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

BLOC1S1 Gene

protein-coding   GIFtS: 54
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)
 Explore 3 diseases affiliated with
BLOC1S1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BLOC1S1    

Aliases
for BLOC1S1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 11 2     MICoA2
GCN5L11 2 3 5     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 12
BLOS11 2 3     BLOC Subunit 12
RT142 3     GCN5 (General Control Of Amino-Acid Synthesis, Yeast, Homolog)-Like 12
BLOC-1 Subunit 12 3     GCN5 General Control Of Amino-Acid Synthesis 5-Like 12
GCN5-Like Protein 12 3     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   
ORGUL members:         
NONCODE:n410513    

Export aliases for BLOC1S1 gene to outside databases

Previous GC identifers: GC12P054397 GC12P054398 GC12P053148


Summaries
for BLOC1S1 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 BLOC1S1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 plasmid: BLOC1S1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BLOC1S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 56,109,820 bp from pter      End:
 56,113,871 bp from pter
Size:
 4,052 bases      Orientation:
 plus strand

Proteins
for BLOC1S1 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: 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
Subcellular location: Mitochondrion intermembrane space. Mitochondrion matrix. Cytoplasm, cytosol
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78537

    • BLOC1S1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001478.2  
    ENSEMBL proteins: 
     ENSP00000447537   ENSP00000450328   ENSP00000446619   ENSP00000448605   ENSP00000448171  
     ENSP00000450218   ENSP00000257899  
    Reactome Protein details: P78537
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: BLOC1S1
    OriGene Protein Over-expression Lysate: BLOC1S1
    OriGene Custom Protein Services for BLOC1S1 
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    Novus Biologicals BLOC1S1 Proteins
    Novus Biologicals BLOC1S1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BLOC1S1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005758mitochondrial intermembrane space IDA--
    GO:0005759mitochondrial matrix IDA--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol IDA--
    GO:0031083BLOC-1 complex IDA--


    BLOC1S1 for ontologies           About GeneDecksing



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    Uscn Antibodies for BLOC1S1
    Search ThermoFisher Antibodies for BLOC1S1

    Assay Products for BLOC1S1: 
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    Uscn ELISAs and CLIAs for BLOC1S1

    Protein Domains /
    Families
    for BLOC1S1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BLOC1S1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009395 GCN5L1

    Graphical View of Domain Structure for InterPro Entry P78537

    ProtoNet protein and cluster: P78537

    1 Blocks protein family: IPB009395 GCN5-like 1

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


    Function
    for BLOC1S1 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: 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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: BLOC1S1
    OriGene siRNA: BLOC1S1
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for BLOC1S1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    BLOC1S1 for ontologies           About GeneDecksing


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

    BLOC1S1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BLOC1S1 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
    		Clathrin derived vesicle budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		trans-Golgi Network Vesicle Budding1.00
    		Lysosome Vesicle Biogenesis0.39
    2Membrane Trafficking
    		Membrane Trafficking1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for BLOC1S1
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding
    Lysosome Vesicle Biogenesis



    BLOC1S1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BLOC1S1

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

    5/38 Interacting proteins for BLOC1S1 (P785371, 2, 3 ENSP000002578994) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBX2P404252, 3, ENSP000003641904MINT-62526 I2D: score=3 STRING: ENSP00000364190
    DTNBP1Q96EV81, 3, ENSP000003416804EBI-348630,EBI-465804 I2D: score=2 STRING: ENSP00000341680
    BLOC1S2Q6QNY11, 3EBI-348630,EBI-465872 I2D: score=4 
    PTNP212462, 3MINT-64010 I2D: score=4 
    BLOC1S6Q9UL451, 3, ENSP000002205314EBI-348630,EBI-465781 I2D: score=3 STRING: ENSP00000220531
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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:0016044cellular membrane organization TAS--
    GO:0018394peptidyl-lysine acetylation IMP--


    BLOC1S1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BLOC1S1 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 BLOC1S1
    Search CenterWatch for drugs/clinical trials and news about BLOC1S1 / BL1S1 

    Transcripts
    for BLOC1S1 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 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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: BLOC1S1
    OriGene siRNA: BLOC1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BLOC1S1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BLOC1S1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BLOC1S1

    Additional cDNA 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 

    24/362 AceView cDNA sequences (see all 362):

