Identity
HGNC
LOCATION
6q21
LOCUSID
ALIAS
GIPN,GL,HSPC019,OPTB5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 28962
MIM: 607649
HGNC: 21652
Ensembl: ENSG00000081087
Variants:
dbSNP: 28962
ClinVar: 28962
TCGA: ENSG00000081087
COSMIC: OSTM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000081087 | ENST00000193322 | Q86WC4 |
| ENSG00000081087 | ENST00000440575 | A0A0A0MSP4 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35902071 | 2022 | OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. | 2 |
| 35902071 | 2022 | OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. | 2 |
| 32188736 | 2020 | Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication. | 5 |
| 32749217 | 2020 | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | 32 |
| 32188736 | 2020 | Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication. | 5 |
| 32749217 | 2020 | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | 32 |
| 29297601 | 2018 | Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation. | 10 |
| 29297601 | 2018 | Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation. | 10 |
| 28612835 | 2017 | Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. | 5 |
| 28612835 | 2017 | Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. | 5 |
| 26598607 | 2016 | Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. | 11 |
| 26598607 | 2016 | Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. | 11 |
| 24719316 | 2014 | Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. | 14 |
| 24719316 | 2014 | Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. | 14 |
| 23685543 | 2013 | Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. | 11 |
Citation
Dessen P
OSTM1 (osteoclastogenesis associated transmembrane protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56205/ostm1-(osteoclastogenesis-associated-transmembrane-protein-1)
