GDI1 - GDP dissociation inhibitor 1 Gene

Homo sapiens

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

Gene ID: 2664 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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