ENSG00000081087


Homo sapiens

Features
Gene ID: ENSG00000081087
  
Biological name :OSTM1
  
Synonyms : osteopetrosis associated transmembrane protein 1 / OSTM1 / Q86WC4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q21
Gene start: 108041409
Gene end: 108165854
  
Corresponding Affymetrix probe sets: 218196_at (Human Genome U133 Plus 2.0 Array)   235197_s_at (Human Genome U133 Plus 2.0 Array)   235198_at (Human Genome U133 Plus 2.0 Array)   243287_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000193322
Ensembl peptide - ENSP00000398556
NCBI entrez gene - 28962     See in Manteia.
OMIM - 607649
RefSeq - NM_014028
RefSeq Peptide - NP_054747
swissprot - A0A0A0MSP4
swissprot - Q86WC4
Ensembl - ENSG00000081087
  
Related genetic diseases (OMIM): 259720 - Osteopetrosis, autosomal recessive 5, 259720
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ostm1ENSDARG00000069808Danio rerio
 OSTM1ENSGALG00000015306Gallus gallus
 Ostm1ENSMUSG00000038280Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019172  Osteopetrosis-associated transmembrane protein 1 precursor
 IPR027267  AH/BAR domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030316 osteoclast differentiation IEA
 biological_processGO:0034220 ion transmembrane transport TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000238 Hydrocephalus 
Show

 HP:0001939 Metabolism abnormality 
Show

 HP:0003826 Stillborn or neonatal death 
Show

 HP:0011002 Osteopetrosis 
Show

 HP:0030328 Decreased osteoclast count "Decreased number of osteoclasts." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000103249 CLCN7 / P51798 / chloride voltage-gated channel 7  / complex






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr