InnateDB Protein
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IDBP-147638.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Ostm1
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Protein Name
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osteopetrosis associated transmembrane protein 1
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Synonyms
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1200002H13Rik; gl; HSPC019;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000035516
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InnateDB Gene
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IDBG-147636 (Ostm1)
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Protein Structure
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Function |
Required for osteoclast and melanocyte maturation and function. {ECO:0000269PubMed:12627228, ECO:0000269PubMed:16525474}.
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Subcellular Localization |
Lysosome membrane {ECO:0000269PubMed:12627228, ECO:0000269PubMed:16525474}; Single-pass type I membrane protein {ECO:0000269PubMed:12627228, ECO:0000269PubMed:16525474}. Note=Requires CLCN7 to travel to lysosomes.
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Disease Associations |
Note=Defects in Ostm1 are the cause of the spontaneous gray-lethal (gl) mutant, which is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. {ECO:0000269PubMed:12627228}.
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Tissue Specificity |
Expressed primarily in osteoclasts and melanocytes as well as brain, kidney and spleen. Found at lower levels in the thymus, testis, heart and liver. {ECO:0000269PubMed:12627228}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2655574
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InterPro |
IPR019172
Osteopetrosis-associated transmembrane protein 1 precursor
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PFAM |
PF09777
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8BGT0
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PhosphoSite |
PhosphoSite-Q8BGT0
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TrEMBL |
D3Z4W7
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UniProt Splice Variant |
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Entrez Gene |
14628
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UniGene |
Mm.490681
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RefSeq |
NP_766004
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MGI ID |
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MGI Symbol |
Ostm1
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OMIM |
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CCDS |
CCDS23814
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HPRD |
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IMGT |
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EMBL |
AC121152
AC124998
AC166260
AF533890
AK004546
AK050513
BC057635
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GenPept |
AAH57635
AAO72748
BAC25087
BAC34300
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