UniProtKB - P50416 (CPT1A_HUMAN)
Carnitine O-palmitoyltransferase 1, liver isoform
CPT1A
Functioni
Catalytic activityi
Activity regulationi
Kineticsi
- KM=89 µM for carnitine1 Publication
- KM=106.5 µM for carnitine1 Publication
- KM=43 µM for palmitoyl-CoA1 Publication
- KM=82.8 µM for palmitoyl-CoA1 Publication
- Vmax=15 nmol/min/mg enzyme toward carnitine1 Publication
- Vmax=147.8 nmol/min/mg enzyme toward carnitine1 Publication
- Vmax=40 nmol/min/mg enzyme toward palmitoyl-CoA1 Publication
- Vmax=88.6 nmol/min/mg enzyme toward palmitoyl-CoA1 Publication
: fatty acid beta-oxidation Pathwayi
This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 473 | Proton acceptorBy similarity | 1 | |
Binding sitei | 589 | CarnitineBy similarity | 1 | |
Binding sitei | 602 | CarnitineBy similarity | 1 |
GO - Molecular functioni
- carnitine O-palmitoyltransferase activity Source: UniProtKB
- identical protein binding Source: Ensembl
- palmitoleoyltransferase activity Source: Ensembl
GO - Biological processi
- carnitine metabolic process Source: UniProtKB
- carnitine shuttle Source: Reactome
- cellular response to fatty acid Source: Ensembl
- circadian rhythm Source: Reactome
- eating behavior Source: Ensembl
- epithelial cell differentiation Source: UniProtKB
- fatty acid beta-oxidation Source: ProtInc
- fatty acid metabolic process Source: GO_Central
- glucose metabolic process Source: Ensembl
- long-chain fatty acid metabolic process Source: UniProtKB
- positive regulation of fatty acid beta-oxidation Source: Ensembl
- regulation of insulin secretion Source: Ensembl
- regulation of lipid metabolic process Source: Reactome
- regulation of lipid storage Source: Ensembl
- response to drug Source: Ensembl
- response to ethanol Source: Ensembl
- response to organic cyclic compound Source: Ensembl
- triglyceride metabolic process Source: Ensembl
Keywordsi
Molecular function | Acyltransferase, Transferase |
Biological process | Fatty acid metabolism, Lipid metabolism, Transport |
Enzyme and pathway databases
BioCyci | MetaCyc:HS03286-MONOMER |
BRENDAi | 2.3.1.21, 2681 |
PathwayCommonsi | P50416 |
Reactomei | R-HSA-1368082, RORA activates gene expression R-HSA-1989781, PPARA activates gene expression R-HSA-200425, Carnitine metabolism R-HSA-5362517, Signaling by Retinoic Acid |
SABIO-RKi | P50416 |
SIGNORi | P50416 |
UniPathwayi | UPA00659 |
Protein family/group databases
TCDBi | 4.C.2.1.3, the carnitine o-acyl transferase (carat) family |
Chemistry databases
SwissLipidsi | SLP:000001056 |
Names & Taxonomyi
Protein namesi | Recommended name: Carnitine O-palmitoyltransferase 1, liver isoform (EC:2.3.1.212 Publications)Short name: CPT1-L Alternative name(s): Carnitine O-palmitoyltransferase I, liver isoform Short name: CPT I Short name: CPTI-L Carnitine palmitoyltransferase 1A |
Gene namesi | Name:CPT1A Synonyms:CPT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000110090.12 |
HGNCi | HGNC:2328, CPT1A |
MIMi | 600528, gene |
neXtProti | NX_P50416 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Mitochondrion
- integral component of mitochondrial outer membrane Source: UniProtKB
- mitochondrial outer membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 2 – 47 | CytoplasmicSequence analysisAdd BLAST | 46 | |
Transmembranei | 48 – 73 | HelicalSequence analysisAdd BLAST | 26 | |
Topological domaini | 74 – 102 | Mitochondrial intermembraneSequence analysisAdd BLAST | 29 | |
Transmembranei | 103 – 122 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 123 – 773 | CytoplasmicSequence analysisAdd BLAST | 651 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Involvement in diseasei
Carnitine palmitoyltransferase 1A deficiency (CPT1AD)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020546 | 123 | R → C in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356775EnsemblClinVar. | 1 | |
Natural variantiVAR_020548 | 304 | C → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356789EnsemblClinVar. | 1 | |
Natural variantiVAR_020549 | 314 | T → I in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356776EnsemblClinVar. | 1 | |
Natural variantiVAR_046767 | 316 | R → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356796EnsemblClinVar. | 1 | |
Natural variantiVAR_046768 | 343 | F → V in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356783EnsemblClinVar. | 1 | |
Natural variantiVAR_020550 | 357 | R → W in CPT1AD; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs80356777EnsemblClinVar. | 1 | |
Natural variantiVAR_020551 | 360 | E → G in CPT1AD; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs80356787EnsemblClinVar. | 1 | |
Natural variantiVAR_020552 | 395 | Missing in CPT1AD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_020553 | 414 | A → V in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356790EnsemblClinVar. | 1 | |
Natural variantiVAR_020554 | 454 | D → G in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80356778EnsemblClinVar. | 1 | |
Natural variantiVAR_046769 | 465 | G → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356784EnsemblClinVar. | 1 | |
Natural variantiVAR_020555 | 479 | P → L in CPT1AD; decreased activity. 1 PublicationCorresponds to variant dbSNP:rs80356779EnsemblClinVar. | 1 | |
Natural variantiVAR_020556 | 484 | L → P in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356793EnsemblClinVar. | 1 | |
Natural variantiVAR_020557 | 498 | Y → C in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356791EnsemblClinVar. | 1 | |
Natural variantiVAR_020558 | 709 | G → E in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28936374EnsemblClinVar. | 1 | |
Natural variantiVAR_020559 | 710 | G → E in CPT1AD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80356780EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 1374 |
GeneReviewsi | CPT1A |
MalaCardsi | CPT1A |
MIMi | 255120, phenotype |
OpenTargetsi | ENSG00000110090 |
Orphaneti | 156, Carnitine palmitoyl transferase 1A deficiency |
PharmGKBi | PA26847 |
Miscellaneous databases
Pharosi | P50416, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1293194 |
DrugBanki | DB01016, Glyburide DB00583, Levocarnitine DB01074, Perhexiline |
DrugCentrali | P50416 |
Polymorphism and mutation databases
BioMutai | CPT1A |
DMDMi | 56405343 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000210159 | 2 – 773 | Carnitine O-palmitoyltransferase 1, liver isoformAdd BLAST | 772 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineBy similarity | 1 | |
Modified residuei | 282 | 3'-nitrotyrosineBy similarity | 1 | |
Modified residuei | 588 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 589 | 3'-nitrotyrosineBy similarity | 1 | |
Modified residuei | 604 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 741 | PhosphoserineBy similarity | 1 | |
Modified residuei | 747 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, Nitration, PhosphoproteinProteomic databases
EPDi | P50416 |
jPOSTi | P50416 |
MassIVEi | P50416 |
MaxQBi | P50416 |
PaxDbi | P50416 |
PeptideAtlasi | P50416 |
PRIDEi | P50416 |
ProteomicsDBi | 56220 [P50416-1] 56221 [P50416-2] |
PTM databases
iPTMneti | P50416 |
MetOSitei | P50416 |
PhosphoSitePlusi | P50416 |
SwissPalmi | P50416 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000110090, Expressed in colonic mucosa and 240 other tissues |
ExpressionAtlasi | P50416, baseline and differential |
Genevisiblei | P50416, HS |
Organism-specific databases
HPAi | ENSG00000110090, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer and homotrimer (By similarity).
Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1 (By similarity). Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).
By similarityGO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 107765, 97 interactors |
IntActi | P50416, 41 interactors |
MINTi | P50416 |
STRINGi | 9606.ENSP00000265641 |
Chemistry databases
BindingDBi | P50416 |
Miscellaneous databases
RNActi | P50416, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P50416 |
SMRi | P50416 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 555 – 567 | Coenzyme A bindingBy similarityAdd BLAST | 13 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3716, Eukaryota |
GeneTreei | ENSGT00960000186621 |
HOGENOMi | CLU_013513_2_1_1 |
InParanoidi | P50416 |
OMAi | ASHMWEN |
OrthoDBi | 559299at2759 |
PhylomeDBi | P50416 |
TreeFami | TF313836 |
Family and domain databases
Gene3Di | 3.30.559.40, 1 hit 3.30.559.70, 1 hit |
InterProi | View protein in InterPro IPR000542, Carn_acyl_trans IPR039551, Cho/carn_acyl_trans IPR042232, Cho/carn_acyl_trans_1 IPR042231, Cho/carn_acyl_trans_2 IPR032476, CPT_N |
PANTHERi | PTHR22589, PTHR22589, 1 hit |
Pfami | View protein in Pfam PF00755, Carn_acyltransf, 1 hit PF16484, CPT_N, 1 hit |
PROSITEi | View protein in PROSITE PS00439, ACYLTRANSF_C_1, 1 hit PS00440, ACYLTRANSF_C_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI
60 70 80 90 100
ITGVYPASPS SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ
110 120 130 140 150
TKNVVSGVLF GTGLWVALIV TMRYSLKVLL SYHGWMFTEH GKMSRATKIW
160 170 180 190 200
MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK DTVNRYLQSV RPLMKEEDFK
210 220 230 240 250
RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI YLRGRGPLMV
260 270 280 290 300
NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
310 320 330 340 350
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD
360 370 380 390 400
GRLLKPREME QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG
410 420 430 440 450
RGKNKQSLDA VEKAAFFVTL DETEEGYRSE DPDTSMDSYA KSLLHGRCYD
460 470 480 490 500
RWFDKSFTFV VFKNGKMGLN AEHSWADAPI VAHLWEYVMS IDSLQLGYAE
510 520 530 540 550
DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL ANDVDFHSFP
560 570 580 590 600
FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
610 620 630 640 650
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG
660 670 680 690 700
SGIDRHLFCL YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE
710 720 730 740 750
NNPEYVSSGG GFGPVADDGY GVSYILVGEN LINFHISSKF SCPETDSHRF
760 770
GRHLKEAMTD IITLFGLSSN SKK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BUV7 | H3BUV7_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1A | 134 | Annotation score: | ||
H3BMD2 | H3BMD2_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1A | 78 | Annotation score: | ||
H3BUJ0 | H3BUJ0_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1A | 93 | Annotation score: | ||
H3BP22 | H3BP22_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1A | 117 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 479 | P → Q in AAC41748 (PubMed:7892212).Curated | 1 | |
Sequence conflicti | 568 | A → T in AAC41748 (PubMed:7892212).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020546 | 123 | R → C in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356775EnsemblClinVar. | 1 | |
Natural variantiVAR_020547 | 275 | A → T3 PublicationsCorresponds to variant dbSNP:rs2229738EnsemblClinVar. | 1 | |
Natural variantiVAR_020548 | 304 | C → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356789EnsemblClinVar. | 1 | |
Natural variantiVAR_020549 | 314 | T → I in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356776EnsemblClinVar. | 1 | |
Natural variantiVAR_046767 | 316 | R → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356796EnsemblClinVar. | 1 | |
Natural variantiVAR_046768 | 343 | F → V in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356783EnsemblClinVar. | 1 | |
Natural variantiVAR_020550 | 357 | R → W in CPT1AD; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs80356777EnsemblClinVar. | 1 | |
Natural variantiVAR_020551 | 360 | E → G in CPT1AD; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs80356787EnsemblClinVar. | 1 | |
Natural variantiVAR_020552 | 395 | Missing in CPT1AD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_020553 | 414 | A → V in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356790EnsemblClinVar. | 1 | |
Natural variantiVAR_020554 | 454 | D → G in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80356778EnsemblClinVar. | 1 | |
Natural variantiVAR_046769 | 465 | G → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356784EnsemblClinVar. | 1 | |
Natural variantiVAR_020555 | 479 | P → L in CPT1AD; decreased activity. 1 PublicationCorresponds to variant dbSNP:rs80356779EnsemblClinVar. | 1 | |
Natural variantiVAR_020556 | 484 | L → P in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356793EnsemblClinVar. | 1 | |
Natural variantiVAR_020557 | 498 | Y → C in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356791EnsemblClinVar. | 1 | |
Natural variantiVAR_020558 | 709 | G → E in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28936374EnsemblClinVar. | 1 | |
Natural variantiVAR_020559 | 710 | G → E in CPT1AD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80356780EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012167 | 746 – 773 | DSHRF…SNSKK → GIISQGPSSDT in isoform 2. 2 PublicationsAdd BLAST | 28 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L39211 mRNA Translation: AAC41748.1 AJ420747 Genomic DNA Translation: CAD12625.1 AJ420748 Genomic DNA Translation: CAD59673.1 BT009791 mRNA Translation: AAP88793.1 BC000185 mRNA Translation: AAH00185.1 |
CCDSi | CCDS31624.1 [P50416-2] CCDS8185.1 [P50416-1] |
PIRi | I59351 |
RefSeqi | NP_001027017.1, NM_001031847.2 [P50416-2] NP_001867.2, NM_001876.3 [P50416-1] XP_016872709.1, XM_017017220.1 [P50416-1] |
Genome annotation databases
Ensembli | ENST00000265641; ENSP00000265641; ENSG00000110090 [P50416-1] ENST00000376618; ENSP00000365803; ENSG00000110090 [P50416-2] ENST00000539743; ENSP00000446108; ENSG00000110090 [P50416-1] ENST00000540367; ENSP00000439084; ENSG00000110090 [P50416-2] |
GeneIDi | 1374 |
KEGGi | hsa:1374 |
UCSCi | uc001oof.5, human [P50416-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L39211 mRNA Translation: AAC41748.1 AJ420747 Genomic DNA Translation: CAD12625.1 AJ420748 Genomic DNA Translation: CAD59673.1 BT009791 mRNA Translation: AAP88793.1 BC000185 mRNA Translation: AAH00185.1 |
CCDSi | CCDS31624.1 [P50416-2] CCDS8185.1 [P50416-1] |
PIRi | I59351 |
RefSeqi | NP_001027017.1, NM_001031847.2 [P50416-2] NP_001867.2, NM_001876.3 [P50416-1] XP_016872709.1, XM_017017220.1 [P50416-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2LE3 | NMR | - | A | 1-42 | [»] | |
BMRBi | P50416 | |||||
SMRi | P50416 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107765, 97 interactors |
