CPT1A
entrez
1374
canonical
uniprot
P50416
canonical
ensembl
ENSG00000110090
resolver
ensp
ENSP00000265641
resolver
ensp
ENSP00000365803
resolver
ensp
ENSP00000537720
resolver
ensp
ENSP00000537721
resolver
ensp
ENSP00000636690
resolver
ensp
ENSP00000636691
resolver
genesymbol
CPT1A
resolver
genesymbol_syn
CPT1
resolver
hgnc
HGNC:2328
resolver
uniprot
B2RAQ8
resolver
uniprot
Q8TCU0
resolver
uniprot
Q8WZ48
resolver
uniprot
Q9BWK0
resolver
uniprot_entry
B2RAQ8_HUMAN
resolver
uniprot_entry
CPT1A_HUMAN
resolver
uniprot_entry
Q8WZ48_HUMAN
resolver
uniprot_sec
Q8TCU0
resolver
uniprot_sec
Q9BWK0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by malonyl-CoA. {ECO:0000269|PubMed:14517221}.
uniprot
proteins
amino_acid_sequence
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGSTIPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREGRTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK
uniprot
proteins
disease_involvement
DISEASE: Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. {ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:11441142, ECO:0000269|PubMed:12111367, ECO:0000269|PubMed:12189492, ECO:0000269|PubMed:14517221, ECO:0000269|PubMed:15110323, ECO:0000269|PubMed:15669684, ECO:0000269|PubMed:29425493, ECO:0000269|PubMed:9691089}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
ec_number
2.3.1.21
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:11350182, PubMed:14517221, PubMed:16651524, PubMed:9691089). Also possesses a lysine succinyltransferase activity that can regulate enzymatic activity of substrate proteins such as ENO1 and metabolism independent of its classical carnitine O-palmitoyltransferase activity (PubMed:29425493). Plays an important role in hepatic triglyceride metabolism (By similarity). Also plays a role in inducible regulatory T-cell (iTreg) differentiation once activated by butyryl-CoA that antagonizes malonyl-CoA-mediated CPT1A repression (By similarity). Sustains the IFN-I response by recruiting ZDHCC4 to palmitoylate MAVS at the mitochondria leading to MAVS stabilization and activation (PubMed:38016475). Promotes ROS-induced oxidative stress in liver injury via modulation of NFE2L2 and NLRP3-mediated signaling pathways (By similarity). {ECO:0000250|UniProtKB:P32198, ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:14517221, ECO:0000269|PubMed:16651524, ECO:0000269|PubMed:29425493, ECO:0000269|PubMed:38016475, ECO:0000269|PubMed:9691089}.
uniprot
proteins
mass_dalton
88368
uniprot
proteins
mutagenesis
MUTAGEN 473; /note="H->A: Loss of carnitine O-palmitoyltransferase activity. No loss of the scaffolding activity."; /evidence="ECO:0000269|PubMed:16651524, ECO:0000269|PubMed:38016475
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation.
uniprot
proteins
protein_family
Carnitine/choline acetyltransferase family
uniprot
proteins
pubmed
11350182
uniprot
proteins
pubmed
11441142
uniprot
proteins
pubmed
12111367
uniprot
proteins
pubmed
12189492
uniprot
proteins
pubmed
14517221
uniprot
proteins
pubmed
14711372
uniprot
proteins
pubmed
15110323
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15669684
uniprot
proteins
pubmed
16271724
uniprot
proteins
pubmed
16651524
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21990363
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29425493
uniprot
proteins
pubmed
38016475
uniprot
proteins
pubmed
7892212
uniprot
proteins
pubmed
9691089
uniprot
proteins
sequence_length
773
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:14517221}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 48..73; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..122; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins