| Type | Description |
|---|---|
| Definition | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-26 13:02:00 | Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3. | 31621111 |
| 2017-11-18 11:13:00 | HPS3 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. | 27593200 |
| 2010-09-15 22:06:00 | Observational study of genotype prevalence. (HuGE Navigator) | 20562649 |
| 2010-01-21 00:00:00 | Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) | 12125811 |
| 2010-01-21 00:00:00 | HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3) | 12847290 |
| Type | IDs |
|---|---|
| Synonymous | BLOC2S1, SUTAL |
| Gene |
UniProtKB-ID:
HPS3_HUMAN,
G5E9V4_HUMAN
UniprotKB:
Q969F9,
G5E9V4
UniParc:
UPI0000EE2264,
UPI000002AB54,
UPI000000D989
EMBL:
BC040359,
BC016901,
AK026357,
AK056575,
AY033141,
BC022062,
AC021059,
AF375663,
AC131209,
AK291631,
CH471052
Ensembl:
ENSG00000163755
KO:
hsa:84343
|
| Nucleutide sequences |
EMBL-CDS:
EAW78886.1,
AAH40359.1,
AAH22062.2,
AAH16901.1,
AAK84131.1,
AAK53457.1,
BAB71221.1,
BAF84320.1,
BAB15459.1,
EAW78887.1
Gene_ORFName:
hCG_1787015
Ensembl_TRS:
ENST00000296051,
ENST00000460120
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000296051,
ENSP00000418230
RefSeq:
NP_115759.2,
NP_001295187.1,
XP_005247891.1,
XP_016862812.1
|
| Others |
UniRef100:
UniRef100_G5E9V4,
UniRef100_Q969F9
UniRef90:
UniRef90_G5E9V4,
UniRef90_Q969F9
UniRef50:
UniRef50_Q969F9
UniGene:
Hs.558314,
Hs.591311
CCDS:
CCDS3140.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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