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

Gene ID: 2664, updated on 9-Dec-2018

Summary

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
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; 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

Genomic context

See GDI1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154436913..154443467)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153665259..153671814)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized protein BC009467 Neighboring gene ATPase H+ transporting accessory protein 1 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858 Neighboring gene plexin A3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
X-Linked Mental Retardation 41
MedGen: C3887939 OMIM: 300849 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-09-26)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-09-26)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
    Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem
    Signaling mediated by p38-alpha and p38-beta
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41411

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
rab GDP dissociation inhibitor alpha
Names
GDI-1
guanosine diphosphate dissociation inhibitor 1
mental retardation, X-linked 48
oligophrenin-2
protein XAP-4
rab GDI alpha
rab GDP-dissociation inhibitor, alpha
testis secretory sperm-binding protein Li 208a

NCBI Reference Sequences (RefSeq)

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_008954.1 RefSeqGene

    Range
    5001..11556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001493.3NP_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
    UniProtKB/TrEMBL
    A0A0S2Z3X8
    Related
    ENSP00000394071.2, ENST00000447750.6
    Conserved Domains (1) summary
    pfam00996
    Location:1436
    GDI; GDP dissociation inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154436913..154443467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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