| Type | Description |
|---|---|
| Definition | biogenesis of lysosomal organelles complex 1 subunit 6 |
| Date | Results | Publications |
|---|---|---|
| 2018-07-23 13:16:00 | Results from a study on gene expression variability markers in early-stage human embryos shows that BLOC1S6 (PLDN) is a putative expression variability marker for the 3-day, 8-cell embryo stage. | 26288249 |
| 2018-02-03 10:48:00 | PLDN is a direct target of RUNX1 and its dysregulation is a mechanism for platelet dense granule deficiency associated with RUNX1 haplodeficiency | 28075530 |
| 2014-10-04 12:08:00 | Mecp2 regulates the expression of components belonging to the dysbindin interactome | 23750231 |
| 2010-01-21 00:00:00 | no defects in the known components of pallidin-muted complex (BLOC-1)have been identified in 142 patients with HPS, suggesting that BLOC-1 function may be critical in humans. | 12576321 |
| 2010-01-21 00:00:00 | role in biogenesis of lysosome-related organelles | 12191018 |
| Type | IDs |
|---|---|
| Synonymous | BLOS6, HPS9, PA, PALLID, PLDN |
| Gene |
UniProtKB-ID:
BL1S6_HUMAN,
B3KY40_HUMAN,
H3BST1_HUMAN
UniprotKB:
Q9UL45,
B3KY40,
H3BST1
UniParc:
UPI000004A0B2,
UPI0000E59C24,
UPI000015D56E,
UPI00004088D4
EMBL:
AF080470,
BC004819,
AK128626,
AC090527,
AK057545
Ensembl:
ENSG00000104164
KO:
hsa:26258
|
| Nucleutide sequences |
EMBL-CDS:
AAF08343.1,
AAH04819.1,
BAG54702.1
Ensembl_TRS:
ENST00000567523,
ENST00000220531,
ENST00000565323
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000220531,
ENSP00000456624,
ENSP00000456851
RefSeq:
NP_001298184.1,
NP_001298185.1,
NP_036520.1
|
| Others |
UniRef100:
UniRef100_Q9UL45,
UniRef100_B3KY40,
UniRef100_H3BST1
UniRef90:
UniRef90_G1R1Q6,
UniRef90_B3KY40,
UniRef90_Q9UL45
UniRef50:
UniRef50_H3BN13,
UniRef50_F6ZSG2,
UniRef50_Q9UL45
UniGene:
Hs.7037
CCDS:
CCDS10126.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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