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Casq1 Gene Detail
Summary
  • Symbol
    Casq1
  • Name
    calsequestrin 1
  • Synonyms
    CSQ, CSQ-1, CSQ1, sCSQ
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309468
    NCBI Gene: 12372
  • Alliance
    genome feature page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:172037461-172047435 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    344 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309468
 protein coding gene Chr1:172037461-172047462 (-)
129S1/SvImJ ENSMUSG00200045067
 protein coding gene Chr1:169977653-169987599 (-)
A/J ENSMUSG00195046353
 protein coding gene Chr1:169279081-169289039 (-)
AKR/J ENSMUSG00220026968
 protein coding gene Chr1:169010180-169020136 (-)
BALB/cJ ENSMUSG00180041305
 protein coding gene Chr1:169606285-169616231 (-)
C3H/HeJ ENSMUSG00175044658
 protein coding gene Chr1:169617251-169627197 (-)
C57BL/6NJ ENSMUSG00215042913
 protein coding gene Chr1:168995115-169005090 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014889
 protein coding gene Chr1:162482961-162492900 (-)
CAST/EiJ ENSTCUG00005044785
 protein coding gene Chr1:167560756-167570741 (-)
CBA/J ENSMUSG00210035312
 protein coding gene Chr1:169484523-169494500 (-)
DBA/2J ENSMUSG00185028713
 protein coding gene Chr1:173786634-173796611 (-)
FVB/NJ ENSMUSG00205038249
 protein coding gene Chr1:168457637-168467608 (-)
JF1/MsJ ENSUMUG00000013832
 protein coding gene Chr1:172711069-172721020 (-)
LP/J ENSMUSG00230026091
 protein coding gene Chr1:173382489-173392519 (-)
NOD/ShiLtJ ENSMUSG00190037637
 protein coding gene Chr1:169292720-169302665 (-)
NZO/HlLtJ ENSMUSG00225003205
 protein coding gene Chr1:176962480-176972522 (-)
PWK/PhJ ENSLUMG00010033369
 protein coding gene Chr1:168245672-168255632 (-)
SPRET/EiJ ENSMSPG00010044749
 protein coding gene Chr1:171601492-171611539 (-)
WSB/EiJ ENSIUOG00005038953
 protein coding gene Chr1:168622279-168632217 (-)



Homology
more
  • Human Ortholog
    CASQ1, calsequestrin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASQ1, calsequestrin 1
  • Synonyms
    CASQ, CSQ1, PDIB1, VMCQA
  • Links
    NCBI Gene ID: 844
    UniProt: P31415

  • Chr Location
    1q23.2; chr1:160190385-160201886 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CASQ1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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 knockout mice exhibit structural alterations of the Ca2+ release units, an increased frequency of mitochondria, and significantly impaired calcium handling in skeletal muscle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    72
  • GO References
    17
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
    637
  • Tissues
    22
  • cDNA Data
    34
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000007122 Ensembl Gene Model | MGI Sequence Detail 9975 C57BL/6J ±  kb
    transcript ENSMUST00000003554 Ensembl | MGI Sequence Detail 1847 Not Applicable  
    polypeptide ENSMUSP00000003554 Ensembl | MGI Sequence Detail 405 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      Genomic 11
      cDNA 35
      Primer pair 5
      Antibodies 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 17
      Gene Ontology 17
      Phenotypes 28
    • Earliest
      J:20768 Lucas-Heron B, et al., Mdx mouse skeletal muscle: could a mitochondrial factor be responsible for the absence of progressive necrosis?. Neurosci Lett. 1994 Mar 14;169(1-2):97-100
    • Latest
      J:365014 Ren H, et al., CTCF Point Mutation at R567 Disrupts Mouse Heart Development via 3D Genome Rearrangement and Transcription Dysregulation. Cell Prolif. 2025 Apr;58(4):e13783
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory