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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19505783-19508358 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.92 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    30 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2678952
protein coding gene Chr7:19504486-19508367 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031780
protein coding gene Chr7:17521609-17524122 (-)
A/J MGP_AJ_G0031756
protein coding gene Chr7:17151617-17154134 (-)
AKR/J MGP_AKRJ_G0031682
protein coding gene Chr7:17627324-17629841 (-)
BALB/cJ MGP_BALBcJ_G0031761
protein coding gene Chr7:17358152-17360669 (-)
C3H/HeJ MGP_C3HHeJ_G0031483
protein coding gene Chr7:17890011-17892524 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032227
protein coding gene Chr7:18393587-18396104 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029293
protein coding gene Chr7:18802914-18805487 (-)
CAST/EiJ MGP_CASTEiJ_G0030827
protein coding gene Chr7:14326291-14328805 (-)
CBA/J MGP_CBAJ_G0031445
protein coding gene Chr7:19051673-19054186 (-)
DBA/2J MGP_DBA2J_G0031600
protein coding gene Chr7:17100309-17102826 (-)
FVB/NJ MGP_FVBNJ_G0031552
protein coding gene Chr7:16959147-16961685 (-)
LP/J MGP_LPJ_G0031683
protein coding gene Chr7:17841923-17844436 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031588
protein coding gene Chr7:18901407-18903920 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032255
protein coding gene Chr7:17230340-17232857 (-)
PWK/PhJ MGP_PWKPhJ_G0030550
protein coding gene Chr7:14199466-14202095 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030377
protein coding gene Chr7:11940492-11943028 (-)
WSB/EiJ MGP_WSBEiJ_G0030926
protein coding gene Chr7:17454079-17456570 (-)



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: HomoloGene, HGNC
  • Synonyms
    BLOS3, HPS8, RP
  • Links
    NCBI Gene ID: 388552
    neXtProt AC: NX_Q6QNY0
    UniProt: Q6QNY0

  • Chr Location
    19q13.32; chr19:45178745-45202715 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 232946 NCBI Gene Model | MGI Sequence Detail 2576 C57BL/6J ±  kb
transcript NM_177692 RefSeq | MGI Sequence Detail 1873 C57BL/6  
polypeptide Q5U5M8 UniProt | EBI | MGI Sequence Detail 195 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 16

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14012, MGI:98000
References
more
  • Summaries
    All 46
    Diseases 1
    Gene Ontology 12
    Phenotypes 15
  • Earliest
    J:6470 Gibb S, et al., Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res. 1981 Feb;37(1):95-103
  • Latest
    J:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
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last database update
06/04/2019
MGI 6.14
The Jackson Laboratory