| Gene Symbol |
OSTM1
|
| Entrez Gene |
28962
|
| Alt Symbol |
GIPN, GL, HSPC019, OPTB5
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
osteopetrosis associated transmembrane protein 1
|
| Other Description |
CLCN7 accessory beta subunit|GAIP-interacting protein N terminus|chloride channel 7 beta subunit|grey-lethal osteopetrosis|osteopetrosis-associated transmembrane protein 1
|
| Swissprots |
Q86WC4 Q8NC29 Q7RTW6 Q6PCA7 Q5R391 Q8TC82 Q9Y2S9 E1P5E3
|
| Accessions |
EAW48389 EAW48390 EAW48391 Q86WC4 AA428166 AF077205 AAD27000 AF533891 AAO72749 AJ420489 AJ420572 AK075012 BAC11351 AK129854 AK314393 AV715475 AY358795 AAQ89155 BC010845 BC016376 BC059412 BC068581 AAH68581 BE218267 BI668275 BK000461 DAA00039 BQ716123 XM_011535775 XP_011534077 XM_011535776 XP_011534078 XR_942410 NM_014028 NP_054747
|
| Function |
Required for osteoclast and melanocyte maturation and function. {ECO:0000250}.
|
| Subcellular Location |
Lysosome membrane {ECO:0000269|PubMed:21527911}; Single-pass type I membrane protein {ECO:0000269|PubMed:21527911}. Note=Requires CLCN7 to travel to lysosomes.
|