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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLOC1S6 Gene

protein-coding   GIFtS: 50
GCID: GC15P045881

biogenesis of lysosomal organelles complex-1, subunit 6,...

(Previous names: pallid (mouse) homolog, pallidin, pallidin homolog (mouse)...)
(Previous symbols: PA, PLDN)
 Explore 9 diseases affiliated with
BLOC1S6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BLOC1S6    

Aliases
for BLOC1S6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 6, Pallidin1 2     PALLID2
PA1 2 3 5     Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Pallidin2
PLDN1 2 3 5     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 62
Pallid Protein Homolog2 3     Syntaxin 13 Binding Protein 12
BLOC-1 Subunit 62 3     Syntaxin 13-Interacting Protein Pallid2
Pallid (Mouse) Homolog, Pallidin1     Pallidin3
Pallidin Homolog (Mouse)1     Syntaxin 13-Interacting Protein3
HPS92     

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

Export aliases for BLOC1S6 gene to outside databases


Summaries
for BLOC1S6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BLOC1S6:
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)

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)


Genomic Views
for BLOC1S6 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BLOC1S6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BLOC1S6 promoter sequence
   Search SABiosciences Chromatin IP Primers for BLOC1S6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC15P045881:  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

Proteins
for BLOC1S6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Endomembrane system; Peripheral membrane protein. Note=It can exist as a soluble
protein as well as a peripheral membrane protein
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

Post-translational modifications:

  • Phosphorylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UL45

    • BLOC1S6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals BLOC1S6 Proteins
    Novus Biologicals BLOC1S6 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for BLOC1S6
    Uscn Proteins for BLOC1S6

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12019270
    GO:0005768endosome IEA--
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system IEA--
    GO:0016020membrane ----


    BLOC1S6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BLOC1S6

    Protein Domains /
    Families
    for BLOC1S6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BLOC1S6 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR017242 BLOC-1_complex_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


    Function
    for BLOC1S6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019905syntaxin binding TAS10610180
    GO:0042802identical protein binding IPI16189514
    GO:0042803protein homodimerization activity IPI12019270
    GO:0051015actin filament binding IDA12019270


    BLOC1S6 for ontologies           About GeneDecksing


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

    Animal Models:
         15/19 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bloc1s6) (see all 19):
     behavior/neurological  cardiovascular system  cellular  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  other  pigmentation 

    BLOC1S6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BLOC1S6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin derived vesicle budding
    		trans-Golgi Network Vesicle Budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		Clathrin derived vesicle budding1.00
    2Membrane Trafficking
    		Membrane Trafficking1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for BLOC1S6
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    BLOC1S6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BLOC1S6

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

    5/41 Interacting proteins for BLOC1S6 (Q9UL451, 2, 3 ENSP000002205314) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    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): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006944cellular membrane fusion IEA--
    GO:0007596blood coagulation IEA--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0016044cellular membrane organization TAS--


    BLOC1S6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BLOC1S6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BLOC1S6
    Search CenterWatch for drugs/clinical trials and news about BLOC1S6 / BL1S6 

    Transcripts
    for BLOC1S6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BLOC1S6 gene: 
    NM_012388.2  

    Unigene Cluster for BLOC1S6:

    Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
    Hs.743980  [show with all ESTs]
    Unigene Representative Sequence: AK128626
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    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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    Inhib. RNA
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    Additional cDNA 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.91948644  DT.95174150  DT.95227118 
    DT.100790437  DT.97783586  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 

    24/663 AceView cDNA sequences (see all 663):

    BE018093 CR613954 AA664347 AA486172 AI332722 AI095921 AK128626 AA669130 
    BQ632599 CN482541 W61293 BM980065 N42820 CR619347 AA643688 AI798420 
    BM990487 BI906763 BQ051209 CA430512 N53954 BQ688844 AI673731 BI256286 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for BLOC1S6 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section
    		 See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    See BLOC1S6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLOC1S6

