BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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388552 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Biogenesis of lysosomal organelles complex 1 subunit 3 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BLOC1S3 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BLOS3, HPS8, RP |
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Chromosome
Chromosome number
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19 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.32 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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