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BLOC1S6 Gene

protein-coding   GIFtS: 48
GCID: GC15P045883

Biogenesis Of Lysosomal Organelles Complex-1, Subunit 6,...

(Previous names: pallid (mouse) homolog, pallidin, pallidin homolog (mouse))
(Previous symbols: PA, PLDN)
  See BLOC1S6-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 6, Pallidin1 2     Pallidin Homolog (Mouse)1
PA1 2 3 5     PALLID2
PLDN1 2 3 5     Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Pallidin2
Pallid Protein Homolog2 3     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 62
BLOC-1 Subunit 62 3     Syntaxin 13 Binding Protein 12
BLOS62 5     Syntaxin 13-Interacting Protein Pallid2
HPS92 5     Pallidin3
Pallid (Mouse) Homolog, Pallidin1     Syntaxin 13-Interacting Protein3

External Ids:    HGNC: 85491   Entrez Gene: 262582   Ensembl: ENSG000001041647   OMIM: 6043105   UniProtKB: Q9UL453   

Export aliases for BLOC1S6 gene to outside databases

Previous GC identifer: GC15P045881


(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 BLOC1S6 Gene:
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin
13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene
have been described, but the full-length nature of some of these variants has not been determined. (provided by
RefSeq, Jul 2008)

GeneCards Summary for BLOC1S6 Gene:
BLOC1S6 (biogenesis of lysosomal organelles complex-1, subunit 6, pallidin) is a protein-coding gene. Diseases associated with BLOC1S6 include hermansky-pudlak syndrome 9, and platelet storage pool deficiency. GO annotations related to this gene include actin filament binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: BL1S6_HUMAN, Q9UL45
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 play a role in intracellular vesicle trafficking, particularly in the
vesicle-docking and fusion process

Gene Wiki entry for BLOC1S6 (PLDN) 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_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BLOC1S6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLOC1S6 promoter sequence
   Search Chromatin IP Primers for BLOC1S6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S6


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

BLOC1S6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S6 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045883:  view genomic region     (about GC identifiers)

Start:
45,879,321 bp from pter      End:
45,908,197 bp from pter
Size:
28,877 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: BL1S6_HUMAN, Q9UL45 (See protein sequence)
Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 6  
Size: 172 amino acids; 19744 Da
Subunit: Interacts with BLOC1S4 and DTNBP1/BLOC1S7 (By similarity). Homodimer. 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 BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12
Alternative splicing: 3 isoforms:  Q9UL45-1   Q9UL45-2   Q9UL45-3   (May be due to exons 2 and 3 skipping. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BLOC1S6: NX_Q9UL45

Explore proteomics data for BLOC1S6 at MOPED

Post-translational modifications: 

  • Phosphorylated1
  • Modification sites at neXtProt

  • See BLOC1S6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036520.1  
    ENSEMBL proteins: 
     ENSP00000220531   ENSP00000456152   ENSP00000457077   ENSP00000454438   ENSP00000454803  
     ENSP00000457478   ENSP00000454638   ENSP00000456624   ENSP00000456067   ENSP00000454715  
     ENSP00000455021   ENSP00000456851   ENSP00000455599   ENSP00000454537   ENSP00000455439  
    Reactome Protein details: Q9UL45

    BLOC1S6 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

    2 InterPro protein domains:
     IPR028119 Snapin/Pallidin/Snn1
     IPR017242 BLOC-1_pallidin

    Graphical View of Domain Structure for InterPro Entry Q9UL45

    ProtoNet protein and cluster: Q9UL45

    UniProtKB/Swiss-Prot: BL1S6_HUMAN, Q9UL45
    Similarity: Belongs to the BLOC1S6 family


    Find genes that share domains with BLOC1S6           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: BL1S6_HUMAN, Q9UL45
    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 play a role in intracellular vesicle trafficking, particularly in the
    vesicle-docking and fusion process

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12191018
    GO:0019905syntaxin binding TAS10610180
    GO:0042802identical protein binding IPI15102850
    GO:0042803protein homodimerization activity IPI12019270
    GO:0051015actin filament binding IDA12019270
         
    Find genes that share ontologies with BLOC1S6           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for BLOC1S6:
     Decreased cilium length  Decreased cilium length after  

         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Bloc1s6) (see all 19):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  other  pigmentation 

