Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388552
Gene name Gene Name - the full gene name approved by the HGNC.
Biogenesis of lysosomal organelles complex 1 subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLOC1S3
Synonyms (NCBI Gene) Gene synonyms aliases
BLOS3, HPS8, RP
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609762 20914 ENSG00000189114
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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 8 rs754841982, rs1568469902, rs281865116, rs281865115 N/A
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease, Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 35488210
Hermanski Pudlak Syndrome Associate 16385460, 22709368, 34608437
Pigmentation Disorders Associate 16385460