OSTM1

Also known as GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1, osteoclastogenesis associated transmembrane protein 1

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

Gene data

OSTM1

Name: osteoclastogenesis associated transmembrane protein 1
Type: protein-coding
Aliases: GIPN, GL, HSPC019, OPTB5

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].

via MyGene.info

Gene · Ensembl

osteoclastogenesis associated transmembrane protein 1

Symbol: OSTM1
Biotype: Protein coding
Organism: Homo sapiens
Location: 6:108,029,245-108,165,854
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 32203
exact match: identifiers.org/ncbigene/28962
genomic end: 108487058
genomic start: 108362613
cytogenetic location: 6q21

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Function
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Further reading

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

== Function ==