Gene Symbol |
HPS3
|
Entrez Gene |
84343
|
Alt Symbol |
SUTAL
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
Hermansky-Pudlak syndrome 3
|
Other Description |
Hermansky-Pudlak syndrome 3 protein
|
Swissprots |
Q969F9 Q96AP1 Q8WTV6 Q96MR3 A8K6G6 Q9H608
|
Accessions |
AAK84131 CCQ43762 EAW78885 EAW78886 EAW78887 EAW78888 Q969F9 AK026357 BAB15459 AK055245 AK056575 BAB71221 AK291631 BAF84320 AK298478 BAG60689 AL832735 AL833878 CAD38735 AY033141 AAK53457 BC016901 AAH16901 BC022062 AAH22062 BC040359 AAH40359 BG618578 CB241738 DQ891178 ABM82104 DQ894360 ABM85286 XM_005247834 XP_005247891 XM_006713788 XP_006713851 XM_011513236 XP_011511538 XR_924201 NM_001308258 NP_001295187 NM_032383 NP_115759
|
Function |
Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250}.
|
Subcellular Location |
Cytoplasm {ECO:0000250}.
|
Tissue Specificity |
Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
|