InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDI1

Summary

InnateDB Protein

IDBP-383680.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDI1

Protein Name

GDP dissociation inhibitor 1

Synonyms

1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A; RABGDIA; XAP-4;

Species

Homo sapiens

Ensembl Protein

ENSP00000394071

InnateDB Gene

IDBG-91478 (GDI1)

Protein Structure

UniProt Annotation

Function

Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes. {ECO:0000269PubMed:23815289}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19570034}. Golgi apparatus, trans-Golgi network {ECO:0000269PubMed:19570034}.

Disease Associations

Mental retardation, X-linked 41 (MRX41) [MIM:300849]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269PubMed:9620768, ECO:0000269PubMed:9668174}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain; predominant in neural and sensory tissues. {ECO:0000269PubMed:7543319}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	37 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005092	GDP-dissociation inhibitor activity
GO:0005093	Rab GDP-dissociation inhibitor activity
GO:0005096	GTPase activator activity
GO:0005515	protein binding
GO:0017137	Rab GTPase binding

Biological Process

GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0015031	protein transport
GO:0032482	Rab protein signal transduction
GO:0043547	positive regulation of GTPase activity
GO:0050771	negative regulation of axonogenesis
GO:0050790	regulation of catalytic activity
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051592	response to calcium ion
GO:0090315	negative regulation of protein targeting to membrane