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Bloc1s6 Gene Detail
Summary
  • Symbol
    Bloc1s6
  • Name
    biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
  • Synonyms
    BLOC-1, BLOC-1 subunit, Pldn
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927580
    NCBI Gene: 18457
  • Gene Overview
    MyGene.info: BLOC1S6
Location & Maps
more
  • Sequence Map
    Chr2:122738503-122749475 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10973 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.66 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    54 experiments
Homology
more
  • Human Ortholog
    BLOC1S6, biogenesis of lysosomal organelles complex 1 subunit 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BLOC1S6, biogenesis of lysosomal organelles complex 1 subunit 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BLOS6, HPS9, PA, PALLID, PLDN
  • Links
    NCBI Gene ID: 26258
    neXtProt AC: NX_Q9UL45

  • Chr Location
    15q21.1; chr15:45587219-45609711 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Bloc1s6 mouse models; 1 with human BLOC1S6 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 9; HPS9   OMIM: 614171 View 1 model
       Emphysema, Hereditary Pulmonary   OMIM: 130700 View 1 model
Storage Pool Platelet Disease   OMIM: 185050 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 1 allele in 3 genetic backgrounds
    18 phenotypes from multigenic genotypes
    1 images
    70 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Genomic Mutations
    2 involving Bloc1s6
  • Incidental Mutations
    APF
Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015683 VEGA Gene Model | MGI Sequence Detail 10973 C57BL/6J ±  kb
transcript OTTMUST00000037272 VEGA | MGI Sequence Detail 3484 Not Applicable  
polypeptide OTTMUSP00000016699 VEGA | MGI Sequence Detail 172 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    120 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012849 biogenesis of lysosome-related organelles complex 1 subunit 6
  • InterPro Domains
    IPR017242 BLOC-1 complex, pallidin subunit
    IPR028119 Snapin/Pallidin/Snn1
Molecular
Reagents
less
  • All nucleic 61
    cDNA 61

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-13119, MGI:97468
References
more
  • Summaries
    All 133
    Developmental Gene Expression 2
    Diseases 3
    Gene Ontology 12
    Phenotypes 70
  • Earliest
    J:13138 Roberts E, A new mutation in the house mouse (Mus musculus). Science. 1931;74:569
  • Latest
    J:221384 Meng R, et al., Defective release of alpha granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood. 2015 Mar 5;125(10):1623-32

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory