Homo sapiens Gene: OSTM1
Summary
InnateDB Gene IDBG-94986.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OSTM1
Gene Name osteopetrosis associated transmembrane protein 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000081087
Encoded Proteins
osteopetrosis associated transmembrane protein 1
osteopetrosis associated transmembrane protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 6:108041409-108165854
Strand Reverse strand
Band q21
Transcripts
ENST00000193322 ENSP00000193322
ENST00000440575 ENSP00000398556
ENST00000492130
ENST00000472669
ENST00000477774
ENST00000467960
ENST00000492070
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0030316 osteoclast differentiation
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.226780 Hs.706947 Hs.707593 Hs.741218
RefSeq NM_014028 XM_006715464
HUGO
OMIM
CCDS CCDS5062
HPRD 09628
IMGT
EMBL
GenPept
RNA Seq Atlas