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BLOC1S3 Gene

protein-coding   GIFtS: 52
GCID: GC19P045682

Biogenesis Of Lysosomal Organelles Complex-1, Subunit 3

  See BLOC1S3-related diseases
at  

(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 31 2     Hermansky-Pudlak Syndrome 81
BLOC-1 Subunit 31 2 3     RP2
BLOS32 3 5     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 32
HPS82 5     Biogenesis Of Lysosome-Related Organelles Complex-1, Subunit 32
Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 31     Reduced Pigmentation, Mouse, Homolog Of2

External Ids:    HGNC: 209141   Entrez Gene: 3885522   Ensembl: ENSG000001891147   OMIM: 6097625   UniProtKB: Q6QNY03   

Export aliases for BLOC1S3 gene to outside databases

Previous GC identifers: GC19P050373 GC19P050374 GC19P042112


(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 BLOC1S3 Gene:
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is
necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet
dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized
by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.
(provided by RefSeq, Jul 2008)

GeneCards Summary for BLOC1S3 Gene:
BLOC1S3 (biogenesis of lysosomal organelles complex-1, subunit 3) is a protein-coding gene. Diseases associated with BLOC1S3 include hermansky-pudlak syndrome 8, and platelet storage pool deficiency.

UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0
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. Plays a role in intracellular vesicle trafficking




(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_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLOC1S3 gene promoter:
         AP-2rep   PPAR-alpha   ER-alpha   c-Rel   NF-1   NF-1/L   Elk-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLOC1S3 promoter sequence
   Search Chromatin IP Primers for BLOC1S3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S3


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

BLOC1S3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045682:  view genomic region     (about GC identifiers)

Start:
45,682,003 bp from pter      End:
45,685,059 bp from pter
Size:
3,057 bases      Orientation:
plus strand

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0 (See protein sequence)
Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 3  
Size: 202 amino acids; 21256 Da
Subunit: Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (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 directly with BLOC1S2
Secondary accessions: B2RXB8

Explore the universe of human proteins at neXtProt for BLOC1S3: NX_Q6QNY0

Explore proteomics data for BLOC1S3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BLOC1S3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997715.1  
    ENSEMBL proteins: 
     ENSP00000393840   ENSP00000468281   ENSP00000466798  
    Reactome Protein details: Q6QNY0

    BLOC1S3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for BLOC1S3

     
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    LSBio Antibodies in human, mouse, rat for BLOC1S3

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    Search eBioscience for ELISAs for BLOC1S3 


    (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:
     IPR017245 BLOC-1_complex_su-3

    Graphical View of Domain Structure for InterPro Entry Q6QNY0

    ProtoNet protein and cluster: Q6QNY0

    UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0
    Similarity: Belongs to the BLOC1S3 family


    Find genes that share domains with BLOC1S3           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: BL1S3_HUMAN, Q6QNY0
    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. Plays a role in intracellular vesicle trafficking

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI15102850
         
    Find genes that share ontologies with BLOC1S3           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bloc1s3):
     behavior/neurological  cellular  craniofacial  hearing/vestibular/ear  hematopoietic system 
     immune system  integument  limbs/digits/tail  pigmentation  vision/eye 

    Find genes that share phenotypes with BLOC1S3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLOC1S3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BLOC1S3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BLOC1S3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BLOC1S3

    miRNA
    Products:
        
    miRTarBase miRNAs that target BLOC1S3:
    hsa-mir-378a-3p (MIRT043947)

    Block miRNA regulation of human, mouse, rat BLOC1S3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate BLOC1S3:
    hsa-miR-4283
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BLOC1S3
    Predesigned siRNA for gene silencing in human, mouse, rat BLOC1S3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for BLOC1S3 (see all 7)
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    GenScript: all cDNA clones in your preferred vector: BLOC1S3 (NM_212550)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BLOC1S3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S3


    (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
    BL1S3_HUMAN, Q6QNY0: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus3
    lysosome2
    mitochondrion2
    vacuole2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0030133transport vesicle IDA17182842
    GO:0031083BLOC-1 complex IDA15102850

    Find genes that share ontologies with BLOC1S3           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 BLOC1S3 About    
    See pathways by source

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


    Find genes that share SuperPaths with BLOC1S3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for BLOC1S3
        Golgi Associated Vesicle Biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BLOC1S3
    Interactions:

        Search GeneGlobe Interaction Network for BLOC1S3

    Selected Interacting proteins for BLOC1S3 (Q6QNY01, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S2Q6QNY11, 3EBI-465930,EBI-465872 I2D: score=5 
    BLOC1S6Q9UL451, 3EBI-465930,EBI-465781 I2D: score=2 
    DTNBP1Q96EV81, 3EBI-465930,EBI-465804 I2D: score=2 
    BLOC1S1P785373I2D: score=3 
    SNAPINO952953I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IMP16385460
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0007596blood coagulation ----
    GO:0008089anterograde axon cargo transport ISS--
    GO:0030168platelet activation IMP16385460

    Find genes that share ontologies with BLOC1S3           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 BLOC1S3 (BL1S3)



    (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 BLOC1S3 gene: 
    NM_212550.3  

    Unigene Cluster for BLOC1S3:

    Biogenesis of lysosomal organelles complex-1, subunit 3
    Hs.103902  [show with all ESTs]
    Unigene Representative Sequence: NM_212550
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433642(uc002pax.4) ENST00000587722 ENST00000592910 ENST00000588362

