| Type | Description |
|---|---|
| Definition | biogenesis of lysosomal organelles complex 1 subunit 3 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-20 13:00:00 | BLOC-2 and BLOC-3 were destabilized due to the mutation of these Hermansky-Pudlak syndrome (HPS) genes which are so far the only reported causative genes in Chinese HPS patients | 30387913 |
| 2010-06-30 22:05:00 | Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) | 20460622 |
| 2010-01-21 00:00:00 | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). | 16385460 |
| Type | IDs |
|---|---|
| Synonymous | BLOS3, HPS8, RP |
| Gene |
UniProtKB-ID:
BL1S3_HUMAN
UniprotKB:
Q6QNY0
UniParc:
UPI0000202628
EMBL:
AK296695,
BC151152,
AY531266,
BC151151
Ensembl:
ENSG00000189114
KO:
hsa:388552
|
| Nucleutide sequences |
EMBL-CDS:
AAT00462.1,
AAI51153.1,
AAI51152.1,
BAG59289.1
Ensembl_TRS:
ENST00000587722,
ENST00000433642
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000468281,
ENSP00000393840
RefSeq:
NP_997715.1
|
| Others |
UniRef100:
UniRef100_Q6QNY0
UniRef90:
UniRef90_Q6QNY0
UniRef50:
UniRef50_Q5U5M8
UniGene:
Hs.103902
CCDS:
CCDS12656.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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