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GDI1 - GDP dissociation inhibitor 1 Gene

Also Known as 1A; GDIL; MRX41; MRX48; OPHN2; XAP-4; XLID41; RABGD1A; RABGDIA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2664

About GDI1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,437,154-154,443,467 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 222.9), adrenal (RPKM 45.3) and 22 other tissues.

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]

GDI1 Products (1)

mRNA	Protein	Name
NM_001493.3	NP_001484.1	rab GDP dissociation inhibitor alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GDP-dissociation inhibitor activity	IDA IDA: Inferred from direct assay	35343654	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11809807	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of protein targeting to membrane	IMP IMP: Inferred from mutant phenotype	23815289	GOA
involved in positive regulation of toll-like receptor signaling pathway	IDA IDA: Inferred from direct assay	35343654	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	35343654	GOA
located in midbody	IDA IDA: Inferred from direct assay	15166316	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDI1 Protein Structure

GDI

0
100
200
300
400
447 a.a.

Protein Preferred Names	Protein Names
rab GDP dissociation inhibitor alpha	GDI-1

GDI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GDI1	P31150	USP25	Homo sapiens	Q9UHP3	Anti Tag CoIP	33961781
Intra	GDI1	P31150	USP25	Homo sapiens	Q9UHP3	Anti Tag CoIP	28514442
Intra	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	33961781
Intra	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	26496610
Intra	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	35271311
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	28514442
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	35271311
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	FRET	19570034
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	26496610
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	33961781
Intra	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	19570034
Intra	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25910212
Intra	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Bait-Prey Pool	25910212
Intra	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25910212
Intra	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
Cross	GDI1	P31150	Rab10	Mus musculus	P61027	FRET	19570034

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 41	XLID41 Mrx41 Mental Retardation, X-Linked 48 Mrx48
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 41	Mrx41 Mrx48 X-Linked Mental Retardation 48
Non-Syndromic X-Linked Intellectual Disability 106	Mrx106 X-Linked Mental Retardation 106
Non-Syndromic X-Linked Intellectual Disability 72	Mrx72
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
Martsolf Syndrome 1	Martsolf Syndrome Cataract-Intellectual Disability-Hypogonadism Syndrome MARTS1 Marts Cataract-Mental Retardation-Hypogonadism Martsolf
Gene Duplication Disease	Gene Duplication Syndrome
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05359	GDI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GDI1	RGD	RGD:2676
Felis catus	GDI1	VGNC	VGNC:62506
Macaca mulatta	GDI1	VGNC	VGNC:72910
Mus musculus	GDI1	MGD	MGI:99846
Bos taurus	GDI1	VGNC	VGNC:29307
Others	GDI1	NCBI