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Aliases for BLOC1S1 Gene

Aliases for BLOC1S1 Gene

  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 1 2 3
  • BLOC-1 Subunit 1 2 3 4
  • GCN5L1 3 4 6
  • GCN5-Like Protein 1 3 4
  • BLOS1 3 4
  • RT14 3 4
  • GCN5 (General Control Of Amino-Acid Synthesis, Yeast, Homolog)-Like 1 3
  • 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
  • GCN5 (General Control Of Amino-Acid Synthesis 2
  • MTA1-Interacting Coactivator 3
  • Homolog)-Like 1 2
  • BLOC Subunit 1 3
  • Protein RT14 4
  • Yeast 2
  • 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. Diseases associated with BLOC1S1 include hermansky-pudlak syndrome. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. 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. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S1 Gene

Genomics for BLOC1S1 Gene

Regulatory Elements for BLOC1S1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BLOC1S1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Interacts with KXD1 (By similarity). 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. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with ATP5A1 and NDUFA9; involved in their acetylation on lysine residues.
    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

Proteomics data for BLOC1S1 Gene at MOPED

Post-translational modifications for BLOC1S1 Gene

  • Ubiquitination at Lys145
  • Modification sites at PhosphoSitePlus

Other Protein References for BLOC1S1 Gene

No data available for DME Specific Peptides for BLOC1S1 Gene

Domains for BLOC1S1 Gene

Gene Families for BLOC1S1 Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

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 :
  • P78537
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. 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 Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLOC1S1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLOC1S1 Gene COMPARTMENTS Subcellular localization image for BLOC1S1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
lysosome 4
vacuole 4
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:0005758 mitochondrial intermembrane space IDA 22309213
GO:0005759 mitochondrial matrix IDA 22309213
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IDA 22309213
genes like me logo Genes that share ontologies with BLOC1S1: view

Pathways 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:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0008089 anterograde axon cargo transport ISS --
GO:0009060 aerobic respiration IMP 22309213
GO:0018394 peptidyl-lysine acetylation IMP 22309213
GO:0031175 neuron projection development ISS --
genes like me logo Genes that share ontologies with BLOC1S1: view

Transcripts for BLOC1S1 Gene

Unigene Clusters for BLOC1S1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLOC1S1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BLOC1S1

Flow Cytometry 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 for BLOC1S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLOC1S1 Gene

SOURCE GeneReport for Unigene cluster for BLOC1S1 Gene Hs.94672

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia BLOC1S1 35
  • 94.4 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bloc1s1 35
  • 94.67 (n)
  • 99.2 (a)
Bloc1s1 16
Bloc1s1 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bloc1s1 35
  • 93.33 (n)
  • 100 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.23732 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s1 35
  • 77.87 (n)
  • 86.4 (a)
Str.17813 35
zebrafish
(Danio rerio)
Actinopterygii bloc1s1 36
  • 90 (a)
OneToMany
Dr.20526 35
LOC556597 35
  • 77.33 (n)
  • 89.6 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001887 35
  • 60.97 (n)
  • 64.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta blos1 35
  • 60.73 (n)
  • 57.63 (a)
blos1 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea blos-1 36
  • 48 (a)
OneToMany
CELE_T20G5.10 35
  • 55.07 (n)
  • 53.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for BLOC1S1:
  • 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

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

Variant ID Type Subtype PubMed ID
nsv525231 CNV Loss 19592680
nsv832423 CNV Gain 17160897
nsv469410 CNV Loss 19166990

Relevant External Links for BLOC1S1 Gene

HapMap Linkage Disequilibrium report
BLOC1S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for BLOC1S1 Gene

Disorders for BLOC1S1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for BLOC1S1 Gene including...

Search for BLOC1S1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for BLOC1S1 Gene

Relevant External Links for BLOC1S1

Genetic Association Database (GAD)
BLOC1S1
Human Genome Epidemiology (HuGE) Navigator
BLOC1S1
genes like me logo Genes that share disorders with BLOC1S1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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
  3. Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode. (PMID: 8770567) Watanabe T.K. … Hirai Y. (DNA Res. 1995) 3 4
  4. 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
  5. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PMID: 17618940) Morris D.W. … Corvin A.P. (Biol. Psychiatry 2008) 3 23

Products for BLOC1S1 Gene

Sources for BLOC1S1 Gene

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