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Bloc1s4 Gene Detail
Summary
  • Symbol
    Bloc1s4
  • Name
    biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
  • Synonyms
    2610101N07Rik, Blos4, Cno
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929230
    NCBI Gene: 117197
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:36904722-36905994 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 19.24 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    121 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929230
 protein coding gene Chr5:36904718-36906023 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029493
 protein coding gene Chr5:35071166-35072438 (-)
A/J MGP_AJ_G0029460
 protein coding gene Chr5:33921028-33922300 (-)
AKR/J MGP_AKRJ_G0029409
 protein coding gene Chr5:35202646-35203918 (-)
BALB/cJ MGP_BALBcJ_G0029470
 protein coding gene Chr5:34425612-34426884 (-)
C3H/HeJ MGP_C3HHeJ_G0029192
 protein coding gene Chr5:35209716-35210988 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029924
 protein coding gene Chr5:36974677-36975949 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027161
 protein coding gene Chr5:31655335-31656606 (-)
CAST/EiJ MGP_CASTEiJ_G0028601
 protein coding gene Chr5:34342441-34343697 (-)
CBA/J MGP_CBAJ_G0029160
 protein coding gene Chr5:37884001-37885273 (-)
DBA/2J MGP_DBA2J_G0029308
 protein coding gene Chr5:34051262-34052534 (-)
FVB/NJ MGP_FVBNJ_G0029267
 protein coding gene Chr5:33530972-33532244 (-)
LP/J MGP_LPJ_G0029393
 protein coding gene Chr5:35527986-35529258 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029297
 protein coding gene Chr5:38622929-38624201 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029957
 protein coding gene Chr5:34694537-34695809 (-)
PWK/PhJ MGP_PWKPhJ_G0028326
 protein coding gene Chr5:33234524-33235796 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028157
 protein coding gene Chr5:34166465-34167737 (-)
WSB/EiJ MGP_WSBEiJ_G0028682
 protein coding gene Chr5:34781081-34782353 (-)



Homology
more
  • Human Ortholog
    BLOC1S4, biogenesis of lysosomal organelles complex 1 subunit 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BLOC1S4, biogenesis of lysosomal organelles complex 1 subunit 4
  • Synonyms
    BCAS4L, BLOS4, CNO
  • Links
    NCBI Gene ID: 55330
    neXtProt AC: NX_Q9NUP1
    UniProt: Q9NUP1

  • Chr Location
    4p16.1; chr4:6716174-6717664 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bloc1s4 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
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
less
  • Phenotype Summary
    31 phenotypes from 2 alleles in 3 genetic backgrounds
    29 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.
Homozygous mutant animals exhibit a very dilute coat and eye color due to a reduced number of melanosomes. 75% of homozygous mutant animals exhibit some form of posture or balance abnormality, with variable severity. Platelet dense bodies are markedly deficient leading to prolonged bleeding.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    706
  • cDNA Data
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000060708 Ensembl Gene Model | MGI Sequence Detail 1273 C57BL/6J ±  kb
    transcript ENSMUST00000071949 Ensembl | MGI Sequence Detail 1273 Not Applicable  
    polypeptide ENSMUSP00000071840 Ensembl | MGI Sequence Detail 215 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 19

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1917578
    References
    more
    • Summaries
      All 54
      Diseases 3
      Gene Ontology 9
      Phenotypes 29
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory