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 2-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BLOC1S1 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55716046..55719703)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55682682..55686337)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough BLOC1S1-RDH5

    Readthrough gene: BLOC1S1-RDH5, Included gene: RDH5

    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

    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)

    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_001487.4NP_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:33145
      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_2024_08

    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)