OSTM1

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq]

Full Name

osteopetrosis associated transmembrane protein 1

Function

Required for osteoclast and melanocyte maturation and function.

Biological Process

Osteoclast differentiationManual Assertion Based On ExperimentIBA:GO_Central
Transepithelial chloride transportManual Assertion Based On ExperimentIDA:ComplexPortal

Cellular Location

Lysosome membrane
Requires CLCN7 to travel to lysosomes.

Involvement in disease

Osteopetrosis, autosomal recessive 5 (OPTB5):
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.

Topology

Lumenal: 32-284
Helical: 285-305
Cytoplasmic: 306-334

PTM

Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.
Highly N-glycosylated.