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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
  • Gene Overview
    MyGene.info: BLOC1S4
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:36747378-36748650 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 19.24 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929230
protein coding gene Chr5:36747374-36748679 (-)
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
    10
  • Human Ortholog
    BLOC1S4, biogenesis of lysosomal organelles complex 1 subunit 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCAS4L, BLOS4, CNO
  • Links
    NCBI Gene ID: 55330
    neXtProt AC: NX_Q9NUP1
    UniProt: Q9NUP1

  • Chr Location
    4p16.1; chr4:6716115-6717660 (+)  GRCh38.p7

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
    23 phenotypes from 1 allele in 2 genetic backgrounds
    27 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.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    4
  • Spontaneous
    3
  • Targeted
    1
  • Genomic Mutations
    8 involving Bloc1s4
  • Find Mice (IMSR)
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
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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 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 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 50
    Diseases 3
    Gene Ontology 7
    Phenotypes 27
  • 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: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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory