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

Gene ID: 2647, updated on 7-Apr-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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 
enables protein-lysine-acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in aerobic respiration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in anterograde axonal transport IEA
Inferred from Electronic Annotation
more info
 
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anterograde synaptic vesicle transport IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
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 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 IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 

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
protein acetyltransferase BLOC1S1

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_001487.4NP_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)