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The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine Palmitoyltransferase Ii Deficiency, Infantile. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J068836 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.6 | +3.7 | 3666 | 8.1 | SIN3A ZNF24 SP1 CTCF SREBF1 FOXA1 MLX RBPJ POLR2A CTBP1 | CPT1A IGHMBP2 PPP6R3 LTO1 KMT5B MRGPRF-AS1 MRGPRF ENSG00000260808 TPCN2 ENSG00000261625 | |
GH11J068844 | Enhancer | 0.9 | ENCODE | 750.6 | -0.8 | -780 | 0.7 | FOXA1 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 RAD21 MNT | CPT1A IGHMBP2 piR-32677-080 | |
GH11J068854 | Promoter/Enhancer | 1.7 | FANTOM5 ENCODE CraniofacialAtlas dbSUPER | 1.9 | -12.5 | -12462 | 3.8 | LCORL FOXA1 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 HLF | IGHMBP2 LINC02701 TESMIN MRPL21 CPT1A piR-32677-080 | |
GH11J068827 | Enhancer | 0.6 | FANTOM5 dbSUPER | 2.4 | +15.6 | 15575 | 0.3 | MYC MAX EBF1 POLR2A | LINC02701 CPT1A TESMIN piR-35674-080 RF00001-064 | |
GH11J068829 | Enhancer | 0.5 | FANTOM5 dbSUPER | 1.7 | +15.1 | 15110 | 0.1 | GABPA | CPT1A piR-35674-080 RF00001-064 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004095 | carnitine O-palmitoyltransferase activity | TAS,IDA | 7892212 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO:1990698 | palmitoleoyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | TAS,IDA | 11350182 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0031307 | integral component of mitochondrial outer membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | AMP-activated Protein Kinase (AMPK) Signaling | ||
2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Fatty Acyl-CoA Biosynthesis | ||
4 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
-
|
|
5 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001676 | long-chain fatty acid metabolic process | IDA | 11350182 |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006635 | fatty acid beta-oxidation | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Perhexiline | Approved, Investigational | Pharma | Target, inhibitor | 8 | ||
L-Carnitine | Approved, Investigational | Pharma | Target, activator | 0 | ||
Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inhibitor | Kir6 (KATP) channel blocker | 125 | |
Glycerol | Approved, Investigational | Pharma | 202 | |||
Coenzyme A | Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
hexadecanoyl-CoA |
|
|
||||
L-Palmitoylcarnitine |
|
2364-67-2 |
|
|||
Palmityl-CoA |
|
1763-10-6 |
|
|||
Triglycerides Group A |
|
|
||||
Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 |
|
Compound | Action | Cas Number |
---|---|---|
(R)-(+)-Etomoxir sodium salt | 828934-41-4 | |
Etomoxir | (CPT)-1 and DGAT activity inhibitor | 124083-20-1 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CPT1A 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CPT1A 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CPT1A 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CPT1A 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | CPT1A 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Cpt1a 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cpt1a 32 |
|
||
chicken (Gallus gallus) |
Aves | CPT1A 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CPT1A 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490391 32 |
|
||
Str.5281 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC53498 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CPT1A (3 of 3) 33 |
|
OneToMany | |
cpt1a 33 |
|
OneToMany | |||
si:ch211-236l14.3 32 |
|
||||
CABZ01055343.2 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CPTI 34 |
|
|
|
whd 33 |
|
OneToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | Y46G5A.17 34 |
|
|
|
cpt-1 33 |
|
OneToMany | |||
W03F9.4 34 |
|
|
|||
W01A11.5 34 |
|
|
|||
K11D12.4 34 |
|
|
|||
Y48G9A.10 34 |
|
|
|||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
Cin.3088 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3088 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1055176086 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,799,217(-) | C/A/G/T | splice_donor_variant | |
rs1057516304 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,781,825(-) | T/ | coding_sequence_variant, frameshift | |
rs1057516396 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,793,363(-) | G/A | coding_sequence_variant, stop_gained | |
rs1057516434 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,812,532(-) | C/T | coding_sequence_variant, stop_gained | |
rs1057516586 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,773,294(-) | G/A | coding_sequence_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2664873 | CNV | deletion | 23128226 |
esv2744667 | CNV | deletion | 23290073 |
esv3626741 | CNV | loss | 21293372 |
nsv1122639 | CNV | deletion | 24896259 |
nsv1133169 | CNV | tandem duplication | 24896259 |
nsv1134152 | CNV | deletion | 24896259 |
nsv1144574 | CNV | deletion | 24896259 |
nsv373 | CNV | deletion | 18451855 |
nsv428261 | CNV | gain | 18775914 |
nsv509422 | CNV | insertion | 20534489 |
nsv825967 | CNV | loss | 20364138 |
nsv825968 | CNV | loss | 20364138 |
nsv825969 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
carnitine palmitoyltransferase i deficiency |
|
|
carnitine palmitoyltransferase ii deficiency, infantile |
|
|
carnitine-acylcarnitine translocase deficiency |
|
|
visceral steatosis |
|
|
hypoglycemia |
|