Gene Gene information from NCBI Gene database.
Entrez ID 388552
Gene name Biogenesis of lysosomal organelles complex 1 subunit 3
Gene symbol BLOC1S3
Synonyms (NCBI Gene)
BLOS3HPS8RP
Chromosome 19
Chromosome location 19q13.32
Summary This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutati
miRNA miRNA information provided by mirtarbase database.
751
miRTarBase ID miRNA Experiments Reference
MIRT043947 hsa-miR-378a-3p CLASH 23622248
MIRT682795 hsa-miR-548n HITS-CLIP 23706177
MIRT682794 hsa-miR-562 HITS-CLIP 23706177
MIRT682793 hsa-miR-6858-3p HITS-CLIP 23706177
MIRT682792 hsa-miR-4676-5p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IMP 16385460
GO:0005515 Function Protein binding IPI 15102850
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609762 20914 ENSG00000189114
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6QNY0
Protein name Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC-1 subunit 3)
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
PF15753 BLOC1S3 16 187 Biogenesis of lysosome-related organelles complex 1 subunit 3 Family
Sequence
Sequence length 202
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hermansky-Pudlak syndrome 8 Pathogenic rs281865116, rs281865115, rs754841982, rs1568469902, rs1969482515 RCV000001554
RCV000496227
RCV001089653
RCV001257460
RCV001257461
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BLOC1S3-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs201441961, rs749030472, rs572296006, rs148910210, rs201502372, rs1435023179, rs1487581109, rs368641537, rs1969477610, rs1280426153, rs756965386, rs200567085, rs768322585 RCV003965934
RCV003956354
RCV004731195
RCV003407580
RCV003930183
RCV003909182
RCV003896683
RCV003902196
RCV003951610
RCV003964329
RCV004750811
RCV003979885
RCV003970525
Hermansky-Pudlak syndrome Uncertain significance; Likely benign rs570559399, rs78979751, rs1599746194 RCV000292164
RCV000395591
RCV000851786
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 35488210
Hermanski Pudlak Syndrome Associate 16385460, 22709368, 34608437
Pigmentation Disorders Associate 16385460