InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OSTM1

Summary

InnateDB Protein

IDBP-94988.6

Last Modified

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

Gene Symbol

OSTM1

Protein Name

osteopetrosis associated transmembrane protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000193322

InnateDB Gene

IDBG-94986 (OSTM1)

Protein Structure

UniProt Annotation

Function

Required for osteoclast and melanocyte maturation and function. {ECO:0000250}.

Subcellular Localization

Lysosome membrane {ECO:0000269PubMed:21527911}; Single-pass type I membrane protein {ECO:0000269PubMed:21527911}. Note=Requires CLCN7 to travel to lysosomes.

Disease Associations

Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: 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. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. {ECO:0000269PubMed:12627228, ECO:0000269PubMed:16813530}. 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 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [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:0005515	protein binding

Biological Process

GO:0030316	osteoclast differentiation
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005829	cytosol
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle