InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IQSEC2

Summary

InnateDB Protein

IDBP-69710.6

Last Modified

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

Gene Symbol

IQSEC2

Protein Name

IQ motif and Sec7 domain 2

Synonyms

BRAG1; MRX1;

Species

Homo sapiens

Ensembl Protein

ENSP00000364514

InnateDB Gene

IDBG-69706 (IQSEC2)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

Mental retardation, X-linked 1 (MRX1) [MIM:309530]: 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:20473311}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver. {ECO:0000269PubMed:9628581}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005086	ARF guanyl-nucleotide exchange factor activity
GO:0005515	protein binding

Biological Process

GO:0030036	actin cytoskeleton organization
GO:0032012	regulation of ARF protein signal transduction
GO:0043547	positive regulation of GTPase activity

Cellular Component

GO:0005634	nucleus
GO:0030054	cell junction

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR000904 Sec7 domain
IPR001849 Pleckstrin homology domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF01369
PF00169

PRINTS

PIRSF

SMART

SM00015
SM00222
SM00233

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q5JU85