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.

In the Vinony graph

Within Vinony's link graph, OSTM1 is referenced by 6 other articles, and connects out to PubMed, human chromosome 6 and Ensembl genome database project.

It is catalogued under topics including Genes on human chromosome 6, Protein families and Protein pages needing a picture.

Its subject is documented across 5 Wikipedia language editions.

Gene data

OSTM1

Name: osteoclastogenesis associated transmembrane protein 1
Type: protein-coding
Position: 108,029,245–108,165,854 (−)
Aliases: GIPN, GL, HSPC019, OPTB5
Ensembl: ENSG00000081087
RefSeq RNA: NM_014028.4, XM_047418679.1, XM_047418680.1, XM_054355240.1, XM_054355241.1
RefSeq protein: NP_054747.2, XP_047274635.1, XP_047274636.1, XP_054211215.1, XP_054211216.1

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].

Gene Ontology

Biological process

osteoclast differentiation transepithelial chloride transport

Molecular function

protein binding

Cellular component

lysosomal membrane lysosomal membrane lysosomal membrane cytosol cytosol chloride channel complex

Pathways

Stimuli-sensing channels Transport of small molecules Ion channel transport Autosomal recessive Osteopetrosis pathways

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

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 32203
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/28962
genomic end: 108487058
genomic start: 108362613
chromosome: human chromosome 6
cytogenetic location: 6q21
expressed in: right coronary artery

Sources (4)

via Wikidata · CC0

~1 min read

Encyclopedic overview

4 sections

Contents

Function
Interactions
References
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 ==

Excerpted from Wikipedia’s “OSTM1” article, available under the CC BY-SA 4.0 licence.