BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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388552 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Biogenesis of lysosomal organelles complex 1 subunit 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BLOC1S3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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BLOS3, HPS8, RP |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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HPS8, RP |
Chromosome
Chromosome number
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19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.32 |
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 |
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 |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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