OSTM1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

Quick Facts Identifiers, Aliases ...
OSTM1
Identifiers
AliasesOSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1, osteoclastogenesis associated transmembrane protein 1
External IDsOMIM: 607649; MGI: 2655574; HomoloGene: 32203; GeneCards: OSTM1; OMA:OSTM1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014028

NM_172416

RefSeq (protein)

NP_054747

NP_766004

Location (UCSC)Chr 6: 108.04 – 108.17 MbChr 10: 42.46 – 42.58 Mb
PubMed search[3][4]
Wikidata
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Quick Facts Osteopetrosis-associated transmembrane protein 1 precursor, Identifiers ...
Osteopetrosis-associated transmembrane protein 1 precursor
Identifiers
SymbolOSTMP1
PfamPF09777
InterProIPR019172
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary
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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]

References

Further reading

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