OSTM1
Sign in to saveAlso 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
- 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
Molecular function
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
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 sectionsContents
- 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.