InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARHGEF6

Summary

InnateDB Protein

IDBP-87676.6

Last Modified

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

Gene Symbol

ARHGEF6

Protein Name

Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6

Synonyms

alpha-PIX; alphaPIX; Cool-2; COOL2; MRX46; PIXA;

Species

Homo sapiens

Ensembl Protein

ENSP00000250617

InnateDB Gene

IDBG-87668 (ARHGEF6)

Protein Structure

UniProt Annotation

Function

Acts as a RAC1 guanine nucleotide exchange factor (GEF).

Subcellular Localization

Cell projection, lamellipodium {ECO:0000250}.

Disease Associations

Mental retardation, X-linked 46 (MRX46) [MIM:300436]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005096	GTPase activator activity
GO:0005515	protein binding

Biological Process

GO:0006915	apoptotic process
GO:0007254	JNK cascade
GO:0007264	small GTPase mediated signal transduction
GO:0030032	lamellipodium assembly
GO:0032321	positive regulation of Rho GTPase activity
GO:0034329	cell junction assembly
GO:0035023	regulation of Rho protein signal transduction
GO:0043065	positive regulation of apoptotic process
GO:0043547	positive regulation of GTPase activity
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0005622	intracellular
GO:0005829	cytosol
GO:0005911	cell-cell junction
GO:0030027	lamellipodium

Protein Structure and Domains

PDB ID

InterPro

IPR000219 Dbl homology (DH) domain
IPR001452 SH3 domain
IPR001715 Calponin homology domain
IPR001849 Pleckstrin homology domain
IPR003096 Smooth muscle protein/calponin
IPR011511 Variant SH3 domain
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain

PFAM