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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hermansky-Pudlak syndrome 8 Pathogenic rs281865116, rs281865115, rs754841982, rs1568469902, rs1969482515 RCV000001554
RCV000496227
RCV001089653
RCV001257460
RCV001257461
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLOC1S3-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Albinism Albinism Pubtator 35488210 Associate
★☆☆☆☆
Found in Text Mining only
Albinism Albinism HPO_DG
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 21321396, 22381399
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 21460841
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29777097, 30617256
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Esotropia Esotropia HPO_DG
★☆☆☆☆
Found in Text Mining only
Exotropia Exotropia HPO_DG
★☆☆☆☆
Found in Text Mining only
Hermanski-Pudlak Syndrome Hermansky-Pudlak Syndrome BEFREE 16385460, 22709368
★★☆☆☆
Found in Text Mining + Unknown/Other Associations