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
Predicted to enable carnitine O-palmitoyltransferase activity. Acts upstream of or within regulation of fatty acid beta-oxidation. Predicted to be located in membrane. Predicted to be active in mitochondrion. Is expressed in adipose tissue; digestive system; female organism; male organism; and muscle. 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
29 figures from 25 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa16862Allele with one point mutationUnknownPremature StopENU
sa34169Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-cpt1aaN/A (2)
MO2-cpt1aaN/AZecchin et al., 2018
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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
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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 IPR023213 Chloramphenicol acetyltransferase-like domain superfamily
Homologous_superfamily IPR042231 Choline/Carnitine o-acyltransferase, domain 2
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Domain Details Per Protein
Protein Length Acyltransferase ChoActase/COT/CPT Carnitine O-palmitoyltransferase, N-terminal Chloramphenicol acetyltransferase-like domain superfamily Choline/carnitine acyltransferase domain Choline/Carnitine o-acyltransferase, domain 2
UniProtKB:A0A0R4ILW3
UniProtKB:Q1MTA9 773
UniProtKB:A0A8M1N9G1 774
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 7
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cpt1aa-201 (1) Ensembl 2,325 nt
mRNA cpt1aa-202 (1) Ensembl 3,354 nt
mRNA cpt1aa-203 (1) Ensembl 440 nt
mRNA cpt1aa-204 (1) Ensembl 2,574 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-56P7ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCPT1A11
Phylogenetic tree (1)
Amino acid sequence comparison (2)
MouseCpt1a19
Amino acid sequence comparison (1)
Citations
1 - 10 of 98
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