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Aliases for BLOC1S6 Gene

Aliases for BLOC1S6 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6 2 3
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 6, Pallidin 3 5
  • Pallid Protein Homolog 3 4
  • BLOC-1 Subunit 6 3 4
  • PLDN 3 4
  • PA 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Pallidin 3
  • Syntaxin 13-Interacting Protein Pallid 3
  • Pallid (Mouse) Homolog, Pallidin 2
  • Syntaxin 13-Interacting Protein 4
  • Syntaxin 13 Binding Protein 1 3
  • Pallidin Homolog (Mouse) 2
  • Pallidin 4
  • PALLID 3
  • BLOS6 3
  • HPS9 3

External Ids for BLOC1S6 Gene

Previous HGNC Symbols for BLOC1S6 Gene

  • PA
  • PLDN

Previous GeneCards Identifiers for BLOC1S6 Gene

  • GC15P045881
  • GC15P045883

Summaries for BLOC1S6 Gene

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. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]

GeneCards Summary for BLOC1S6 Gene

BLOC1S6 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6) is a Protein Coding gene. Diseases associated with BLOC1S6 include hermansky-pudlak syndrome 9 and platelet storage pool deficiency. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include protein homodimerization activity and actin filament binding.

UniProtKB/Swiss-Prot for BLOC1S6 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S6 Gene

Genomics for BLOC1S6 Gene

Regulatory Elements for BLOC1S6 Gene

Promoters for BLOC1S6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BLOC1S6 on UCSC Golden Path with GeneCards custom track

Genomic Location for BLOC1S6 Gene

Chromosome:
15
Start:
45,587,123 bp from pter
End:
45,615,999 bp from pter
Size:
28,877 bases
Orientation:
Plus strand

Genomic View for BLOC1S6 Gene

Genes around BLOC1S6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S6 Gene

Proteins for BLOC1S6 Gene

  • Protein details for BLOC1S6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL45-BL1S6_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 6
    Protein Accession:
    Q9UL45

    Protein attributes for BLOC1S6 Gene

    Size:
    172 amino acids
    Molecular mass:
    19744 Da
    Quaternary structure:
    • 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 splice isoforms for BLOC1S6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLOC1S6 Gene

Proteomics data for BLOC1S6 Gene at MOPED

Post-translational modifications for BLOC1S6 Gene

Antibody Products

No data available for DME Specific Peptides for BLOC1S6 Gene

Domains & Families for BLOC1S6 Gene

Gene Families for BLOC1S6 Gene

Protein Domains for BLOC1S6 Gene

Suggested Antigen Peptide Sequences for BLOC1S6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UL45

UniProtKB/Swiss-Prot:

BL1S6_HUMAN :
  • Belongs to the BLOC1S6 family.
Family:
  • Belongs to the BLOC1S6 family.
genes like me logo Genes that share domains with BLOC1S6: view

Function for BLOC1S6 Gene

Molecular function for BLOC1S6 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BLOC1S6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IDA 12019270
genes like me logo Genes that share ontologies with BLOC1S6: view
genes like me logo Genes that share phenotypes with BLOC1S6: view

Human Phenotype Ontology for BLOC1S6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BLOC1S6 Gene

Localization for BLOC1S6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S6 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=It can exist as a soluble protein as well as a peripheral membrane protein (PubMed:12019270). {ECO:0000269 PubMed:12019270}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLOC1S6 Gene COMPARTMENTS Subcellular localization image for BLOC1S6 gene
Compartment Confidence
cytosol 5
nucleus 5
endosome 3
plasma membrane 3
cytoskeleton 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for BLOC1S6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12019270
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:1904115 axon cytoplasm ISS --
genes like me logo Genes that share ontologies with BLOC1S6: view

Pathways & Interactions for BLOC1S6 Gene

genes like me logo Genes that share pathways with BLOC1S6: view

Gene Ontology (GO) - Biological Process for BLOC1S6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008089 anterograde axonal transport ISS --
GO:0016081 synaptic vesicle docking NAS 10610180
GO:0031175 neuron projection development ISS --
GO:0032402 melanosome transport IDA 17182842
GO:0032438 melanosome organization NAS 22203680
genes like me logo Genes that share ontologies with BLOC1S6: view

