About   Help   FAQ
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
    gene 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
    18
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 MGP_129S1SvImJ_G0016781
 protein coding gene Chr1:178067678-178077624 (-)
A/J MGP_AJ_G0016760
 protein coding gene Chr1:170778096-170788054 (-)
AKR/J MGP_AKRJ_G0016726
 protein coding gene Chr1:175940360-175950314 (-)
BALB/cJ MGP_BALBcJ_G0016721
 protein coding gene Chr1:171324883-171334829 (-)
C3H/HeJ MGP_C3HHeJ_G0016545
 protein coding gene Chr1:176512960-176522906 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017183
 protein coding gene Chr1:183975783-183987256 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014889
 protein coding gene Chr1:162482961-162492900 (-)
CAST/EiJ MGP_CASTEiJ_G0016125
 protein coding gene Chr1:175872964-175886125 (-)
CBA/J MGP_CBAJ_G0016519
 protein coding gene Chr1:190529041-190539053 (-)
DBA/2J MGP_DBA2J_G0016626
 protein coding gene Chr1:169715010-169724953 (-)
FVB/NJ MGP_FVBNJ_G0016623
 protein coding gene Chr1:167971102-167981075 (-)
LP/J MGP_LPJ_G0016697
 protein coding gene Chr1:179159394-179169340 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016650
 protein coding gene Chr1:197776203-197786147 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017219
 protein coding gene Chr1:175808680-175818638 (-)
PWK/PhJ MGP_PWKPhJ_G0015911
 protein coding gene Chr1:169090348-169100482 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015693
 protein coding gene Chr1:174758580-174770385 (-)
WSB/EiJ MGP_WSBEiJ_G0016187
 protein coding gene Chr1:175964004-175975234 (-)



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
    neXtProt AC: NX_P31415
    UniProt: P31415

  • Chr Location
    1q23.2; chr1:160190575-160201886 (+)  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
    45
  • GO References
    15
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
    742
  • Tissues
    21
  • cDNA Data
    34
  • Literature Summary
    16
  • 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 50
      Genomic 11
      cDNA 35
      Primer pair 4

      Microarray probesets 3
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 16
      Gene Ontology 15
      Phenotypes 28
    • Earliest
      J:212821 Bataille N, et al., Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine. Biochem Biophys Res Commun. 1994 Sep 30;203(3):1477-82
    • Latest
      J:350439 Tan RL, et al., The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization. Dis Model Mech. 2024 Jun 1;17(6)
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory