| Gene Symbol |
HPS5
|
| Entrez Gene |
11234
|
| Alt Symbol |
AIBP63
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Hermansky-Pudlak syndrome 5
|
| Other Description |
Hermansky-Pudlak syndrome 5 protein|alpha integrin binding protein 63|alpha-integrin-binding protein 63|ruby-eye protein 2 homolog
|
| Swissprots |
D3DQY0 Q8N4U0 O95942 A8K8S1 A8K6J8 Q9UPZ3 D3DQX9
|
| Accessions |
EAW68402 EAW68403 EAW68404 EAW68405 EAW68406 EAW68407 Q9UPZ3 AA886415 AB023234 BAA76861 AF534400 AAO25962 AF534401 AAO25963 AF534402 AAO25964 AJ131721 CAB38232 AK024320 BAG51290 AK291663 BAF84352 AK292436 BAF85125 BC033640 AAH33640 XM_011519862 XP_011518164 XM_011519863 XP_011518165 XM_011519864 XP_011518166 XM_011519865 XP_011518167 XM_011519866 XP_011518168 XM_011519867 XP_011518169 XM_011519868 XP_011518170 XM_011519869 XP_011518171 XM_011519870 XP_011518172 XM_011519871 XP_011518173 NM_007216 NP_009147 NM_181507 NP_852608 NM_181508 NP_852609
|
| Function |
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. {ECO:0000269|PubMed:15296495, ECO:0000269|PubMed:17301833}.
|
| Subcellular Location |
Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}.
|
| Tissue Specificity |
Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus. {ECO:0000269|PubMed:15296495}.
|
