BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 388552 |
| Gene name | Biogenesis of lysosomal organelles complex 1 subunit 3 |
| Gene symbol | BLOC1S3 |
| Synonyms (NCBI Gene) |
BLOS3HPS8RP
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
751
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 202 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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