Bloc1s1 biogenesis of lysosomal organelles complex-1, subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bloc1s1provided by MGI
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 1provided by MGI
Primary source: MGI:MGI:1195276
See related: Ensembl:ENSMUSG00000090247 AllianceGenome:MGI:1195276
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BLOS1; Gcn5l1
Summary: Involved in anterograde synaptic vesicle transport. Located in cytosol; early endosome; and mitochondrion. Part of BLOC-1 complex. Is expressed in brain; long bone epiphyseal plate hypertrophic zone; and long bone epiphyseal plate proliferative zone. Orthologous to human BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 75.2), bladder adult (RPKM 63.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 77.19 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (128755783..128759393, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (128919914..128923524, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Drp1 acetylation mediated by CDK5-AMPK-GCN5L1 axis promotes cerebral ischemic injury via facilitating mitochondrial fission.
Title: Drp1 acetylation mediated by CDK5-AMPK-GCN5L1 axis promotes cerebral ischemic injury via facilitating mitochondrial fission.
Loss of GCN5L1 exacerbates damage in alcoholic liver disease through ferroptosis activation.
Title: Loss of GCN5L1 exacerbates damage in alcoholic liver disease through ferroptosis activation.
Cardiomyocyte-specific deletion of GCN5L1 reduces lysine acetylation and attenuates diastolic dysfunction in aged mice by improving cardiac fatty acid oxidation.
Title: Cardiomyocyte-specific deletion of GCN5L1 reduces lysine acetylation and attenuates diastolic dysfunction in aged mice by improving cardiac fatty acid oxidation.
GCN5L1 regulates pulmonary surfactant production by modulating lamellar body biogenesis and trafficking in mouse alveolar epithelial cells.
Title: GCN5L1 regulates pulmonary surfactant production by modulating lamellar body biogenesis and trafficking in mouse alveolar epithelial cells.
Retrograde regulation of mitochondrial fission and epithelial to mesenchymal transition in hepatocellular carcinoma by GCN5L1.
Title: Retrograde regulation of mitochondrial fission and epithelial to mesenchymal transition in hepatocellular carcinoma by GCN5L1.
The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis.
Title: The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis.
GCN5L1-mediated TFAM acetylation at K76 participates in mitochondrial biogenesis in acute kidney injury.
Title: GCN5L1-mediated TFAM acetylation at K76 participates in mitochondrial biogenesis in acute kidney injury.
GCN5L1 impairs diastolic function in mice exposed to a high fat diet by restricting cardiac pyruvate oxidation.
Title: GCN5L1 impairs diastolic function in mice exposed to a high fat diet by restricting cardiac pyruvate oxidation.
Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
Title: Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
BLOC1S1/GCN5L1/BORCS1 is a critical mediator for the initiation of autolysosomal tubulation.
Title: BLOC1S1/GCN5L1/BORCS1 is a critical mediator for the initiation of autolysosomal tubulation.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237761

AI839753 (e-PCR)
- UniSTS:166093

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables peptide-lysine-N-acetyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in aerobic respiration	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterograde synaptic vesicle transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysosome localization	NAS Non-traceable Author Statement more info	PubMed
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in neuron projection development	NAS Non-traceable Author Statement more info	PubMed
involved_in organelle transport along microtubule	NAS Non-traceable Author Statement more info	PubMed
involved_in peptidyl-lysine acetylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-lysine acetylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
part_of BORC complex	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: biogenesis of lysosome-related organelles complex 1 subunit 1

Names: BLOC-1 subunit 1; GCN5 general control of amino acid synthesis-like 1; GCN5-like protein 1; biogenesis of lysosome-related organelles complex-1, subunit 1; general control of amino acid synthesis, yeast homolog-like 1; general control of amino acid synthesis-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.