AutismKB 2.0

Annotation Details for CPT1A


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Basic Information Top
Gene Symbol:CPT1A ( CPT1,CPT1-L,L-CPT1 )
Gene Full Name: carnitine palmitoyltransferase 1A (liver)
Band: 11q13.3
Quick LinksEntrez ID:1374; OMIM: 600528; Uniprot ID:CPT1A_HUMAN; ENSEMBL ID: ENSG00000110090; HGNC ID: 2328
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion11350182
GO:0005741TAS-mitochondrial outer membrane-
GO:0005743IEA-mitochondrial inner membrane-
GO:0016020IDA-membrane19946888
GO:0031307ISS-integral component of mitochondrial outer membrane-
GO ID Evidence Qualifier GO_term References
GO:0004095IDA-carnitine O-palmitoyltransferase activity7892212
GO:0004095TAS-carnitine O-palmitoyltransferase activity-
GO:0042802IEA-identical protein binding-
GO:1990698IEA-palmitoleoyltransferase activity-
GO ID Evidence Qualifier GO_term References
GO:0001676IDA-long-chain fatty acid metabolic process11350182
GO:0006006IEA-glucose metabolic process-
GO:0006635IEA-fatty acid beta-oxidation-
GO:0006641IEA-triglyceride metabolic process-
GO:0006853TAS-carnitine shuttle-
GO:0007623TAS-circadian rhythm-
GO:0009437IDA-carnitine metabolic process11350182
GO:0014070IEA-response to organic cyclic compound-
GO:0019216TAS-regulation of lipid metabolic process-
GO:0030855IEP-epithelial cell differentiation21492153
GO:0032000IEA-positive regulation of fatty acid beta-oxidation-
GO:0042493IEA-response to drug-
GO:0042755IEA-eating behavior-
GO:0050796IEA-regulation of insulin secretion-
GO:0051260IEA-protein homooligomerization-
GO:0071398IEA-cellular response to fatty acid-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CPT1ACLN310776520562859 Affinity Capture-MS
CPT1ACLN310761220562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1098296
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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