InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SNX10

Summary

InnateDB Protein

IDBP-237638.6

Last Modified

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

Gene Symbol

SNX10

Protein Name

sorting nexin 10

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000379661

InnateDB Gene

IDBG-10202 (SNX10)

Protein Structure

UniProt Annotation

Function

Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption. {ECO:0000269PubMed:17012226, ECO:0000269PubMed:21844891, ECO:0000269PubMed:22499339}.

Subcellular Localization

Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=May also localize to nucleus and endoplasmic reticulum.

Disease Associations

Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired. {ECO:0000269PubMed:22499339, ECO:0000269PubMed:23123320, ECO:0000269PubMed:23280965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
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:0005545	1-phosphatidylinositol binding
GO:0035091	phosphatidylinositol binding
GO:0051117	ATPase binding

Biological Process

GO:0006886	intracellular protein transport
GO:0007032	endosome organization
GO:0030316	osteoclast differentiation
GO:0042384	cilium assembly
GO:0061512	protein localization to cilium
GO:0071539	protein localization to centrosome