Community Action Needed: Please respond to the NIH RFI
Gene

cpt1a2b

ID
ZDB-GENE-050417-155
Name
carnitine palmitoyltransferase 1A2b
Symbol
cpt1a2b Nomenclature History
Previous Names
  • cpt1cb (1)
  • si:dkey-16p21.4
  • zgc:112484
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to enable carnitine O-palmitoyltransferase activity. Predicted to be involved in carnitine metabolic process and fatty acid metabolic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in mitochondrial outer membrane. Predicted to be integral component of membrane. Predicted to be active in mitochondrion. Is expressed in EVL; periderm; and polster. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 73. Orthologous to human CPT1C (carnitine palmitoyltransferase 1C).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cpt1a2b 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 cpt1a2b 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:A0A286YAG3 535
UniProtKB:E7EYD4 780
UniProtKB:Q566T9 166
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