    SOURCE GeneReport for Unigene cluster: Hs.743980

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

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    In Situ
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    Orthologs
    for BLOC1S6 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for BLOC1S6 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Bloc1s61 , 5 pallidin5
    biogenesis of organelles complex-1, subunit 6, pallidin1    		 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) 77.78(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 65.03(n)
    69.67(a)    		   791215  NM_001080697.1  NP_001074166.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta pallidin6
    		 pallidin
    		 22(a)
    		 1 ↔ 1
    		 3L(11682731-11684499)


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

    Paralogs
    for BLOC1S6 gene

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

    BLOC1S6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BLOC1S6
    PGOHUM00000241206


    Genomic Variants
    for BLOC1S6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/313 NCBI SNPs in BLOC1S6 are shown (see all 313)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1146655191,2
    		C,F,--22701557(+) TTCATG/AAGATC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1158574791,2
    		C,F,--22702089(+) CTCTCG/AAGCGC 1 -- ut511Minor allele frequency- A:0.05WA 118
    rs23048981,2
    		C,F,H,--22702122(-) GACGGG/AGGCGA 1 -- ut51 ese37Minor allele frequency- A:0.01NS EA NA 750
    rs754156431,2
    		--22702668(+) TAATTA/CAGAGA 1 -- int10--------
    rs43181521,2
    		H--22702967(+) TATGCT/GTTTTC 1 -- int1 trp34Minor allele frequency- G:0.00NS EA 420
    rs7518191,2
    		C,F,A,H,--22703098(-) TACAAA/GGAAGT 1 -- int124Minor allele frequency- G:0.22NA EA NS WA CSA 1804
    rs765498081,2
    		--22704987(+) TCTCTA/CTCTCT 1 -- int10--------
    rs763014181,2
    		F--22705396(+) GAGACG/AGGGTT 1 -- int12Minor allele frequency- A:0.50NA 4
    rs734204271,2
    		C,F,--22705722(+) TTTTTC/TCTCTG 1 -- int13Minor allele frequency- T:0.49WA CSA 122
    rs757924641,2
    		C,F,--22705911(+) TTTATA/GCACAA 1 -- int11Minor allele frequency- G:0.03NA 120

    HapMap Linkage Disequilibrium report for BLOC1S6 (45879321 - 45908197 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BLOC1S6: --
    Human Gene Mutation Database (HGMD): BLOC1S6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLOC1S6
    DNA2.0 Custom Variant and Variant Library Synthesis for BLOC1S6

    Disorders / Diseases
    for BLOC1S6 gene

    (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.)
    About This Section
    BLOC1S6 for disorders           About GeneDecksing

    OMIM gene information: 604310    OMIM disorders: --

    UniProtKB/Swiss-Prot: BL1S6_HUMAN, Q9UL45
  • Defects in BLOC1S6 are the cause of Hermansky-Pudlak syndrome type 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

    9 diseases for BLOC1S6:    About MalaCards
    hermansky-pudlak syndrome    platelet storage pool deficiency    hereditary spherocytosis    oculocutaneous albinism
    spherocytosis    pulmonary fibrosis    albinism    fibrosis
    schizophrenia


    Export disorders for BLOC1S6 gene to outside databases

    Publications
    for BLOC1S6 gene

    (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)
    About This Section

    PubMed articles for BLOC1S6 gene, integrated from 9 sources (see all 40):
    (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. (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. (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. (2002)
    4. The dysbindin-containing complex (BLOC-1) in brain: d evelopmental regulation, interaction with SNARE proteins and role in neurite ou tgrowth. (PubMed id 19546860)1, 2 Ghiani C.A....Dell'Angelica E.C. (2010)
    5. BLOC-1 is required for cargo-specific sorting from va cuolar early endosomes toward lysosome-related organelles. (PubMed id 17182842)1, 2 Setty S.R....Marks M.S. (2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (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. (2004)

    External Searches for BLOC1S6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing BLOC1S6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26258 HGNC: 8549 AceView: PLDNandSQRDL Ensembl:ENSG00000104164 euGenes: HUgn26258
    ECgene: BLOC1S6 H-InvDB: BLOC1S6

    Other Databases showing BLOC1S6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BLOC1S6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BLOC1S6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BLOC1S6 gene

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

    GeneCards and IP:
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