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BLOC1S1 Gene

protein-coding   GIFtS: 57
GCID: GC12P056109

Biogenesis Of Lysosomal Organelles Complex-1, Subunit 1

(Previous name: GCN5 general control of amino-acid synthesis 5-like 1 (yeast))
(Previous symbol: GCN5L1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 11 2     Homolog)-Like 11
GCN5L11 2 3 5     yeast1
BLOC-1 Subunit 11 2 3     MICoA2
BLOS12 3     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 12
RT142 3     BLOC Subunit 12
GCN5-Like Protein 12 3     GCN5 (General Control Of Amino-Acid Synthesis, Yeast, Homolog)-Like 12
Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 11     GCN5 General Control Of Amino-Acid Synthesis 5-Like 12
GCN5 (General Control Of Amino-Acid Synthesis1     MTA1-Interacting Coactivator2
GCN5 General Control Of Amino-Acid Synthesis 5-Like 1 (Yeast)1     Protein RT143

External Ids:    HGNC: 42001   Entrez Gene: 26472   Ensembl: ENSG000001354417   OMIM: 6014445   UniProtKB: P785373   

Export aliases for BLOC1S1 gene to outside databases

Previous GC identifers: GC12P054397 GC12P054398 GC12P053148


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is ENSG00000258311.

UniProtKB/Swiss-Prot: BL1S1_HUMAN, P78537
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 Wiki entry for BLOC1S1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLOC1S1 gene promoter:
         E2F-3a   E2F-4   NF-1   E2F-5   E2F-2   CREB   E2F   E2F-1   deltaCREB   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLOC1S1 promoter sequence
   Search Chromatin IP Primers for BLOC1S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13-q14   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13-q14

BLOC1S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056109:  view genomic region     (about GC identifiers)

Start:
56,109,818 bp from pter      End:
56,113,871 bp from pter
Size:
4,054 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BLOC1S1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BL1S1_HUMAN, P78537 (See protein sequence)
Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 1  
Size: 153 amino acids; 17263 Da
Subunit: 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
Sequence caution: Sequence=AAB37682.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A1L4Q9 Q6NZ45
Alternative initiation: 2 isoforms:  P78537-1   P78537-2   (May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates))

Explore the universe of human proteins at neXtProt for BLOC1S1: NX_P78537

Explore proteomics data for BLOC1S1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys145
  • Modification sites at PhosphoSitePlus

  • See BLOC1S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001478.2  
    ENSEMBL proteins: 
     ENSP00000447537   ENSP00000450328   ENSP00000446619   ENSP00000448605   ENSP00000448171  
     ENSP00000450218   ENSP00000257899  
    Reactome Protein details: P78537

    BLOC1S1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BLOC1S: Biogenesis of lysosomal organelles complex-1 subunits

    1 InterPro protein domain:
     IPR009395 GCN5L1

    Graphical View of Domain Structure for InterPro Entry P78537

    ProtoNet protein and cluster: P78537

    1 Blocks protein domain: IPB009395 GCN5-like 1

    UniProtKB/Swiss-Prot: BL1S1_HUMAN, P78537
    Similarity: Belongs to the BLOC1S1 family


    Find genes that share domains with BLOC1S1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BL1S1_HUMAN, P78537
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15102850
         
    Find genes that share ontologies with BLOC1S1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bloc1s1):
     behavior/neurological  cardiovascular system  homeostasis/metabolism 

    Find genes that share phenotypes with BLOC1S1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLOC1S1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BL1S1_HUMAN, P78537: Mitochondrion intermembrane space. Mitochondrion matrix. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    lysosome4
    vacuole4
    nucleus2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005758mitochondrial intermembrane space IDA--
    GO:0005759mitochondrial matrix IDA--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol IDA--

    Find genes that share ontologies with BLOC1S1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BLOC1S1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89


    Find genes that share SuperPaths with BLOC1S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for BLOC1S1
        Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BLOC1S1
    Interactions:

        Search GeneGlobe Interaction Network for BLOC1S1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BLOC1S1 (P785371, 2, 3 ENSP000002578994) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225987P404252, 3, ENSP000004039484MINT-62526 I2D: score=3 STRING: ENSP00000403948
    ENSG00000237344P404252, 3, ENSP000003971774MINT-62526 I2D: score=3 STRING: ENSP00000397177
    PBX2P404252, 3, ENSP000003641904MINT-62526 I2D: score=3 STRING: ENSP00000364190
    ENSG00000206315P404252, 3MINT-62526 I2D: score=3 
    ENSG00000224952P404252, 3MINT-62526 I2D: score=3 
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0009060aerobic respiration IMP--
    GO:0018394peptidyl-lysine acetylation IMP--
    GO:0031175neuron projection development ISS--

    Find genes that share ontologies with BLOC1S1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BLOC1S1 (BL1S1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BLOC1S1 gene: 
    NM_001487.3  

    Unigene Cluster for BLOC1S1:

    Biogenesis of lysosomal organelles complex-1, subunit 1
    Hs.94672  [show with all ESTs]
    Unigene Representative Sequence: BM549702
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548925 ENST00000549147(uc001shi.3 uc021qys.1 uc009zny.2)
    ENST00000553100 ENST00000547076(uc021qyu.1 uc021qyv.1) ENST00000551926
    ENST00000548556 ENST00000257899
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      QuantiFast Probe-based Assays in human, mouse, rat BLOC1S1

    Additional mRNA sequence: 

    AK307069.1 BC066340.1 BC130640.1 BC132795.1 D64007.1 NR_037655.1 NR_037656.1 NR_037657.1 
    S82447.1 

    17 DOTS entries:

    DT.91745982  DT.455335  DT.99952244  DT.100830832  DT.121147450  DT.100059454  DT.97800295  DT.100793875 
    DT.95099054  DT.114903  DT.121147449  DT.91745975  DT.121147396  DT.121147497  DT.95341250  DT.91745984 
    DT.97784049 

    Selected AceView cDNA sequences (see all 362):

    CB109194 BM694639 CB109725 BM772436 CB110693 F31883 BM773050 BM693268 
    AA314695 BM741085 BM811067 AA554732 BQ899204 AW444876 BF725471 BM784121 
    BF195132 AJ710599 BQ637101 AV656796 BM765280 BU902579 AI669536 BC028298 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S1    About this scheme

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


    ECgene alternative splicing isoforms for BLOC1S1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BLOC1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCACCATTG
    BLOC1S1 Expression
    About this image


    BLOC1S1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    BLOC1S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLOC1S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.94672
        Custom PCR Arrays for BLOC1S1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BLOC1S1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bloc1s11 , 5 biogenesis of lysosome-related organelles complex-1, more5
    biogenesis of lysosomal organelles complex-1, subunit more1
    94.67(n)1
    99.2(a)1
      10 (77.19 cM)5
    145331  NM_015740.31  NP_056555.21 
     1289178825 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    77(a)
    1 → many
    GL343198.1(1909010-1921088)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237322 Xenopus laevis transcribed sequence with moderate similarity more 78.63(n)    AW641345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.205262 Transcribed sequence with moderate similarity to protein more 77.27(n)    57077081 
    fruit fly
    (Drosophila melanogaster)
    Insecta blos11 BLOC-1 subunit 1 60.73(n)
    57.63(a)
      246439  NM_166060.2  NP_725401.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_T20G5.101 CELE_T20G5.10 55.07(n)
    53.04(a)
      176435  NM_066861.3  NP_499262.1 


    ENSEMBL Gene Tree for BLOC1S1 (if available)
    TreeFam Gene Tree for BLOC1S1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLOC1S1 gene
    ENSG000002583112  

    Find genes that share paralogs with BLOC1S1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BLOC1S1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469410CNV Loss19166990
    nsv525231CNV Loss19592680
    nsv832423CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLOC1S1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601444    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for BLOC1S1:
    Hermansky-Pudlak syndrome

    Find genes that share disorders with BLOC1S1           About GenesLikeMe

    Genetic Association Database (GAD): BLOC1S1
    Human Genome Epidemiology (HuGE) Navigator: BLOC1S1 (2 documents)

    Export disorders for BLOC1S1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BLOC1S1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with BLOC1S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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). (PubMed id 15102850)1, 2, 3, 9 Starcevic M. and Dell'Angelica E.C. (J. Biol. Chem. 2004)
    2. Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator. (PubMed id 8646881)1, 2, 3 Inoue M....Nakamura Y. (Cytogenet. Cell Genet. 1996)
    3. Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1. (PubMed id 22309213)1, 2 Scott I.... Sack M.N. (Biochem. J. 2012)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode. (PubMed id 8770567)1, 2 Watanabe T.K.... Hirai Y. (DNA Res. 1995)
    6. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PubMed id 17618940)1, 9 Morris D.W....Corvin A.P. (Biol. Psychiatry 2008)
    7. The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type III+. (PubMed id 23676666)1 Ryder P.V....Faundez V. (Mol. Biol. Cell 2013)
    8. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. (PubMed id 22554196)1 Yang Q....Li W. (Traffic 2012)
    9. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. (PubMed id 22423091)1 Gokhale A....Faundez V. (J. Neurosci. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2647 HGNC: 4200 AceView: BLOC1S1andRDH5 Ensembl:ENSG00000135441 euGenes: HUgn2647
    ECgene: BLOC1S1 H-InvDB: BLOC1S1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BLOC1S1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLOC1S1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLOC1S1 gene:
    Search GeneIP for patents involving BLOC1S1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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