| Type | Description |
|---|---|
| Definition | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 |
| Date | Results | Publications |
|---|---|---|
| 2015-07-20 14:48:00 | BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. | 23084991 |
| 2015-01-10 14:17:00 | These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia. | 24168225 |
| 2014-04-26 11:25:00 | These results suggest that the HPS4 gene confers a susceptibility to schizophrenia. | 23563589 |
| 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 |
| 2010-05-03 12:14:00 | Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles. | 20048159 |
| Type | IDs |
|---|---|
| Synonymous | BLOC3S2, LE |
| Gene |
UniProtKB-ID:
HPS4_HUMAN,
Q6P1K3_HUMAN,
A8K2E6_HUMAN
UniprotKB:
Q9NQG7,
Q6P1K3,
A8K2E6
UniParc:
UPI000002AB55,
UPI000012CB6F,
UPI0000EE5987,
UPI0000232A52,
UPI00001605E5,
UPI0000680AD9
EMBL:
Z99714,
AL713795,
BC065030,
AL365512,
AK057648,
BC035614,
AB051454,
AY043416,
AK290211,
CH471095
Ensembl:
ENSG00000100099
KO:
hsa:89781
|
| Nucleutide sequences |
EMBL-CDS:
CAQ09361.1,
CAI17880.1,
AAK95330.1,
CAB97208.1,
BAB71540.1,
CAD28549.1,
BAB33337.1,
AAH65030.1,
EAW59720.1,
EAW59718.1,
BAF82900.1
Gene_ORFName:
hCG_41138
Ensembl_TRS:
ENST00000398145,
ENST00000336873,
ENST00000402105
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000381213,
ENSP00000338457,
ENSP00000384185
RefSeq:
NP_001336829.1,
NP_001336831.1,
NP_690054.1,
XP_011528794.1,
NP_001336827.1,
NP_001336825.1,
XP_011528791.1,
XP_011528789.1,
XP_024308067.1,
NP_001336833.1,
XP_016884551.1,
NP_001336828.1,
XP_016884535.1,
XP_016884553.1,
XP_011528796.1,
XP_016884534.1,
XP_016884542.1,
XP_006724423.1,
XP_016884552.1,
XP_011528793.1,
NP_001336834.1,
NP_001336832.1,
XP_024308066.1,
NP_001336830.1,
XP_011528788.1,
XP_016884550.1,
XP_011528795.1,
XP_011528790.1,
NP_071364.4,
XP_011528792.1,
XP_011528798.1,
XP_011528787.1,
XP_016884541.1,
XP_016884536.1,
XP_011528797.1,
XP_024308068.1,
XP_016884545.1
|
| Others |
UniRef100:
UniRef100_A8K2E6,
UniRef100_Q6P1K3,
UniRef100_Q9NQG7
UniRef90:
UniRef90_Q9NQG7
UniRef50:
UniRef50_Q9NQG7
UniGene:
Hs.474436
CCDS:
CCDS46677.1,
CCDS13835.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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