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Casq1 Gene Detail
Summary
  • Symbol
    Casq1
  • Name
    calsequestrin 1
  • Synonyms
    CSQ, CSQ1, CSQ-1, sCSQ
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309468
    NCBI Gene: 12372
Location & Maps
more
  • Sequence Map
    Chr1:172209894-172219868 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9975 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    CASQ1, calsequestrin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CASQ1, calsequestrin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CASQ, PDIB1, VMCQA
  • Links
    NCBI Gene ID: 844
    neXtProt AC: NX_P31415

  • Chr Location
    1q21; chr1:160190495-160201886 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CASQ1 associations

Human Disease Mouse Models
       Myopathy, Vacuolar, with Casq1 Aggregates; VMCQA   OMIM: 616231
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    16 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.
  • All Mutations and Alleles
    14
  • Chemically induced (other)
    2
  • Gene trapped
    10
  • Targeted
    2
  • Genomic Mutations
    2 involving Casq1
  • Incidental Mutations
Mice homozygous for an insertional mutation that inactivates the gene 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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035165 VEGA Gene Model | MGI Sequence Detail 9975 C57BL/6J ±  kb
transcript OTTMUST00000089560 VEGA | MGI Sequence Detail 1847 Not Applicable  
polypeptide OTTMUSP00000048962 VEGA | MGI Sequence Detail 405 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    151 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 43
    Genomic 11
    cDNA 31
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 52
    Developmental Gene Expression 10
    Gene Ontology 12
    Phenotypes 16
  • 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:229890 Ang SY, et al., KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development. 2016 Mar 1;143(5):810-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory