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

Gene ID: 2664, updated on 6-May-2021

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
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Genomic context

See GDI1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154437154..154443467)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153665500..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 Neighboring gene L antigen family member 3

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
X-Linked Mental Retardation 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 2018-09-26)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Pathways from PubChem

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
enables GDP-dissociation inhibitor activity TAS
Traceable Author Statement
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
PubMed 
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 protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity 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
PubMed 
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
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
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
 
part_of 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)

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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_008954.1 RefSeqGene

    Range
    5242..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, ENST00000447750.7
    Conserved Domains (1) summary
    pfam00996
    Location:1436
    GDI; GDP dissociation inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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