    Find genes that share phenotypes with BLOC1S6           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLOC1S6
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    miRNA
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    miRTarBase miRNAs that target BLOC1S6:
    hsa-mir-30b-5p (MIRT023412), hsa-mir-124-3p (MIRT002614), hsa-mir-3176 (MIRT052798), hsa-mir-484 (MIRT042100), hsa-mir-101-3p (MIRT027360)

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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
    BL1S6_HUMAN, Q9UL45: Cytoplasm. Endomembrane system; Peripheral membrane protein. Note=It can exist as a soluble
    protein as well as a peripheral membrane protein

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12019270
    GO:0005768endosome IEA--
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system ----
    GO:0019898extrinsic component of membrane IDA12019270

    Find genes that share ontologies with BLOC1S6           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 BLOC1S6 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 BLOC1S6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for BLOC1S6
        Golgi Associated Vesicle Biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BLOC1S6
    Interactions:

        Search GeneGlobe Interaction Network for BLOC1S6

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

    Selected Interacting proteins for BLOC1S6 (Q9UL451, 2, 3 ENSP000002205314) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPS8Q129292, 3, ENSP000002811724MINT-66205 I2D: score=5 STRING: ENSP00000281172
    DTNBP1Q96EV81, 3, ENSP000003416804EBI-465781,EBI-465804 I2D: score=4 STRING: ENSP00000341680
    EXOC8Q8IYI62, 3, ENSP000003535644MINT-67166 I2D: score=4 STRING: ENSP00000353564
    BLOC1S2Q6QNY11, 3EBI-465781,EBI-465872 I2D: score=3 
    BLOC1S3Q6QNY01, 3EBI-465781,EBI-465930 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0007596blood coagulation IEA--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0016081synaptic vesicle docking involved in exocytosis NAS10610180
    GO:0030318melanocyte differentiation IEA--

    Find genes that share ontologies with BLOC1S6           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 BLOC1S6 (BL1S6)



    (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 BLOC1S6 gene: 
    NM_012388.2  

    Unigene Cluster for BLOC1S6:

    Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
    Hs.7037  [show with all ESTs]
    Unigene Representative Sequence: AK128626
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000220531(uc001zvq.3 uc001zvr.3) ENST00000567740 ENST00000567461
    ENST00000562384 ENST00000568963 ENST00000569076 ENST00000566753 ENST00000568597
    ENST00000566184 ENST00000567523 ENST00000565216 ENST00000563000 ENST00000566801
    ENST00000568816(uc001zvs.3) ENST00000565323 ENST00000563160 ENST00000565727
    ENST00000565409
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    Additional mRNA sequence: 

    AF080470.1 AF131859.1 AK057545.1 AK091740.1 AK128626.1 AK315581.1 BC004819.1 BC026289.1 

    23 DOTS entries:

    DT.108539  DT.100790441  DT.101966146  DT.95174153  DT.101967768  DT.97783586  DT.91948644  DT.95174150 
    DT.95227118  DT.100790437  DT.121034984  DT.92471362  DT.121035050  DT.99932984  DT.95174154  DT.100790439 
    DT.121035020  DT.121035046  DT.92471456  DT.97792629  DT.121035027  DT.40288015  DT.95302144 

    Selected AceView cDNA sequences (see all 663):

    CA448667 AA281439 BM707938 AL705584 BQ084126 CR613954 AF080470 BQ632306 
    BU617088 AI831397 BX479643 BM988907 BQ897089 AA643646 AA643688 BQ685734 
    BP340603 CA943577 BU676976 CA307620 AL041648 BU187222 CA307600 BU753504 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S6 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
    SP1:                          -     -     -     -     -           -     -                                                   
    SP2:                          -     -     -     -     -           -     -                                                   
    SP3:                                                  -           -     -                                                   
    SP4:                          -     -     -     -     -     -     -     -                                                   
    SP5:                          -     -     -     -     -           -     -     -                                             


    ECgene alternative splicing isoforms for BLOC1S6

    (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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    BLOC1S6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BLOC1S6 Expression
    About this image

    BLOC1S6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLOC1S6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7037

    UniProtKB/Swiss-Prot: BL1S6_HUMAN, Q9UL45
    Tissue specificity: Widely expressed

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    In Situ
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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 BLOC1S6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bloc1s61 , 5 pallidin5
    biogenesis of lysosomal organelles complex-1, subunit more1
    82.46(n)1
    87.13(a)1
      2 (60.66 cM)5
    184571  NM_019788.31  NP_062762.11 
     1227385035 
    chicken
    (Gallus gallus)
    Aves PLDN1 pallidin homolog (mouse) 78.01(n)
    82.64(a)
      415447  NM_001007825.1  NP_001007826.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.14482 Xenopus laevis transcribed sequence with moderate similarity more 75.78(n)    BI675325.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bloc1s61 biogenesis of lysosomal organelles complex-1, subunit more 64.96(n)
    66.67(a)
      791215  NM_001080697.1  NP_001074166.1 


    ENSEMBL Gene Tree for BLOC1S6 (if available)
    TreeFam Gene Tree for BLOC1S6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLOC1S6 gene

    Find genes that share paralogs with BLOC1S6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BLOC1S6
    PGOHUM00000241206


    (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 BLOC1S6 (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013484821,2
    Cpathogenic125962425(-) AACTTG/AGTTCT 2 /Q /* stg11Minor allele frequency- A:0.00EU 1317
    rs1385806781,2
    C--22716667(+) TTTAT-/TTAT  
            
    ATTTG
    1 -- int10--------
    rs1145784831,2
    C,F--25944536(+) GCCACT/AGTCCC 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1860476161,2
    --25944559(+) AGGTTC/TTATTA 1 -- us2k10--------
    rs1380869251,2
    --25944580(+) GCCTCA/TGGTAG 1 -- us2k10--------
    rs1920739731,2
    --25944599(+) TCAGAC/TCTAAA 1 -- us2k10--------
    rs612091641,2
    C,F--25944666(+) CAGGGC/TTTTTC 1 -- us2k15Minor allele frequency- T:0.14NA WA EA 362
    rs1495477121,2
    --25944799(+) GCTATA/CCTAGA 1 -- us2k10--------
    rs1471367661,2
    --25944934(+) ATGAGC/GCATGT 1 -- us2k10--------
    rs1386858841,2
    --25945058(+) TCCATC/TAGTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BLOC1S6 (45879321 - 45908197 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BLOC1S6: --
    Human Gene Mutation Database (HGMD): BLOC1S6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLOC1S6
    DNA2.0 Custom Variant and Variant Library Synthesis for BLOC1S6

    (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: 604310   
    OMIM disorders: 614171  
    UniProtKB/Swiss-Prot: BL1S6_HUMAN, Q9UL45
  • Hermansky-Pudlak syndrome 9 (HPS9) [MIM:614171]: 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

  • 2 diseases for BLOC1S6:    
    About MalaCards
    hermansky-pudlak syndrome 9    platelet storage pool deficiency


    Find genes that share disorders with BLOC1S6           About GenesLikeMe


    Export disorders for BLOC1S6 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 BLOC1S6 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with BLOC1S6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (PubMed id 10610180)1, 2, 3 Huang L.... Gitschier J. (Nat. Genet. 1999)
    2. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PubMed id 12191018)1, 2, 9 Moriyama K. and Bonifacino J.S. (Traffic 2002)
    3. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. (PubMed id 11936273)1, 2, 9 Falcon-Perez J.M. and Dell'Angelica E.C. (Pigment Cell Res. 2002)
    4. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. (PubMed id 19546860)1, 2 Ghiani C.A....Dell'Angelica E.C. (Mol. Psychiatry 2010)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. (PubMed id 12019270)1, 2 Falcon-Perez J.M.... Dell'Angelica E.C. (J. Biol. Chem. 2002)
    9. Role of N-myristylation in targeting of band 4.2 (pallidin) in nonerythroid cells. (PubMed id 8986625)1, 9 Risinger M.A....Cohen C.M. (Exp. Cell Res. 1996)
    10. 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, 9 Starcevic M. and Dell'Angelica E.C. (J. Biol. Chem. 2004)

    (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: 26258 HGNC: 8549 AceView: PLDNandSQRDL Ensembl:ENSG00000104164 euGenes: HUgn26258
    ECgene: BLOC1S6 H-InvDB: BLOC1S6

    (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 BLOC1S6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLOC1S6 gene:
    Search GeneIP for patents involving BLOC1S6

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



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