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Aliases for BLOC1S6 Gene

Aliases for BLOC1S6 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6 2 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
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 6, Pallidin 3
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 6 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 Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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

Additional gene information for BLOC1S6 Gene

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

Genomics for BLOC1S6 Gene

Regulatory Elements for BLOC1S6 Gene

Enhancers for BLOC1S6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H045636 1.7 FANTOM5 ENCODE dbSUPER 14.1 +52.8 52801 6 PKNOX1 FOXA2 ARID4B FEZF1 DMAP1 YY1 ZNF766 FOS REST MIER2 C15orf48 SQOR BLOC1S6 ENSG00000259539 LOC100533853 SPATA5L1 SHF GC15P045696
GH15H045583 1.3 FANTOM5 ENCODE 15.8 -3.1 -3051 1 PKNOX1 ATF1 NFRKB ZNF766 GATA2 ELK1 ATF7 CAVIN1 ZBTB11 CEBPB BLOC1S6 ENSG00000259539 SQOR C15orf48 ENSG00000275709 DPPA5P2
GH15H045634 1.3 ENCODE dbSUPER 11.9 +48.2 48220 2 HDGF FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 BLOC1S6 SQOR ENSG00000259539 GC15P045696
GH15H045454 1.7 FANTOM5 ENCODE dbSUPER 6.3 -130.6 -130635 4 ATF1 ARNT SIN3A FEZF1 GLI4 BRCA1 ZNF143 ZNF207 ATF7 FOS C15orf48 LOC100533853 SPATA5L1 MIR147B SLC30A4 SQOR BLOC1S6 GC15P045452 GC15M045480
GH15H045521 0.9 ENCODE 10.8 -64.6 -64636 2 ELF3 FOXA2 RB1 SIN3A ZEB1 RARA YY1 ZNF143 SMARCA5 ZBTB11 EIF3J-AS1 BLOC1S6 SLC30A4 HMGN2P46
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BLOC1S6 on UCSC Golden Path with GeneCards custom track

Promoters for BLOC1S6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076048 377 2201 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

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

Post-translational modifications for BLOC1S6 Gene

No data available for DME Specific Peptides for BLOC1S6 Gene

Domains & Families for BLOC1S6 Gene

Gene Families for BLOC1S6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for BLOC1S6 Gene

Gene Ontology (GO) - Molecular Function for BLOC1S6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12191018
GO:0019905 syntaxin binding TAS 10610180
GO:0042802 identical protein binding IPI 15102850
GO:0042803 protein homodimerization activity IPI 12019270
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BLOC1S6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLOC1S6 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
cytoskeleton 2
lysosome 2
endosome 1

Gene Ontology (GO) - Cellular Components for BLOC1S6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12019270
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IDA 12019270
genes like me logo Genes that share ontologies with BLOC1S6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BLOC1S6 Gene

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:0007596 blood coagulation IEA --
GO:0008089 anterograde axonal transport ISS,IEA --
GO:0016081 synaptic vesicle docking NAS 10610180
GO:0030318 melanocyte differentiation IEA --
GO:0031175 neuron projection development IEA,ISS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BLOC1S6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of BLOC1S6 Gene:

BLOC1S6

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.

Evidence on tissue expression from TISSUES for BLOC1S6 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Lung(2.2)
  • Spleen(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BLOC1S6 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Organs:
Head and neck:
  • eye
  • eyelid
  • head
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with BLOC1S6: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S6 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia BLOC1S6 33 34
  • 94.15 (n)
dog
(Canis familiaris)
Mammalia LOC478288 33
  • 92.98 (n)
BLOC1S6 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S6 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bloc1s6 33 16 34
  • 82.46 (n)
rat
(Rattus norvegicus)
Mammalia Bloc1s6 33
  • 81.29 (n)
oppossum
(Monodelphis domestica)
Mammalia BLOC1S6 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLDN 33 34
  • 78.01 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s6 33
  • 67.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1448 33
zebrafish
(Danio rerio)
Actinopterygii bloc1s6 33 34
  • 64.96 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9434 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToOne
Species where no ortholog for BLOC1S6 was found in the sources mined by GeneCards:
  • 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
rs201348482 Pathogenic 45,603,107(-) AACTT(A/G)GTTCT intron-variant, nc-transcript-variant, reference, stop-gained
rs115857479 Likely benign 45,587,291(+) CTCTC(A/G)AGCGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs11638237 Likely benign 45,607,311(+) CGTTG(A/T)CACTG nc-transcript-variant, utr-variant-3-prime
rs58509170 Likely benign 45,606,702(+) ATTTA(C/T)ATGTA nc-transcript-variant, utr-variant-3-prime
rs7181436 Likely benign 45,608,220(+) TGTTG(A/G)AAAAG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S6 Gene

Variant ID Type Subtype PubMed ID
esv3569553 CNV gain 25503493
esv3636341 CNV gain 21293372
esv3892684 CNV gain 25118596
nsv1045556 CNV gain 25217958
nsv1160292 CNV duplication 26073780

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

Human Gene Mutation Database (HGMD)
BLOC1S6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S6 Gene

Disorders for BLOC1S6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 9
  • hps 9
hermansky-pudlak syndrome
  • hps
storage pool platelet disease
  • platelet storage pool deficiency
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
- 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. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PMID: 12191018) Moriyama K … Bonifacino JS (Traffic (Copenhagen, Denmark) 2002) 3 4 22 60
  2. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. (PMID: 11936273) Falcón-Pérez JM … Dell'Angelica EC (Pigment cell research 2002) 3 4 22 60
  3. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (PMID: 10610180) Huang L … Gitschier J (Nature genetics 1999) 2 3 4 60
  4. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee HH … Hurley JH (The Journal of biological chemistry 2012) 3 4 60
  5. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. (PMID: 21998198) Larimore J … Faundez V (Molecular biology of the cell 2011) 3 4 60

Products for BLOC1S6 Gene

Sources for BLOC1S6 Gene

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