U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 2647, updated on 17-Jun-2024

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See BLOC1S1 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55716046..55719703)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 6451 Neighboring gene VISTA enhancer hs2573 Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6453 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 ATAC-STARR-seq lymphoblastoid silent region 4534 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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, Free PMC Article
    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. GCN5L1-mediated acetylation prevents Rictor degradation in cardiac cells after hypoxic stress.
      Title: GCN5L1-mediated acetylation prevents Rictor degradation in cardiac cells after hypoxic stress.
    2. 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.
    3. Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
      Title: Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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
    		  
    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
    		  
    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_10

    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
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous