Gene/Proteome Database (LMPD)

LMPD ID
LMP002018
Gene ID
1374
Species
Homo sapiens (Human)
Gene Name
carnitine palmitoyltransferase 1A (liver)
Gene Symbol
CPT1A
Synonyms
CPT1; CPT1-L; L-CPT1
Chromosome
11
Map Location
11q13.2
EC Number
2.3.1.21
Summary
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]
Orthologs
View orthologs and multiple alignments for CPT1A

Proteins

carnitine O-palmitoyltransferase 1, liver isoform isoform 1
Refseq ID NP_001867
Protein GI 73623030
UniProt ID Q8WZ48
mRNA ID NM_001876
Length 773
RefSeq Status REVIEWED
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGSTIPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREGRTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK
carnitine O-palmitoyltransferase 1, liver isoform isoform 2
Refseq ID NP_001027017
Protein GI 73623028
UniProt ID P50416
mRNA ID NM_001031847
Length 756
RefSeq Status REVIEWED
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGSTIPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREGRTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETGIISQGPSSDT

Gene Information

Entrez Gene ID
1374
Gene Name
carnitine palmitoyltransferase 1A (liver)
Gene Symbol
CPT1A
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0031307 ISS:UniProtKB C integral component of mitochondrial outer membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0005743 IEA:Ensembl C mitochondrial inner membrane
GO:0005741 TAS:Reactome C mitochondrial outer membrane
GO:0005739 IDA:UniProtKB C mitochondrion
GO:0004095 IDA:UniProtKB F carnitine O-palmitoyltransferase activity
GO:0009437 IDA:UniProtKB P carnitine metabolic process
GO:0006853 TAS:Reactome P carnitine shuttle
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0071398 IEA:Ensembl P cellular response to fatty acid
GO:0042755 IEA:Ensembl P eating behavior
GO:0030855 IEP:UniProt P epithelial cell differentiation
GO:0006635 TAS:ProtInc P fatty acid beta-oxidation
GO:0006006 IEA:Ensembl P glucose metabolic process
GO:0001676 IDA:UniProtKB P long-chain fatty acid metabolic process
GO:0032000 IEA:Ensembl P positive regulation of fatty acid beta-oxidation
GO:0051260 IEA:Ensembl P protein homooligomerization
GO:0050796 IEA:Ensembl P regulation of insulin secretion
GO:0042493 IEA:Ensembl P response to drug
GO:0014070 IEA:Ensembl P response to organic cyclic compound
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006641 IEA:Ensembl P triglyceride metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04152 AMPK signaling pathway
hsa04920 Adipocytokine signaling pathway

Domain Information

InterPro Annotations

Accession Description
IPR000542 Acyltransferase ChoActase/COT/CPT

UniProt Annotations

Entry Information

Gene Name
carnitine palmitoyltransferase 1A (liver)
Protein Entry
CPT1A_HUMAN
UniProt ID
Q8WZ48
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50416-1; Sequence=Displayed; Name=2; IsoId=P50416-2; Sequence=VSP_012167;
Catalytic Activity Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine. {ECO
Disease Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM
Domain A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
Enzyme Regulation Inhibited by malonyl-CoA.
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. Plays an important role in triglyceride metabolism.
Induction Up-regulated by fatty acids.
Pathway Lipid metabolism; fatty acid beta-oxidation.
Similarity Belongs to the carnitine/choline acetyltransferase family.
Subcellular Location Mitochondrion outer membrane ; Multi- pass membrane protein {ECO
Subunit Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).
Tissue Specificity Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Identical and Related Proteins

Unique RefSeq proteins for LMP002018 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
73623030 RefSeq NP_001867 773 carnitine O-palmitoyltransferase 1, liver isoform isoform 1
73623028 RefSeq NP_001027017 756 carnitine O-palmitoyltransferase 1, liver isoform isoform 2

Identical Sequences to LMP002018 proteins

Reference Database Accession Length Protein Name
GI:73623028 GenBank AAX32217.1 756 carnitine palmitoyltransferase 1A [synthetic construct]
GI:73623028 GenBank AAX32218.1 756 carnitine palmitoyltransferase 1A [synthetic construct]
GI:73623028 GenBank ACP87576.1 756 Sequence 218 from patent US 7504211
GI:73623028 GenBank ACS08253.1 756 Sequence 218 from patent US 7537891
GI:73623030 GenBank AEN36173.1 773 Sequence 2101 from patent US 7998689
GI:73623030 GenBank AEN36175.1 773 Sequence 2103 from patent US 7998689
GI:73623030 GenBank AEN36176.1 773 Sequence 2104 from patent US 7998689
GI:73623030 GenBank AEW40624.1 773 Sequence 505 from patent US 8071302
GI:73623030 GenBank AEW40625.1 773 Sequence 506 from patent US 8071302
GI:73623028 GenBank AFO05735.1 756 Sequence 373 from patent US 8216786
GI:73623030 GenBank AFO05736.1 773 Sequence 374 from patent US 8216786
GI:73623028 GenBank AIC48556.1 756 CPT1A, partial [synthetic construct]

Related Sequences to LMP002018 proteins

Reference Database Accession Length Protein Name
GI:73623030 DBBJ BAG36955.1 773 unnamed protein product [Homo sapiens]
GI:73623030 GenBank ACM83782.1 805 Sequence 9280 from patent US 6812339
GI:73623028 GenBank ADA20279.1 773 Sequence 2103 from patent US 7608413
GI:73623028 GenBank ADA20280.1 773 Sequence 2104 from patent US 7608413
GI:73623028 GenBank ADS87629.1 773 Sequence 505 from patent US 7820380
GI:73623028 GenBank ADS87630.1 773 Sequence 506 from patent US 7820380
GI:73623028 GenBank ADT48826.1 773 Sequence 843 from patent US 7842467
GI:73623030 GenBank JAA15943.1 773 carnitine palmitoyltransferase 1A (liver) [Pan troglodytes]
GI:73623030 GenBank JAA41448.1 773 carnitine palmitoyltransferase 1A (liver) [Pan troglodytes]
GI:73623030 GenBank JAA41449.1 773 carnitine palmitoyltransferase 1A (liver) [Pan troglodytes]
GI:73623030 RefSeq XP_005273819.1 805 PREDICTED: carnitine O-palmitoyltransferase 1, liver isoform isoform X1 [Homo sapiens]
GI:73623028 RefSeq XP_005273820.1 788 PREDICTED: carnitine O-palmitoyltransferase 1, liver isoform isoform X2 [Homo sapiens]