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BLOC1S3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate BLOC1S3:
    hsa-miR-4283
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BLOC1S3
    Predesigned siRNA for gene silencing in human, mouse, rat BLOC1S3
    Clone
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    GenScript: all cDNA clones in your preferred vector: BLOC1S3 (NM_212550)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BLOC1S3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BLOC1S3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BLOC1S3
      QuantiTect SYBR Green Assays in human, mouse, rat BLOC1S3
      QuantiFast Probe-based Assays in human, mouse, rat BLOC1S3

    Additional mRNA sequence: 

    AK130151.1 AK130186.1 AK296695.1 AY531266.1 BC151151.1 BC151152.1 

    5 DOTS entries:

    DT.75101484  DT.97836392  DT.207472  DT.75119522  DT.92420260 

    Selected AceView cDNA sequences (see all 62):

    AA436198 AI817656 BF059085 CB142858 BF434644 NM_212550 AI360102 AI828850 
    AI798038 BQ896885 AI917188 AW291673 AY531266 BG260049 BF431122 AI202061 
    AA436323 BU616355 CB132267 BF062383 BF515258 BE672856 AI968875 AW197592 

    GeneLoc Exon Structure


    (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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    BLOC1S3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTCCTTCC
    BLOC1S3 Expression
    About this image

    BLOC1S3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLOC1S3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.103902
        Custom PCR Arrays for BLOC1S3
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    In Situ
    Assay Products:
     

     
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    (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 chordates.

    Orthologs for BLOC1S3 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bloc1s31 , 5 biogenesis of lysosome-related organelles complex-1, more5
    biogenesis of lysosomal organelles complex-1, subunit more1
    82.88(n)1
    91.8(a)1
      7 (9.92 cM)5
    2329461  NM_177692.31  NP_808360.21 
     195058145 
    lizard
    (Anolis carolinensis)
    Reptilia BLOC1S36
    biogenesis of lysosomal organelles complex-1, subu...
    38(a)
    1 ↔ 1
    LGf(3276925-3277494)
    zebrafish
    (Danio rerio)
    Actinopterygii bloc1s36
    biogenesis of lysosomal organelles complex-1, subu...
    34(a)
    1 ↔ 1
    15(34390748-34397547) ENSDARG00000068828


    ENSEMBL Gene Tree for BLOC1S3 (if available)
    TreeFam Gene Tree for BLOC1S3 (if available)

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

    (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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    Selected SNPs for BLOC1S3 (see all 46)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170013341,2
    F--45683552(+) CTAGAG/ATGCAG 1 -- ut311Minor allele frequency- A:0.01EA 120
    rs1425842361,2
    C--45683589(+) TCGACC/GTCCTG 1 -- ut310--------
    rs1820683021,2
    --45683627(+) TTCAAG/TAGTAG 1 -- ut310--------
    rs1156830851,2
    C,F--45683628(+) TCAAGA/TGTAGC 1 -- ut311Minor allele frequency- T:0.09WA 118
    rs1850882201,2
    --45683650(+) ACCTGC/TACCAC 1 -- ut310--------
    rs1899955201,2
    --45683781(+) AAAGTA/GCTGGG 1 -- ut310--------
    rs1830674341,2
    --45683800(+) TGTGAA/GCCACC 1 -- ut310--------
    rs1509597221,2
    --45684025(+) TGTCTC/GCCAGG 1 -- ut310--------
    rs1885986701,2
    --45684088(+) CAAGCG/TATTCT 1 -- ut310--------
    rs1119031601,2
    C--45684109(+) CCTCCC/TGAGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BLOC1S3 (45682003 - 45685059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BLOC1S3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1005203CNV Deletion20482838
    esv2422482CNV Duplication17116639
    nsv833842CNV Loss17160897
    nsv912142CNV Loss21882294
    nsv912144CNV Loss21882294
    nsv912143CNV Loss21882294
    nsv833844CNV Loss17160897
    nsv833843CNV Loss17160897
    esv29928CNV Loss19812545

    Human Gene Mutation Database (HGMD): BLOC1S3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLOC1S3
    DNA2.0 Custom Variant and Variant Library Synthesis for BLOC1S3

    (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: 609762   
    OMIM disorders: 614077  
    UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0
  • Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically
    heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet
    storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic
    organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is
    associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 3 diseases for BLOC1S3:    
    About MalaCards
    hermansky-pudlak syndrome 8    platelet storage pool deficiency    hermansky-pudlak syndrome

    3 diseases from the University of Copenhagen DISEASES database for BLOC1S3:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency

    Find genes that share disorders with BLOC1S3           About GenesLikeMe

    GeneTests: BLOC1S3
    GeneReviews: BLOC1S3
    Genetic Association Database (GAD): BLOC1S3
    Human Genome Epidemiology (HuGE) Navigator: BLOC1S3 (2 documents)

    Export disorders for BLOC1S3 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 BLOC1S3 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with BLOC1S3)
        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. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PubMed id 20460622)1, 4 Seshadri S.... . (JAMA 2010)
    3. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PubMed id 19197348)1, 4 Lowe J.K....Friedman J.M. (PLoS Genet. 2009)
    4. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (PubMed id 17182842)1, 2 Setty S.R.... Marks M.S. (Mol. Biol. Cell 2007)
    5. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). (PubMed id 16385460)1, 2 Morgan N.V....Maher E.R. (Am. J. Hum. Genet. 2006)
    6. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PubMed id 22203680)2 Lee H.H.... Hurley J.H. (J. Biol. Chem. 2012)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 388552 HGNC: 20914 AceView: BLOC1S3 Ensembl:ENSG00000189114 euGenes: HUgn388552
    ECgene: BLOC1S3 H-InvDB: BLOC1S3

    (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 BLOC1S3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BLOC1S3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLOC1S3 gene:
    Search GeneIP for patents involving BLOC1S3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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