| Gene Symbol |
HPS1
|
| Entrez Gene |
3257
|
| Alt Symbol |
HPS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Hermansky-Pudlak syndrome 1
|
| Other Description |
Hermansky-Pudlak syndrome 1 protein
|
| Swissprots |
O15502 A8MRT2 O15402 Q8WXE5 Q5TAA3 Q92902
|
| Accessions |
AAB70662 AAL50684 EAW49877 EAW49878 EAW49879 EAW49880 EAW49881 EAW49882 EAW49883 Q92902 AK295821 BAG58638 AL702912 AL833734 CAH56230 BC000175 AAH00175 BC002514 BC127087 BC166631 AAI66631 BF447504 BI518436 BI966698 BQ100915 BX647296 HQ447845 ADQ32329 U65676 AAB17869 U96721 AAC52074 XM_005269755 XP_005269812 XM_005269756 XP_005269813 XM_005269757 XP_005269814 XM_005269758 XP_005269815 XM_005269759 XP_005269816 XM_005269760 XP_005269817 XM_005269761 XP_005269818 XM_006717818 XP_006717881 NM_000195 NP_000186 NM_182639 NP_872577 NM_182637 NM_182638
|
| Function |
Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.
|
| Tissue Specificity |
Ubiquitous.
|
