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Aliases for BLOC1S1 Gene

Aliases for BLOC1S1 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1 2 3 5
  • BLOC-1 Subunit 1 2 3 4
  • GCN5 (General Control Of Amino-Acid Synthesis, Yeast, Homolog)-Like 1 2 3
  • GCN5-Like Protein 1 3 4
  • GCN5L1 3 4
  • BLOS1 3 4
  • RT14 3 4
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 1 3
  • Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 1 2
  • GCN5 General Control Of Amino-Acid Synthesis 5-Like 1 (Yeast) 2
  • GCN5 General Control Of Amino-Acid Synthesis 5-Like 1 3
  • MTA1-Interacting Coactivator 3
  • Protein RT14 4
  • BORCS1 3
  • MICoA 3

External Ids for BLOC1S1 Gene

Previous HGNC Symbols for BLOC1S1 Gene

  • GCN5L1

Previous GeneCards Identifiers for BLOC1S1 Gene

  • GC12P054397
  • GC12P054398
  • GC12P056109
  • GC12P053148

Summaries for BLOC1S1 Gene

Entrez Gene Summary for BLOC1S1 Gene

  • 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]

GeneCards Summary for BLOC1S1 Gene

BLOC1S1 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. An important paralog of this gene is ENSG00000258311.

UniProtKB/Swiss-Prot for BLOC1S1 Gene

  • Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).

  • May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.

Gene Wiki entry for BLOC1S1 Gene

Additional gene information for BLOC1S1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S1 Gene

Genomics for BLOC1S1 Gene

GeneHancer (GH) Regulatory Elements for BLOC1S1 Gene

Promoters and enhancers for BLOC1S1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J055715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 658.1 +2.6 2638 7.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RDH5 ITGA7 BLOC1S1 PIR49113 PIR46127 BAZ2A DNAJC14 RN7SL809P TMEM198B CDK2
GH12J055702 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 656.3 -9.4 -9385 8.1 FOXA2 SIN3A GLIS2 ZNF143 ATF7 SP3 SP5 GLIS1 WT1 FOXP1 ITGA7 BLOC1S1 RN7SL809P OR10A7 OR6C74 RPL41 RBMS2 METTL7B BAZ2A CD63
GH12J055742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 +28.4 28392 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B GDF11 BAZ2A DNAJC14 MMP19 RN7SL809P CDK2 ZC3H10 TMEM198B ORMDL2 OR6C74
GH12J055645 Enhancer 1.4 Ensembl ENCODE dbSUPER 11 -69.5 -69462 1.9 HDGF ARNT ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF416 ZNF207 ZNF143 OR10AE3P SMARCC2 ANKRD52 PHC1P1 DNAJC14 IKZF4 PAN2 TMEM198B IL23A ENSG00000257740
GH12J055711 Enhancer 1.1 Ensembl ENCODE dbSUPER 8.9 -3.0 -3033 2.6 NFIB JUN ZFP91 ATF7 FOS RXRA CEBPB ATF2 SP1 NFIC ITGA7 BLOC1S1 OR10P1 BLOC1S1-RDH5 METTL7B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BLOC1S1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BLOC1S1 gene promoter:

Genomic Locations for BLOC1S1 Gene

Genomic Locations for BLOC1S1 Gene
chr12:55,716,034-55,720,087
(GRCh38/hg38)
Size:
4,054 bases
Orientation:
Plus strand
chr12:56,109,818-56,113,871
(GRCh37/hg19)

Genomic View for BLOC1S1 Gene

Genes around BLOC1S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S1 Gene

Proteins for BLOC1S1 Gene

  • Protein details for BLOC1S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78537-BL1S1_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 1
    Protein Accession:
    P78537
    Secondary Accessions:
    • A1L4Q9
    • Q6NZ45

    Protein attributes for BLOC1S1 Gene

    Size:
    153 amino acids
    Molecular mass:
    17263 Da
    Quaternary structure:
    • Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8 (PubMed:15102850, PubMed:22203680). The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos (By similarity). Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Interacts with ATP5F1A and NDUFA9; involved in their acetylation on lysine residues (PubMed:22309213). Interacts with KXD1 (By similarity).
    SequenceCaution:
    • Sequence=AAB37682.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BLOC1S1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLOC1S1 Gene

Post-translational modifications for BLOC1S1 Gene

  • Ubiquitination at posLast=145145
  • Modification sites at PhosphoSitePlus

Other Protein References for BLOC1S1 Gene

No data available for DME Specific Peptides for BLOC1S1 Gene

Domains & Families for BLOC1S1 Gene

Gene Families for BLOC1S1 Gene

Protein Domains for BLOC1S1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78537

UniProtKB/Swiss-Prot:

BL1S1_HUMAN :
  • Belongs to the BLOC1S1 family.
Family:
  • Belongs to the BLOC1S1 family.
genes like me logo Genes that share domains with BLOC1S1: view

Function for BLOC1S1 Gene

Molecular function for BLOC1S1 Gene

UniProtKB/Swiss-Prot Function:
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).
UniProtKB/Swiss-Prot Function:
May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.

