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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 2
  • GCN5 General Control Of Amino-Acid Synthesis 5-Like 1 (Yeast) 2
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 1 3
  • GCN5 General Control Of Amino-Acid Synthesis 5-Like 1 3
  • MTA1-Interacting Coactivator 3
  • BLOC Subunit 1 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 ATP5A1 and NDUFA9.

Gene Wiki entry 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

Regulatory Elements for BLOC1S1 Gene

Enhancers for BLOC1S1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G055645 1.6 Ensembl ENCODE dbSUPER 11 -69.5 -69462 1.9 HDGF ARNT ZNF2 YY1 ZNF766 ZNF416 ZNF143 ZNF207 REST ZNF592 ITGA7 BLOC1S1 SMARCC2 ANKRD52 OR10P1 OR10AE3P
GH12G055715 1.7 Ensembl ENCODE dbSUPER 8.1 +2.6 2638 7.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 BAZ2A RDH5 RN7SL809P ENSG00000258199 CDK2 ITGA7 TMEM198B RNU6-343P ZC3H10 ENSG00000257740
GH12G055742 1.3 ENCODE dbSUPER 10.5 +28.4 28393 4.6 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B ZNF143 CDK2 BAZ2A RN7SL809P TMEM198B RNU6-343P ZC3H10 SUOX ITGA7 BLOC1S1 ORMDL2
GH12G055711 1.4 Ensembl ENCODE dbSUPER 8.9 -3.0 -3033 2.6 HDAC1 PKNOX1 NFIB SIN3A NFXL1 TCF12 ZNF766 GATA2 FOS ZNF263 ITGA7 BLOC1S1 OR10P1 BLOC1S1-RDH5 METTL7B
GH12G055649 1 FANTOM5 ENCODE 11 -65.0 -64995 3.2 CTCF ZNF10 ZNF491 ZSCAN21 CBX5 POLR2A ZNF585B ZBTB33 ZNF600 KLF13 ANKRD52 PHC1P1 BLOC1S1 ITGA7 MMP19 ORMDL2 OR10P1 RNF41 ZC3H10 GC12P055653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BLOC1S1 on UCSC Golden Path with GeneCards custom track

Promoters for BLOC1S1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052438 366 1201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for BLOC1S1 Gene

Chromosome:
12
Start:
55,716,034 bp from pter
End:
55,720,087 bp from pter
Size:
4,054 bases
Orientation:
Plus strand

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 ATP5A1 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

Protein Domains for BLOC1S1 Gene

InterPro:
Blocks:
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 ATP5A1 and NDUFA9.

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

CRISPR Products

Inhibitory RNA 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 IDA 23580065
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IDA,IEA 22309213
GO:0005759 mitochondrial matrix IEA,IDA 22309213
genes like me logo Genes that share ontologies with BLOC1S1: view

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

Unigene Clusters for BLOC1S1 Gene

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

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bloc1s1 34 16 35
  • 94.67 (n)
cow
(Bos Taurus)
Mammalia BLOC1S1 34
  • 94.4 (n)
rat
(Rattus norvegicus)
Mammalia Bloc1s1 34
  • 93.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s1 34
  • 77.87 (n)
Str.17813 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23732 34
zebrafish
(Danio rerio)
Actinopterygii bloc1s1 35
  • 90 (a)
OneToMany
LOC556597 34
  • 77.33 (n)
Dr.20526 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001887 34
  • 60.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta blos1 34 35
  • 60.73 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_T20G5.10 34
  • 55.07 (n)
blos-1 35
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs1000187510 -- 55,717,855(+) AGCAG(A/G)TGGTC intron-variant, upstream-variant-2KB
rs1001011850 -- 55,716,436(+) TGCCG(C/T)ACCTT intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1002161774 -- 55,718,333(+) AAATT(C/T)AACAG intron-variant
rs1002165810 -- 55,715,971(+) CCTCT(A/G)CCTCT upstream-variant-2KB, utr-variant-5-prime
rs1002603694 -- 55,719,753(+) GTGGG(A/G)GTGGA intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for BLOC1S1

Genetic Association Database (GAD)
BLOC1S1
Human Genome Epidemiology (HuGE) Navigator
BLOC1S1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLOC1S1

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 E.C. (J. Biol. Chem. 2004) 2 3 4 22 64
  2. Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator. (PMID: 8646881) Inoue M. … Nakamura Y. (Cytogenet. Cell Genet. 1996) 2 3 4 64
  3. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J. … Bonifacino J.S. (Dev. Cell 2015) 3 4 64
  4. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee H.H. … Hurley J.H. (J. Biol. Chem. 2012) 3 4 64
  5. Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1. (PMID: 22309213) Scott I. … Sack M.N. (Biochem. J. 2012) 3 4 64

Products for BLOC1S1 Gene

Sources for BLOC1S1 Gene

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