Fan-Yan. Wei, et.al., Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans., Cell metabolism, 2015, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/25738458

Fan-Yan. Wei, et.al., Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans., Cell metabolism, 2015, 21

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Cdk5rap1<tm1.1Tomik>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5750450
• Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5750452

class

http://purl.org/net/cito/citesAsAuthority

• Cdk5rap1<tm1.1Tomik>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5750450
• Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5750452

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal enzyme/coenzyme activity_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0005584B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal mitochondrial ATP synthesis coupled electron transport_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0010956B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• decreased oxygen consumption_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0005290B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal translation_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0013272B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal mitochondrial chromosome morphology_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0011638B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal respiratory electron transport chain_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0010955B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• decreased circulating glucose level_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0005560B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• oxidative stress_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0003674B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal cell physiology_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0005621B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal mitochondrial physiology_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0006036B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• decreased calcium uptake by cardiac muscle_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0012557B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• decreased cardiac muscle contractility_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0005140B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• impaired exercise endurance_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0012106B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal mitophagy_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0014046B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• cardiac hypertrophy_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0001625B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal mitochondrial crista morphology_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0011635B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• increased response of heart to induced stress_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0004485B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• increased mitochondria size_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0011630B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik
• abnormal oxidative phosphorylation_Cdk5rap1<tm1.2Tomik>/Cdk5rap1<tm1.2Tomik>
  http://metadb.riken.jp/0010959B6JCgCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12TomikCdk5rap1tm12Tomik