → NP_001484.1  rab GDP dissociation inhibitor alpha

    See identical proteins and their annotated locations for NP_001484.1

    Status: REVIEWED

    Source sequence(s)
    BC000317, DA133083
    Consensus CDS
    CCDS35452.1
    UniProtKB/Swiss-Prot
    P31150, P50394, Q6FG50, Q7Z2G6, Q7Z2G9, Q7Z2H5, Q7Z2I6
    UniProtKB/TrEMBL
    A0A0S2Z3X8, B4DHX4, E7EX02
    Related
    ENSP00000394071.2, ENST00000447750.7
    Conserved Domains (1) summary
    pfam00996
    Location:1 → 436
    GDI; GDP dissociation inhibitor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154437154..154443467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152673662..152679975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31150.2 GenPept UniProtKB/Swiss-Prot:P31150

Gene LinkOut

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