InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SNX3

Summary

InnateDB Protein

IDBP-95004.7

Last Modified

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

Gene Symbol

SNX3

Protein Name

sorting nexin 3

Synonyms

Grd19; MCOPS8; SDP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000357975

InnateDB Gene

IDBG-94996 (SNX3)

Protein Structure

UniProt Annotation

Function

Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. {ECO:0000250, ECO:0000269PubMed:11433298, ECO:0000269PubMed:18767904}.

Subcellular Localization

Early endosome {ECO:0000269PubMed:11433298}.

Disease Associations

Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:12471201}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12).

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.

Experimentally validated
Total	38 [view]
Protein-Protein	32 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019903	protein phosphatase binding
GO:0032266	phosphatidylinositol-3-phosphate binding
GO:0035091	phosphatidylinositol binding

Biological Process

GO:0006886	intracellular protein transport
GO:0006897	endocytosis
GO:0042541	hemoglobin biosynthetic process

Cellular Component

GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005829	cytosol
GO:0010008	endosome membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome