| Type | Description |
|---|---|
| Definition | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
| Date | Results | Publications |
|---|---|---|
| 2018-08-11 12:01:00 | This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS. | 29090612 |
| 2017-11-18 11:13:00 | HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. | 27593200 |
| 2013-12-21 11:17:00 | We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. | 23607980 |
| 2012-01-14 11:59:00 | Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. | 21833017 |
| 2010-01-21 00:00:00 | Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. | 15030569 |
| Type | IDs |
|---|---|
| Synonymous | AIBP63, BLOC2S2 |
| Gene |
UniProtKB-ID:
HPS5_HUMAN
UniprotKB:
Q9UPZ3
UniParc:
UPI000000D7E9,
UPI000000D7EA
EMBL:
AF534400,
BC033640,
AF534402,
AJ131721,
CH471064,
AK291663,
AF534401,
AK292436,
AB023234
Ensembl:
ENSG00000288445,
ENSG00000110756
KO:
hsa:11234
|
| Nucleutide sequences |
EMBL-CDS:
BAF85125.1,
AAH33640.1,
EAW68407.1,
EAW68404.1,
AAO25962.1,
AAO25964.1,
EAW68406.1,
CAB38232.1,
BAA76861.2,
BAF84352.1,
EAW68405.1,
AAO25963.1,
EAW68402.1
Ensembl_TRS:
ENST00000672413,
ENST00000438420,
ENST00000349215,
ENST00000396253,
ENST00000671838,
ENST00000672334
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399590,
ENSP00000379552,
ENSP00000500370,
ENSP00000500042,
ENSP00000499956,
ENSP00000265967
RefSeq:
XP_011518167.1,
XP_011518168.1,
NP_852609.1,
NP_852608.1,
XP_016872638.1,
XP_016872640.1,
XP_011518166.1,
XP_011518169.1,
NP_009147.3,
XP_011518170.1,
XP_016872641.1,
XP_016872643.1,
XP_016872639.1,
XP_016872642.1,
XP_011518165.1,
XP_011518164.1
|
| Others |
UniRef100:
UniRef100_Q9UPZ3
UniRef90:
UniRef90_Q9UPZ3
UniRef50:
UniRef50_Q9UPZ3
UniGene:
Hs.437599
CCDS:
CCDS7836.1,
CCDS7837.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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