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Tbio
BLOC1S6
Biogenesis of lysosome-related organelles complex 1 subunit 6

Protein Summary
Description
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000220531
  • ENSP00000220531
  • ENSG00000104164
  • ENST00000567523
  • ENSP00000456624

Symbol
  • PA
  • PLDN
  • PA
  • HPS9
  • PLDN
  • BLOS6
  • PALLID
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.88
transcription factor binding site profile
0.83
cellular component
0.82
histone modification site profile
0.81
microRNA
0.77


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 52.67   (req: < 5)
Gene RIFs: 5   (req: <= 3)
Antibodies: 173   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 52.67   (req: >= 5)
Gene RIFs: 5   (req: > 3)
Antibodies: 173   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
creatinine measurement
1
1
1
60.5
glomerular filtration rate
1
1
1
57.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
creatinine measurement
1
60.5
glomerular filtration rate
1
57.3
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
biogenesis of lysosomal organelles complex 1 subunit 6
VGNC:6599
100615120
Macaque
biogenesis of lysosomal organelles complex 1 subunit 6
713569
Mouse
MGI:1927580
18457
Rat
RGD:1310208
317630
Dog
biogenesis of lysosomal organelles complex 1 subunit 6
VGNC:38470
478288
Species
Name
OMA
EggNOG
Inparanoid
Chimp
biogenesis of lysosomal organelles complex 1 subunit 6
Macaque
biogenesis of lysosomal organelles complex 1 subunit 6
Mouse
Rat
Dog
biogenesis of lysosomal organelles complex 1 subunit 6
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9UL45-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (4)
Golgi Associated Vesicle Biogenesis (R-HSA-432722)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Golgi Associated Vesicle Biogenesis
Reactome
Membrane Trafficking
Reactome
Vesicle-mediated transport
Reactome
trans-Golgi Network Vesicle Budding
Name
Explore in Pharos
Explore in Source
Golgi Associated Vesicle Biogenesis
Membrane Trafficking
Vesicle-mediated transport
trans-Golgi Network Vesicle Budding
Protein-Protein Interactions (103)
1 – 10 of 103
BLOC1S4
Tdark
Novelty:  1.06874265
p_int:  0.999999996
p_ni:  4e-9
Score:  0.986
Data Source:  BioPlex,STRINGDB
BLOC1S3
Tbio
Novelty:  0.08465735
p_int:  0.999999994
p_ni:  6e-9
Score:  0.987
Data Source:  BioPlex,STRINGDB
BLOC1S5
Tbio
Novelty:  0.17565466
p_int:  0.999999993
p_ni:  7e-9
Score:  0.983
Data Source:  BioPlex,STRINGDB
BCAS4
Tbio
Novelty:  0.11759439
p_int:  0.999999626
p_ni:  6.4e-8
p_wrong:  3.11e-7
Score:  0.938
Data Source:  BioPlex,STRINGDB
AGGF1
Tbio
Novelty:  0.02757407
p_int:  0.9999971
p_ni:  0.000002899
p_wrong:  2e-9
Score:  0.265
Data Source:  BioPlex,STRINGDB
DTNBP1
Tbio
Novelty:  0.00341619
p_int:  0.999995945
p_ni:  1.75e-7
p_wrong:  0.000003881
Score:  0.993
Data Source:  BioPlex,STRINGDB
BLOC1S1
Tbio
Novelty:  0.02921036
p_int:  0.999995355
p_ni:  0.000004645
Score:  0.985
Data Source:  BioPlex,STRINGDB
NAV1
Tbio
Novelty:  0.00444608
p_int:  0.999991232
p_ni:  0.000008768
Data Source:  BioPlex
ABRAXAS1
Tbio
Novelty:  0.07078408
p_int:  0.999989083
p_ni:  0.000003011
p_wrong:  0.000007907
Data Source:  BioPlex
BORCS5
Tdark
Novelty:  0.59333419
p_int:  0.999959108
p_ni:  0.000040891
p_wrong:  1e-9
Score:  0.266
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  52.67

PubMed score by year
PubTator Score  11.85

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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