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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
Title: Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.
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.
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.
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.
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.
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.
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.
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

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough BLOC1S1-RDH5

Readthrough gene: BLOC1S1-RDH5, Included gene: RDH5

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptide-lysine-N-acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 more info	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)

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

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
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
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