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Bloc1s3 Gene Detail
Summary
  • Symbol
    Bloc1s3
  • Name
    biogenesis of lysosomal organelles complex-1, subunit 3
  • Synonyms
    BLOS3, rp
  • Feature Type
    protein coding gene
  • IDs
    MGI:2678952
    NCBI Gene: 232946
Location & Maps
more
  • Sequence Map
    Chr7:19504486-19508367 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3882 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.92 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BLOS3, HPS8, RP
  • Links
    NCBI Gene ID: 388552
    neXtProt AC: NX_Q6QNY0

  • Chr Location
    19q13.32; chr19:45178745-45217078 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Bloc1s3 mouse models; 1 with human BLOC1S3 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 8; HPS8   OMIM: 614077 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Gene trapped
    10
  • Spontaneous
    1
  • Targeted
    1
Homozygotes have a hypopigmented coat color and show phenotypic similarity to human Hermansky-Pudlak Syndrome.
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000059241 VEGA Gene Model | MGI Sequence Detail 3882 C57BL/6J ±  kb
transcript OTTMUST00000145389 VEGA | MGI Sequence Detail 3188 Not Applicable  
polypeptide OTTMUSP00000075754 VEGA | MGI Sequence Detail 195 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    36 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004764 biogenesis of lysosome-related organelles complex 1 subunit 3
  • InterPro Domains
    IPR017245 BLOC-1 complex, subunit 3
Molecular
Reagents
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  • All nucleic 15
    cDNA 15

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14012, MGI:98000
References
more
  • Summaries
    All 44
    Diseases 1
    Gene Ontology 13
    Phenotypes 14
  • Earliest
    J:64459 Lundin LG, rp - reduced pigmentation. Mouse News Lett. 1979;61:66
  • Latest
    J:187545 Larimore J, et al., The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011 Dec;22(24):4854-67

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory