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

Gene ID: 2647, updated on 11-Sep-2019

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
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

Genomic context

See BLOC1S1 in Genome Data Viewer
Location:
12q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55716034..55719707)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56109818..56113491)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2573 Neighboring gene methyltransferase like 7B Neighboring gene integrin subunit alpha 7 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene retinol dehydrogenase 5 Neighboring gene uncharacterized LOC105369779 Neighboring gene CD63 molecule

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome organization NAS
Non-traceable Author Statement
more info
PubMed 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-lysine acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet dense granule organization NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
BLOC-1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001487.3NP_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)
    AI673441, BC130640, D64007, DA864590
    Consensus CDS
    CCDS8889.2
    UniProtKB/Swiss-Prot
    P78537
    Related
    ENSP00000447537.1, ENST00000548925.5
    Conserved Domains (1) summary
    pfam06320
    Location:33145
    GCN5L1; GCN5-like protein 1 (GCN5L1)

RNA

  1. NR_037655.1 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)
    AI673441, AI816035, DA864590
    Related
    ENST00000553100.1
  2. NR_037656.1 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
    Related
    ENST00000547076.5
  3. NR_037657.1 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)
    AI673441, BQ899204, CN263524

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    55716034..55719707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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