Version: 8.0.0
Date: Tue Jan 28 2025
csq-1
Caenorhabditis elegansWB:WBGene00000822
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

csq-1

Species
Caenorhabditis elegans
Symbol
csq-1
Name
CalSeQuestrin 1
Synonyms
  • CELE_F40E10.3
  • F40E10.3
Biotype
protein coding gene
Automated Description
Enables calcium ion binding activity. Involved in calcium ion homeostasis. Located in several cellular components, including apical plasma membrane; nucleus; and sarcolemma. Is expressed in body wall musculature; isthmus; terminal bulb; and vulval muscle. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2 and type 2 diabetes mellitus. Orthologous to human CASQ1 (calsequestrin 1) and CASQ2 (calsequestrin 2).
WB Description
csq-1 encodes a calsequestrin that is required to normal survival in media containing either excess or deficient Ca[2+], and that also binds UNC-68's intraluminal domain; CSQ-1 binds Ca[2+] in vitro, and is thought to buffer Ca[2+] stores in sarcoplasmic reticulum; CSQ-1 is expressed in bodywall muscle cells from mid-embryogenesis to adulthood, as well as in vulval muscles, and in the isthmus and terminal bulb regions of the pharynx; within bodywall muscle cells, CSQ-1 is distributed in a meshlike pattern, which ultrastructurally corresponds with apical sarcoplasmic reticulum, and which is very much like that of the UNC-68 ryanodine receptor; a 17-residue C-terminal domain of CSQ-1 binds the intraluminal loops of UNC-68 in vitro, and deletion of this domain disrupts CSQ-1 subcellular localization in vivo, as do K111A mutations; an N-terminal domain (residues 32-43) is required for CSQ-1's normal subcellular distribution, with a deletion mutant showing aggregate rather than meshlike distribution; in unc-68(e540) or unc-68(r1161) mutants, CSQ-1 is instead distributed randomly within muscle cells, indicating that the subcellular localization of CSQ-1 requires UNC-68; csq-1(RNAi) animals and csq-1(jh109) mutants show no grossly obvious phenotypes, do not enhance unc-68(e540) phenotypes, and display normal muscle cell development and locomotion; however, csq-1(jh109) mutants have abnormally low viability in media containing either excess or deficient Ca[2+]; sca-1 mRNA levels are reduced in csq-1(jh109) mutants; CSQ-1 is orthologous to human CASQ1 (OMIM:114250) and CASQ2 (OMIM:114251, mutated in catecholamine-induced polymorphic ventricular tachycardia).
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10033
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
None
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          WBcel235
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          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

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            Genetic Interactions

            csq-1 role
            csq-1 genetic perturbation
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