BLOC1S1
Sign in to saveAlso known as BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.
Gene data
BLOC1S1- Name
- biogenesis of lysosomal organelles complex 1 subunit 1
- Type
- protein-coding
- Position
- 55,715,911–55,720,087 (+)
- Aliases
- BLOS1, BORCS1, GCN5L1, MICoA, RT14
- Ensembl
- ENSG00000135441
- RefSeq RNA
- NM_001487.4, NR_037655.2, NR_037656.2, NR_037657.2
- RefSeq protein
- NP_001478.2
BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
biogenesis of lysosomal organelles complex 1 subunit 1
- Symbol
- BLOC1S1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:55,715,911-55,720,087
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 1140
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2647
- genomic end
- 56113871
- genomic start
- 55716038
- chromosome
- human chromosome 12
- cytogenetic location
- 12q13.2
- expressed in
- caudate nucleus
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- References
- External links
- Further reading
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.
BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004).[supplied by OMIM]
Excerpted from Wikipedia’s “BLOC1S1” article, available under the CC BY-SA 4.0 licence.