Entrez Summary: 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].
UniProt Summary: Required for osteoclast and melanocyte maturation and function. {ECO:0000250, ECO:0000269|PubMed:21527911}.
Pfam DomainsGO Terms
Pfam Domains
OSTMP1
GO Terms
osteoclast differentiation
myeloid leukocyte differentiation
myeloid cell differentiation
lysosomal membrane
leukocyte differentiation
hemopoiesis
hematopoietic or lymphoid organ development
immune system development
ion transmembrane transport
transmembrane transport
ion transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)