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, Jul 2008]

Description

Osteoclastogenesis associated transmembrane protein 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

6 (108041409 - 108165854)

Ensembl ID

ENSG00000081087  (ver. 103.38)

Orthologs

Mouse Ostm1: ENSMUSG00000038280

UniProt

Q86WC4

neXtProt

NX_Q86WC4

Human splice variants
Mouse splice variants

Protein structure