BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26258
Gene name Gene Name - the full gene name approved by the HGNC.
Biogenesis of lysosomal organelles complex 1 subunit 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLOC1S6
Synonyms (NCBI Gene) Gene synonyms aliases
BLOS6, HPS9, PA, PALLID, PLDN
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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. Alternati
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs201348482 C>T Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs574333116 G>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs772475341 C>G Likely-pathogenic Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1595560288 GA>AT Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(92)
miRTarBase ID miRNA Experiments Reference
MIRT002614 hsa-miR-124-3p Microarray 18668037
MIRT002614 hsa-miR-124-3p Microarray 15685193
MIRT023412 hsa-miR-30b-5p Sequencing 20371350
MIRT027360 hsa-miR-101-3p Sequencing 20371350
MIRT042100 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(77)
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0001726 Component Ruffle IEA
GO:0001822 Process Kidney development IEA
GO:0002936 Process Bradykinin biosynthetic process IEA
GO:0003016 Process Respiratory system process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604310 8549 ENSG00000104164
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UL45
Protein name Biogenesis of lysosome-related organelles complex 1 subunit 6 (BLOC-1 subunit 6) (Pallid protein homolog) (Pallidin) (Syntaxin 13-interacting protein)
Protein function 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 m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14712 Snapin_Pallidin 50 → 140 Snapin/Pallidin Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}.
Sequence 
MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHY
LPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRK
EMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM
Sequence length 172
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Golgi Associated Vesicle Biogenesis
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hermansky-Pudlak Syndrome hermansky-pudlak syndrome 9 rs201348482, rs1595560288, rs772475341 N/A
hermansky-pudlak syndrome Hermansky-Pudlak syndrome rs201348482 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 35488210, 39457042
Blood Platelet Disorders Associate 32245340
Hermanski Pudlak Syndrome Associate 21665000, 32245340, 34608437, 39187771
Platelet Storage Pool Deficiency Associate 32245340