No data available for SIGNOR curated interactions for BLOC1S6 Gene

Drugs & Compounds for BLOC1S6 Gene

No Compound Related Data Available

Transcripts for BLOC1S6 Gene

Unigene Clusters for BLOC1S6 Gene

Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S6 Gene

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: - - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - - -
SP11:

Relevant External Links for BLOC1S6 Gene

GeneLoc Exon Structure for
BLOC1S6
ECgene alternative splicing isoforms for
BLOC1S6

Expression for BLOC1S6 Gene

mRNA expression in normal human tissues for BLOC1S6 Gene

Protein differential expression in normal tissues from HIPED for BLOC1S6 Gene

This gene is overexpressed in Blymphocyte (15.9), CD8 Tcells (13.5), and Salivary gland (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BLOC1S6 Gene



SOURCE GeneReport for Unigene cluster for BLOC1S6 Gene Hs.7037

mRNA Expression by UniProt/SwissProt for BLOC1S6 Gene

Q9UL45-BL1S6_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with BLOC1S6: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for BLOC1S6 Gene

Orthologs for BLOC1S6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLOC1S6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BLOC1S6 35
  • 94.15 (n)
  • 94.15 (a)
BLOC1S6 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC478288 35
  • 92.98 (n)
  • 92.98 (a)
BLOC1S6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bloc1s6 35
  • 82.46 (n)
  • 87.13 (a)
Bloc1s6 16
Bloc1s6 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S6 35
  • 99.81 (n)
  • 100 (a)
BLOC1S6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bloc1s6 35
  • 81.29 (n)
  • 86.55 (a)
oppossum
(Monodelphis domestica)
Mammalia BLOC1S6 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S6 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLDN 35
  • 78.01 (n)
  • 82.64 (a)
PLDN 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s6 35
  • 67.92 (n)
  • 75.62 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1448 35
zebrafish
(Danio rerio)
Actinopterygii bloc1s6 35
  • 64.96 (n)
  • 66.67 (a)
bloc1s6 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9434 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for BLOC1S6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLOC1S6 Gene

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

Paralogs for BLOC1S6 Gene

Pseudogenes.org Pseudogenes for BLOC1S6 Gene

genes like me logo Genes that share paralogs with BLOC1S6: view

No data available for Paralogs for BLOC1S6 Gene

Variants for BLOC1S6 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S6 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs13376 -- 45,608,918(+) GTAGA(C/T)AGGCA nc-transcript-variant, utr-variant-3-prime
rs751819 -- 45,588,300(-) TACAA(A/G)GAAGT intron-variant
rs719018 -- 45,592,328(+) AGTCA(C/T)AATTT intron-variant
rs719019 -- 45,592,481(+) GTGTT(C/T)GATCT intron-variant
rs1442797 -- 45,592,656(-) TGAAC(C/T)AGCAA intron-variant

Variation tolerance for BLOC1S6 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLOC1S6 Gene

HapMap Linkage Disequilibrium report
BLOC1S6
Human Gene Mutation Database (HGMD)
BLOC1S6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BLOC1S6 Gene

Disorders for BLOC1S6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BLOC1S6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 9
  • platelet storage pool deficiency
platelet storage pool deficiency
  • dense body defect
hermansky-pudlak syndrome
  • hps
hereditary spherocytosis
  • spherocytosis, type 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BL1S6_HUMAN
  • 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. {ECO:0000269 PubMed:21665000}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BLOC1S6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLOC1S6
genes like me logo Genes that share disorders with BLOC1S6: view

No data available for Genatlas for BLOC1S6 Gene

Publications for BLOC1S6 Gene

  1. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (PMID: 10610180) Huang L. … Gitschier J. (Nat. Genet. 1999) 2 3 4 67
  2. 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). (PMID: 15102850) Starcevic M. … Dell'Angelica E.C. (J. Biol. Chem. 2004) 3 23
  3. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (PMID: 12576321) Ciciotte S.L. … Peters L.L. (Blood 2003) 3 23
  4. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. (PMID: 11936273) Falcon-Perez J.M. … Dell'Angelica E.C. (Pigment Cell Res. 2002) 3 23
  5. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PMID: 12191018) Moriyama K. … Bonifacino J.S. (Traffic 2002) 3 23

Products for BLOC1S6 Gene

Sources for BLOC1S6 Gene

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