Phenotypes From GWAS Catalog for BLOC1S1 Gene

Gene Ontology (GO) - Molecular Function for BLOC1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15102850
genes like me logo Genes that share ontologies with BLOC1S1: view
genes like me logo Genes that share phenotypes with BLOC1S1: view

Animal Models for BLOC1S1 Gene

MGI Knock Outs for BLOC1S1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BLOC1S1 Gene

Localization for BLOC1S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S1 Gene

Mitochondrion intermembrane space. Mitochondrion matrix. Cytoplasm, cytosol. Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLOC1S1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
lysosome 5
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for BLOC1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IBA --
GO:0005758 mitochondrial intermembrane space IEA,IDA 22309213
GO:0005759 mitochondrial matrix IEA,IDA 22309213
genes like me logo Genes that share ontologies with BLOC1S1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BLOC1S1 Gene

Pathways & Interactions for BLOC1S1 Gene

genes like me logo Genes that share pathways with BLOC1S1: view

Gene Ontology (GO) - Biological Process for BLOC1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008089 anterograde axonal transport ISS --
GO:0009060 aerobic respiration IMP 22309213
GO:0016197 endosomal transport IBA --
GO:0018394 peptidyl-lysine acetylation IMP 22309213
GO:0031175 neuron projection development ISS --
genes like me logo Genes that share ontologies with BLOC1S1: view

No data available for SIGNOR curated interactions for BLOC1S1 Gene

Drugs & Compounds for BLOC1S1 Gene

No Compound Related Data Available

Transcripts for BLOC1S1 Gene

mRNA/cDNA for BLOC1S1 Gene

Unigene Clusters for BLOC1S1 Gene

Biogenesis of lysosomal organelles complex-1, subunit 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - - -
SP2: -
SP3: - -
SP4: - - - -
SP5: - -

Relevant External Links for BLOC1S1 Gene

GeneLoc Exon Structure for
BLOC1S1
ECgene alternative splicing isoforms for
BLOC1S1

Expression for BLOC1S1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BLOC1S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BLOC1S1 Gene

This gene is overexpressed in Pancreas (8.9) and Bone marrow stromal cell (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BLOC1S1 Gene



Protein tissue co-expression partners for BLOC1S1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BLOC1S1 Gene:

BLOC1S1

SOURCE GeneReport for Unigene cluster for BLOC1S1 Gene:

Hs.94672

Evidence on tissue expression from TISSUES for BLOC1S1 Gene

  • Nervous system(4.5)
  • Heart(2.6)
  • Liver(2.5)
  • Muscle(2.4)
  • Spleen(2.4)
  • Intestine(2.3)
  • Kidney(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with BLOC1S1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLOC1S1 Gene

Orthologs for BLOC1S1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BLOC1S1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S1 33
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bloc1s1 16 34 33
  • 94.67 (n)
cow
(Bos Taurus)
Mammalia BLOC1S1 33
  • 94.4 (n)
rat
(Rattus norvegicus)
Mammalia Bloc1s1 33
  • 93.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 77 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s1 33
  • 77.87 (n)
Str.17813 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23732 33
zebrafish
(Danio rerio)
Actinopterygii bloc1s1 34
  • 90 (a)
OneToMany
LOC556597 33
  • 77.33 (n)
Dr.20526 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001887 33
  • 60.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta blos1 34 33
  • 60.73 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_T20G5.10 33
  • 55.07 (n)
blos-1 34
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for BLOC1S1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BLOC1S1 Gene

ENSEMBL:
Gene Tree for BLOC1S1 (if available)
TreeFam:
Gene Tree for BLOC1S1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLOC1S1: view image

Paralogs for BLOC1S1 Gene

Paralogs for BLOC1S1 Gene

genes like me logo Genes that share paralogs with BLOC1S1: view

Variants for BLOC1S1 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000187510 -- 55,717,855(+) G/A intron_variant
rs1001011850 -- 55,716,436(+) C/T intron_variant, non_coding_transcript_variant
rs1002161774 -- 55,718,333(+) C/T intron_variant
rs1002165810 -- 55,715,971(+) A/G upstream_transcript_variant
rs1002603694 -- 55,719,753(+) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S1 Gene

Variant ID Type Subtype PubMed ID
nsv469410 CNV loss 19166990
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv832423 CNV gain 17160897

Variation tolerance for BLOC1S1 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLOC1S1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S1 Gene

Disorders for BLOC1S1 Gene

Additional Disease Information for BLOC1S1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BLOC1S1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BLOC1S1 Gene

Publications for BLOC1S1 Gene

  1. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 15102850) Starcevic M … Dell'Angelica EC (The Journal of biological chemistry 2004) 2 3 4 22 58
  2. Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator. (PMID: 8646881) Inoue M … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 58
  3. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J … Bonifacino JS (Developmental cell 2015) 3 4 58
  4. Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1. (PMID: 22309213) Scott I … Sack MN (The Biochemical journal 2012) 3 4 58
  5. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee HH … Hurley JH (The Journal of biological chemistry 2012) 3 4 58

Products for BLOC1S1 Gene

Sources for BLOC1S1 Gene

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