IntActi | P50416, 41 interactors |
MINTi | P50416 |
STRINGi | 9606.ENSP00000265641 |
Chemistry databases
BindingDBi | P50416 |
ChEMBLi | CHEMBL1293194 |
DrugBanki | DB01016, Glyburide DB00583, Levocarnitine DB01074, Perhexiline |
DrugCentrali | P50416 |
SwissLipidsi | SLP:000001056 |
Protein family/group databases
TCDBi | 4.C.2.1.3, the carnitine o-acyl transferase (carat) family |
PTM databases
iPTMneti | P50416 |
MetOSitei | P50416 |
PhosphoSitePlusi | P50416 |
SwissPalmi | P50416 |
Polymorphism and mutation databases
BioMutai | CPT1A |
DMDMi | 56405343 |
Proteomic databases
EPDi | P50416 |
jPOSTi | P50416 |
MassIVEi | P50416 |
MaxQBi | P50416 |
PaxDbi | P50416 |
PeptideAtlasi | P50416 |
PRIDEi | P50416 |
ProteomicsDBi | 56220 [P50416-1] 56221 [P50416-2] |
Protocols and materials databases
Antibodypediai | 1640, 410 antibodies |
DNASUi | 1374 |
Genome annotation databases
Ensembli | ENST00000265641; ENSP00000265641; ENSG00000110090 [P50416-1] ENST00000376618; ENSP00000365803; ENSG00000110090 [P50416-2] ENST00000539743; ENSP00000446108; ENSG00000110090 [P50416-1] ENST00000540367; ENSP00000439084; ENSG00000110090 [P50416-2] |
GeneIDi | 1374 |
KEGGi | hsa:1374 |
UCSCi | uc001oof.5, human [P50416-1] |
Organism-specific databases
CTDi | 1374 |
DisGeNETi | 1374 |
EuPathDBi | HostDB:ENSG00000110090.12 |
GeneCardsi | CPT1A |
GeneReviewsi | CPT1A |
HGNCi | HGNC:2328, CPT1A |
HPAi | ENSG00000110090, Low tissue specificity |
MalaCardsi | CPT1A |
MIMi | 255120, phenotype 600528, gene |
neXtProti | NX_P50416 |
OpenTargetsi | ENSG00000110090 |
Orphaneti | 156, Carnitine palmitoyl transferase 1A deficiency |
PharmGKBi | PA26847 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3716, Eukaryota |
GeneTreei | ENSGT00960000186621 |
HOGENOMi | CLU_013513_2_1_1 |
InParanoidi | P50416 |
OMAi | ASHMWEN |
OrthoDBi | 559299at2759 |
PhylomeDBi | P50416 |
TreeFami | TF313836 |
Enzyme and pathway databases
UniPathwayi | UPA00659 |
BioCyci | MetaCyc:HS03286-MONOMER |
BRENDAi | 2.3.1.21, 2681 |
PathwayCommonsi | P50416 |
Reactomei | R-HSA-1368082, RORA activates gene expression R-HSA-1989781, PPARA activates gene expression R-HSA-200425, Carnitine metabolism R-HSA-5362517, Signaling by Retinoic Acid |
SABIO-RKi | P50416 |
SIGNORi | P50416 |
Miscellaneous databases
BioGRID-ORCSi | 1374, 4 hits in 845 CRISPR screens |
ChiTaRSi | CPT1A, human |
GenomeRNAii | 1374 |
Pharosi | P50416, Tchem |
PROi | PR:P50416 |
RNActi | P50416, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110090, Expressed in colonic mucosa and 240 other tissues |
ExpressionAtlasi | P50416, baseline and differential |
Genevisiblei | P50416, HS |
Family and domain databases
Gene3Di | 3.30.559.40, 1 hit 3.30.559.70, 1 hit |
InterProi | View protein in InterPro IPR000542, Carn_acyl_trans IPR039551, Cho/carn_acyl_trans IPR042232, Cho/carn_acyl_trans_1 IPR042231, Cho/carn_acyl_trans_2 IPR032476, CPT_N |
PANTHERi | PTHR22589, PTHR22589, 1 hit |
Pfami | View protein in Pfam PF00755, Carn_acyltransf, 1 hit PF16484, CPT_N, 1 hit |
PROSITEi | View protein in PROSITE PS00439, ACYLTRANSF_C_1, 1 hit PS00440, ACYLTRANSF_C_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CPT1A_HUMAN | |
Accessioni | P50416Primary (citable) accession number: P50416 Secondary accession number(s): Q8TCU0, Q9BWK0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | December 7, 2004 | |
Last modified: | December 2, 2020 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations