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BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 [ Homo sapiens (human) ]

Gene ID: 2647, updated on 7-Sep-2023

Summary

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Official Symbol
BLOC1S1provided by HGNC
Official Full Name
biogenesis of lysosomal organelles complex 1 subunit 1provided by HGNC
Primary source
HGNC:HGNC:4200
See related
Ensembl:ENSG00000135441 MIM:601444; AllianceGenome:HGNC:4200
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RT14; BLOS1; MICoA; BORCS1; GCN5L1
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 39.9), kidney (RPKM 33.3) and 25 other tissues See more
Orthologs
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Genomic context

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See BLOC1S1 in Genome Data Viewer
Location:
12q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55716046..55719703)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55682682..55686337)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56109830..56113487)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2573 Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56075179-56075854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56078881-56079380 Neighboring gene thiol methyltransferase 1B Neighboring gene integrin subunit alpha 7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene retinol dehydrogenase 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene CD63 molecule Neighboring gene CD63 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GCN5L1 controls renal lipotoxicity through regulating acetylation of fatty acid oxidation enzymes. Lv T, et al. J Physiol Biochem, 2019 Nov. PMID 31760589
  2. Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode. Watanabe TK, et al. DNA Res, 1995 Oct 31. PMID 8770567
  3. Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator. Inoue M, et al. Cytogenet Cell Genet, 1996. PMID 8646881
  4. The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis. Wu K, et al. Biochem Biophys Res Commun, 2023 Jan 29. PMID 36535215,
  5. Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma. Zhang T, et al. Clin Transl Med, 2022 May. PMID 35538890, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
    Title: Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
  3. A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.
    Title: A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.
  4. General Control of Amino Acid Synthesis 5-Like 1-Mediated Acetylation of Manganese Superoxide Dismutase Regulates Oxidative Stress in Diabetic Kidney Disease.
    Title: General Control of Amino Acid Synthesis 5-Like 1-Mediated Acetylation of Manganese Superoxide Dismutase Regulates Oxidative Stress in Diabetic Kidney Disease.
  5. Deletion of GCN5L1 in cardiomyocytes resulted in impaired myocardial post-ischemic function and increased infarct development.
    Title: Cardiac-specific deletion of GCN5L1 restricts recovery from ischemia-reperfusion injury.
  6. The authors concluded that GCN5L1 increases lipotoxicity and epithelial-mesenchymal transition by promoting acetylation of LCAD (long-chain acyl-CoA dehydrogenase) and beta-HAD (beta-hydroxyacyl-CoA dehydrogenase).
    Title: GCN5L1 controls renal lipotoxicity through regulating acetylation of fatty acid oxidation enzymes.
  7. The interactions of GCN5L1, RanBP2 and alphaTAT1 function in concert to control alpha-tubulin acetylation and may contribute towards the regulation of cellular lysosome positioning.
    Title: GCN5L1 interacts with αTAT1 and RanBP2 to regulate hepatic α-tubulin acetylation and lysosome trafficking.
  8. Using cancer cell lines, the study shows that BLOC1S1 mRNA is specifically cleaved by IRE1 at guanine 444, but only under conditions of IRE1 hyperactivation.
    Title: Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.
  9. The Hermansky-Pudlak syndrome complex BLOC-1 and its cargo PI4KIIalpha interact with regulators of the actin cytoskeleton.
    Title: The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.
  10. BLOS1 interacts with KXD1.
    Title: The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough BLOC1S1-RDH5

Readthrough gene: BLOC1S1-RDH5, Included gene: RDH5

Homology

Clone Names

  • FLJ39337, FLJ97089, MGC87455

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in lysosome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in organelle transport along microtubule NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in peptidyl-lysine acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
 PubMed 
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
 PubMed 
part_of BLOC-1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BLOC-1 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of BORC complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BORC complex IPI
Inferred from Physical Interaction
more info
 PubMed 
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 early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space HDA PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
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, yeast, homolog)-like 1
GCN5 general control of amino-acid synthesis 5-like 1
GCN5-like protein 1
MTA1-interacting coactivator

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.

mRNA and Protein(s)

  1. NM_001487.4 → NP_001478.2  biogenesis of lysosome-related organelles complex 1 subunit 1

    See identical proteins and their annotated locations for NP_001478.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AC009779
    Consensus CDS
    CCDS8889.2
    UniProtKB/Swiss-Prot
    A1L4Q9, P78537, Q6NZ45
    Related
    ENSP00000447537.1, ENST00000548925.6
    Conserved Domains (1) summary
    pfam06320
    Location:33 → 145
    GCN5L1; GCN5-like protein 1 (GCN5L1)

RNA

  1. NR_037655.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI816035, DA864590
    Related
    ENST00000553100.1

  2. NR_037656.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
    Source sequence(s)
    AI673441, BQ899204, BU601406

  3. NR_037657.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon and lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
    Source sequence(s)
    BQ899204, CN263524
    Related
    ENST00000548556.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55716046..55719703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55682682..55686337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78537.2 GenPept UniProtKB/Swiss-Prot:P78537

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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