AutismKB 2.0

Annotation Details for CASQ1


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Basic Information Top
Gene Symbol:CASQ1 ( CASQ,PDIB1 )
Gene Full Name: calsequestrin 1 (fast-twitch, skeletal muscle)
Band: 1q23.2
Quick LinksEntrez ID:844; OMIM: 114250; Uniprot ID:CASQ1_HUMAN; ENSEMBL ID: ENSG00000143318; HGNC ID: 1512
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion20833797
GO:0005759ISS-mitochondrial matrix-
GO:0005783NAS-endoplasmic reticulum7945294
GO:0005790TAS-smooth endoplasmic reticulum7945294
GO:0005794IEA-Golgi apparatus-
GO:0014804IEA-terminal cisterna lumen-
GO:0016529ISS-sarcoplasmic reticulum-
GO:0030315IEA-T-tubule-
GO:0031674IEA-I band-
GO:0033017TAS-sarcoplasmic reticulum membrane-
GO:0033018ISS-sarcoplasmic reticulum lumen-
GO ID Evidence Qualifier GO_term References
GO:0005509IDA-calcium ion binding22337878
GO ID Evidence Qualifier GO_term References
GO:0007029IEA-endoplasmic reticulum organization-
GO:0007519IEA-skeletal muscle tissue development-
GO:0009408IEA-response to heat-
GO:0010033IEA-response to organic substance-
GO:0014809ISS-regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion-
GO:0014894IEA-response to denervation involved in regulation of muscle adaptation-
GO:0034220TAS-ion transmembrane transport-
GO:0045214ISS-sarcomere organization-
GO:0051258IDA-protein polymerization22337878
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1309468
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018