Gene/Proteome Database (LMPD)
LMPD ID
LMP000790
Gene ID
Species
Homo sapiens (Human)
Gene Name
carnitine palmitoyltransferase 2
Gene Symbol
Synonyms
CPT1; CPTASE; IIAE4
Alternate Names
carnitine O-palmitoyltransferase 2, mitochondrial; CPT II; carnitine palmitoyltransferase II
Chromosome
1
Map Location
1p32
EC Number
2.3.1.21
Summary
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| carnitine O-palmitoyltransferase 2, mitochondrial precursor | |
|---|---|
| Refseq ID | NP_000089 |
| Protein GI | 4503023 |
| UniProt ID | P23786 |
| mRNA ID | NM_000098 |
| Length | 658 |
| RefSeq Status | REVIEWED |
| MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS | |
| transit_peptide: 1..25 calculated_mol_wt: 2665 peptide sequence: MVPRLLLRAWPRGPAVGPGAPSRPL mat_peptide: 26..658 product: carnitine O-palmitoyltransferase 2, mitochondrial calculated_mol_wt: 71130 peptide sequence: SAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS | |
Gene Information
Entrez Gene ID
Gene Name
carnitine palmitoyltransferase 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005743 | NAS:UniProtKB | C | mitochondrial inner membrane |
| GO:0005739 | IDA:HPA | C | mitochondrion |
| GO:0005730 | IDA:HPA | C | nucleolus |
| GO:0005634 | IDA:HPA | C | nucleus |
| GO:0004095 | NAS:UniProtKB | F | carnitine O-palmitoyltransferase activity |
| GO:0006853 | TAS:Reactome | P | carnitine shuttle |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0006635 | IEA:UniProtKB-UniPathway | P | fatty acid beta-oxidation |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa03320 | PPAR signaling pathway |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY-6111 | mitochondrial L-carnitine shuttle pathway |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_116145 | PPARA activates gene expression |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR000542 | Acyltransferase ChoActase/COT/CPT |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine. |
| Disease | Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM |
| Disease | Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM |
| Disease | Carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN) [MIM |
| Disease | Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM |
| Pathway | Lipid metabolism; fatty acid beta-oxidation. |
| Similarity | Belongs to the carnitine/choline acetyltransferase family. |
| Subcellular Location | Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000790 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4503023 | RefSeq | NP_000089 | 658 | carnitine O-palmitoyltransferase 2, mitochondrial precursor |
Identical Sequences to LMP000790 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4503023 | DBBJ | BAG35567.1 | 658 | unnamed protein product [Homo sapiens] |
| GI:4503023 | EMBL | CBN63525.1 | 658 | unnamed protein product [Homo sapiens] |
| GI:4503023 | EMBL | CBN60633.1 | 658 | unnamed protein product [Homo sapiens] |
| GI:4503023 | EMBL | CBN65242.1 | 658 | unnamed protein product [Homo sapiens] |
| GI:4503023 | GenBank | EAX06753.1 | 658 | carnitine palmitoyltransferase II [Homo sapiens] |
| GI:4503023 | GenBank | ADS59417.1 | 658 | Sequence 568 from patent US 7807392 |
Related Sequences to LMP000790 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4503023 | GenBank | AAH02445.1 | 658 | Carnitine palmitoyltransferase 2 [Homo sapiens] |
| GI:4503023 | GenBank | AAH05172.1 | 658 | Carnitine palmitoyltransferase 2 [Homo sapiens] |
| GI:4503023 | GenBank | JAA04511.1 | 658 | carnitine palmitoyltransferase 2 [Pan troglodytes] |
| GI:4503023 | GenBank | JAA13797.1 | 658 | carnitine palmitoyltransferase 2 [Pan troglodytes] |
| GI:4503023 | GenBank | JAA13798.1 | 658 | carnitine palmitoyltransferase 2 [Pan troglodytes] |
| GI:4503023 | GenBank | JAA13799.1 | 658 | carnitine palmitoyltransferase 2 [Pan troglodytes] |