    BQ892901 AA314695 H91650 AK096656 AA256871 CB110693 AA554732 CB110130 
    BE857244 BM741085 BM694639 AA355270 CB111336 BQ637101 CB109725 AI668983 
    BM784121 BU783813 BM772436 BI833731 BX113415 AI669536 AV656796 BU731044 

    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

    Expression
    for BLOC1S1 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

    BLOC1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCACCATTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See BLOC1S1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLOC1S1

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

    Orthologs for BLOC1S1 gene from 8/22 species (see all 22)    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, more1, 5 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 --
    		 --
    		 90(a)
    		 1 → many
    		 GL343198.1(1910325-1920949)
    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 60.97(n)
    58.12(a)    		   246439  NM_166060.2  NP_725401.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea CELE_T20G5.101 Protein T20G5.10 53.89(n)
    51.67(a)    		   176435  NM_066861.2  NP_499262.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BLOS16
    		 biogenesis of lysosome-related organelles complex ...
    		 26(a)
    		 1 → many
    		 2(12928767-12929737)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 expressed protein
    (see all 3)    		 27(a)
    25(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 11(572470-573727)
    12(615624-616637)


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

    Paralogs
    for BLOC1S1 gene

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

    BLOC1S1 for paralogs           About GeneDecksing



    Genomic Variants
    for BLOC1S1 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

    10/97 NCBI SNPs in BLOC1S1 are shown (see all 97)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs171179211,2
    		C,F,H,--53152300(+) CCTCCG/ATTTCT 2 -- us2k112Minor allele frequency- A:0.04NA NS EA 1234
    rs803401471,2
    		F,--53152533(+) TGCCCC/GAAGCT 2 -- us2k11Minor allele frequency- G:0.03NA 120
    rs788149461,2
    		F,--53152634(+) CATGGC/TCTCTC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1827746781,2
    		--56107926(+) GAGGCC/GGAGGC 4 -- us2k10--------
    rs47591891,2
    		C,F,H,--56108025(+) GGCGCA/GGTGGC 4 -- us2k15Minor allele frequency- G:0.33NA 12
    rs340865881,2
    		C--56108141(+) AATAC-/AAAAAA 5 -- us2k12Minor allele frequency- A:0.25NA 4
    rs350463011,2
    		C--56108301(+) GTCTC-/AAAAAA 5 -- us2k11Minor allele frequency- A:0.50NA 2
    rs710748531,2
    		C--56108302(+) AAAAAA/-TACAA 5 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1435278371,2
    		--56108532(+) TATACA/GTATAC 5 -- us2k10--------
    rs1874877291,2
    		--56108557(+) ATATAC/TACGTA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for BLOC1S1 (56109820 - 56113871 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BLOC1S1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for BLOC1S1 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
    BLOC1S1 for disorders           About GeneDecksing

    OMIM gene information: 601444    OMIM disorders: --

    3 diseases for BLOC1S1:    About MalaCards
    platelet storage pool deficiency    hermansky-pudlak syndrome    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for BLOC1S1:
    Hermansky-Pudlak syndrome
    Human Genome Epidemiology (HuGE) Navigator: BLOC1S1 (2 documents)

    Export disorders for BLOC1S1 gene to outside databases

    Publications
    for BLOC1S1 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 BLOC1S1 gene, integrated from 9 sources (see all 30):
    (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. (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. (1996)
    3. Identification of a molecular component of the mitoch ondrial acetyl transferase program; a novel role for GCN5L1. (PubMed id 22309213)1, 2 Scott I....Sack M.N. (2012)
    4. 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. (1995)
    5. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PubMed id 17618940)1, 9 Morris D.W....Corvin A.P. (2008)
    6. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. (PubMed id 22554196)1 Yang Q....Li W. (2012)
    7. Quantitative proteomic and genetic analyses of the sch izophrenia susceptibility factor dysbindin identify novel roles of the biogenesi s of lysosome-related organelles complex 1. (PubMed id 22423091)1 Gokhale A....Faundez V. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Assembly and architecture of biogenesis of lysosome-re lated organelles complex-1 (BLOC-1). (PubMed id 22203680)2 Lee H.H....Hurley J.H. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for BLOC1S1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing BLOC1S1 gene

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

    Other Databases showing BLOC1S1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BLOC1S1 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 BLOC1S1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLOC1S1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for BLOC1S1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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