Gene

cpt1aa

ID
ZDB-GENE-060503-925
Name
carnitine palmitoyltransferase 1Aa (liver)
Symbol
cpt1aa Nomenclature History
Previous Names
  • cpt1a
  • si:dkey-56p7.8
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Is predicted to enable carnitine O-palmitoyltransferase activity. Involved in carnitine metabolic process and fatty acid metabolic process. Acts upstream of or within lymphangiogenesis and regulation of fatty acid beta-oxidation. Predicted to be located in mitochondrial outer membrane. Predicted to be integral component of membrane. Is expressed in liver and male organism. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency and lipid metabolism disorder. Orthologous to human CPT1A (carnitine palmitoyltransferase 1A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
14 figures from 14 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Zecchin et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cpt1aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
carnitine palmitoyltransferase I deficiency Alliance CPT deficiency, hepatic, type IA 255120
Associated With cpt1aa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032476 Carnitine O-palmitoyltransferase, N-terminal
Domain IPR039551 Choline/carnitine acyltransferase domain
Family IPR000542 Acyltransferase ChoActase/COT/CPT
Homologous_superfamily IPR042231 Choline/Carnitine o-acyltransferase, domain 2
Homologous_superfamily IPR042232 Choline/Carnitine o-acyltransferase, domain 1
Domain Details Per Protein
Protein Length Acyltransferase ChoActase/COT/CPT Carnitine O-palmitoyltransferase, N-terminal Choline/carnitine acyltransferase domain Choline/Carnitine o-acyltransferase, domain 1 Choline/Carnitine o-acyltransferase, domain 2
UniProtKB:A0A0R4ILW3
UniProtKB:A0A1L1U0X8 774
UniProtKB:Q1MTA9 773
UniProtKB:A0A0U1RNE4 7
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations