OSTM1

Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.^[5][6][7] It is required for osteoclast and melanocyte maturation and function.^[5]

OSTM1
Identifiers
Aliases	OSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1, osteoclastogenesis associated transmembrane protein 1
External IDs	OMIM: 607649; MGI: 2655574; HomoloGene: 32203; GeneCards: OSTM1; OMA:OSTM1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q21 Start 108,041,409 bp[1] End 108,165,854 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B2|10 22.89 cM Start 42,459,818 bp[2] End 42,578,455 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus popliteal artery tibial arteries stromal cell of endometrium monocyte left coronary artery epithelium of colon ascending aorta islet of Langerhans right coronary artery Top expressed in retinal pigment epithelium stroma of bone marrow iris facial motor nucleus substantia nigra ciliary body superior cervical ganglion interventricular septum Region I of hippocampus proper blood More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 28962 14628 Ensembl ENSG00000081087 ENSMUSG00000038280 UniProt Q86WC4 Q8BGT0 RefSeq (mRNA) NM_014028 NM_172416 RefSeq (protein) NP_054747 NP_766004 Location (UCSC) Chr 6: 108.04 – 108.17 Mb Chr 10: 42.46 – 42.58 Mb PubMed search [3] [4]
Wikidata
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Osteopetrosis-associated transmembrane protein 1 precursor
Identifiers
Symbol	OSTMP1
Pfam	PF09777
InterPro	IPR019172
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Function

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.^[7] This is also known as autosomal recessive Albers-Schonberg disease.^[5][8]

The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.^[9][10]

Interactions

OSTM1 has been shown to interact with RGS19.^[11]