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BLOC1S5 Gene

protein-coding   GIFtS: 41
GCID: GC06M008014

Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5,...

(Previous name: muted homolog (mouse))
(Previous symbol: MUTED)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted1 2     Muted Homolog (Mouse)1
MUTED1 2 3 5     MU2
Protein Muted Homolog2 3     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 52
BLOC-1 Subunit 52 3     Muted Homolog2
BLOS52 5     

External Ids:    HGNC: 185611   Entrez Gene: 639152   Ensembl: ENSG000001884287   OMIM: 6072895   UniProtKB: Q8TDH93   

Export aliases for BLOC1S5 gene to outside databases


(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 BLOC1S5 Gene:
This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this
complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse
model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results
in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1
(eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin
domain containing 5) gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for BLOC1S5 Gene:
BLOC1S5 (biogenesis of lysosomal organelles complex-1, subunit 5, muted) is a protein-coding gene. An important paralog of this gene is BLOC1S5-TXNDC5.

UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9
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 Wiki entry for BLOC1S5 (MUTED) 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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Regulatory elements:
   Search for regulatory transcription factor binding sites for BLOC1S5
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BLOC1S5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S5


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

Entrez Gene cytogenetic band: 6p25.1-p24.3   Ensembl cytogenetic band:  6p24.3   HGNC cytogenetic band: 6p25.1-p24.3

BLOC1S5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M008014:  view genomic region     (about GC identifiers)

Start:
8,013,800 bp from pter      End:
8,064,647 bp from pter
Size:
50,848 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BLOC1S5

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9 (See protein sequence)
Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 5  
Size: 187 amino acids; 21609 Da
Subunit: Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A (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 BLOC1S6
Sequence caution: Sequence=AAH32438.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAI20106.1; Type=Erroneous gene model prediction; Sequence=CAI21645.1; Type=Erroneous gene model
prediction;
Secondary accessions: B4DVM2 Q0VDJ6 Q0VDJ7 Q5THS1 Q68D56 Q8N5F9 Q9NU16
Alternative splicing: 3 isoforms:  Q8TDH9-1   Q8TDH9-2   Q8TDH9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BLOC1S5: NX_Q8TDH9

Explore proteomics data for BLOC1S5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BLOC1S5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186251.1  NP_001186252.1  NP_958437.1  

    ENSEMBL proteins: 
     ENSP00000380598   ENSP00000244777   ENSP00000445215  

    BLOC1S5 Human Recombinant Protein Products:

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    antibodies-online peptides for BLOC1S5

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

    1 InterPro protein domain:
     IPR017243 Bloc1s5

    Graphical View of Domain Structure for InterPro Entry Q8TDH9

    ProtoNet protein and cluster: Q8TDH9

    UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9
    Similarity: Belongs to the BLOC1S5 family


    Find genes that share domains with BLOC1S5           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: BL1S5_HUMAN, Q8TDH9
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12019270
         
    Find genes that share ontologies with BLOC1S5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BLOC1S5:
     Decreased viability of wild-ty 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Bloc1s5):
     behavior/neurological  cellular  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  no phenotypic analysis  pigmentation  renal/urinary system 
     vision/eye 

    Find genes that share phenotypes with BLOC1S5           About GenesLikeMe

    Animal Models:
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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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    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030133transport vesicle IDA17182842
    GO:0031083BLOC-1 complex IDA15102850

    Find genes that share ontologies with BLOC1S5           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 BLOC1S5 About    
    See pathways by source

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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BLOC1S5
    Interactions:

        Search GeneGlobe Interaction Network for BLOC1S5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for BLOC1S5 (Q8TDH91, 3 ENSP000003805984) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTNBP1Q96EV81, 3, ENSP000003416804EBI-465861,EBI-465804 I2D: score=4 STRING: ENSP00000341680
    BLOC1S6Q9UL451, 3, ENSP000002205314EBI-465861,EBI-465781 I2D: score=2 STRING: ENSP00000220531
    BLOC1S2Q6QNY11, 3EBI-465861,EBI-465872 I2D: score=4 
    BLOC1S4Q9NUP13, ENSP000003181284I2D: score=3 STRING: ENSP00000318128
    SNAPINO952953, ENSP000003576744I2D: score=1 STRING: ENSP00000357674
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008089anterograde axon cargo transport ISS--
    GO:0031175neuron projection development ISS--
    GO:0032402melanosome transport IDA17182842
    GO:0032438melanosome organization NAS--
    GO:0032474otolith morphogenesis ----

    Find genes that share ontologies with BLOC1S5           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
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    Browse Tocris compounds for BLOC1S5 (BL1S5)



    (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 BLOC1S5 gene (3 alternative transcripts): 
    NM_001199322.1  NM_001199323.1  NM_201280.2  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397457(uc010job.3 uc010joc.3 uc003mxy.3 uc021ylf.1 uc021ylg.1)
    ENST00000244777 ENST00000475998 ENST00000486432 ENST00000543936
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    Selected AceView cDNA sequences (see all 1254):

    BM799317 AI167772 CB120511 AA262168 AA022850 BU542202 BQ773952 AI217594 
    CA430485 BU859611 BU190522 CA431793 BQ682284 BQ030081 BM782317 BE019776 
    BI333289 BQ943586 AA453555 BQ680246 AI339273 BM769537 BM423818 AI376877 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S5 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
    SP1:                                      -     -     -           -                                   -                                 
    SP2:                                                              -                                   -                                 
    SP3:                                                                                                                                    
    SP4:                    -                                                                                                               
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for BLOC1S5

    (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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    BLOC1S5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BLOC1S5 Expression
    About this image

    BLOC1S5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLOC1S5 Protein Expression
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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 BLOC1S5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bloc1s51 , 5 muted5
    biogenesis of lysosomal organelles complex-1, subunit more1
    79.64(n)1
    77.3(a)1
      13 (18.35 cM)5
    178281  NM_139063.11  NP_620702.11 
     386027095 
    chicken
    (Gallus gallus)
    Aves BLOC1S51 muted homolog (mouse) 67.74(n)
    60.96(a)
      420866  NM_001006373.1  NP_001006373.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    1 → many
    GL343209.1(968989-979502)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bloc1s51 biogenesis of lysosomal organelles complex-1, subunit more 61.69(n)
    61.33(a)
      100101667  NM_001113668.1  NP_001107140.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bloc1s51 biogenesis of lysosomal organelles complex-1, subunit more 59.82(n)
    54.97(a)
      324781  NM_001030066.1  NP_001025237.1 


    ENSEMBL Gene Tree for BLOC1S5 (if available)
    TreeFam Gene Tree for BLOC1S5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLOC1S5 gene
    BLOC1S5-TXNDC52  
    1 SIMAP similar gene for BLOC1S5 using alignment to 2 protein entries:     BL1S5_HUMAN (see all proteins):
    BLOC1S5-TXNDC5

    Find genes that share paralogs with BLOC1S5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607289    OMIM disorders: --


    Find genes that share disorders with BLOC1S5           About GenesLikeMe


    Export disorders for BLOC1S5 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 BLOC1S5 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with BLOC1S5)
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    1. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. (PubMed id 11912185)1, 2, 3 Zhang Q.... Swank R.T. (Hum. Mol. Genet. 2002)
    2. 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)
    3. 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)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PubMed id 12191018)1, 2 Moriyama K. and Bonifacino J.S. (Traffic 2002)
    6. 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)
    7. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PubMed id 17618940)1, 9 Morris D.W....Corvin A.P. (Biol. Psychiatry 2008)
    8. 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)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. 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)

    (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: 63915 HGNC: 18561 AceView: EEF1E1 Ensembl:ENSG00000188428 euGenes: HUgn63915
    ECgene: BLOC1S5 H-InvDB: BLOC1S5

    (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 BLOC1S5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLOC1S5 gene:
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    GeneCards and IP:
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