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UniProtKB - P50416 (CPT1A_HUMAN)

Entry version 185 (08 May 2019)
Sequence version 2 (07 Dec 2004)
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Protein

Carnitine O-palmitoyltransferase 1, liver isoform

Gene

CPT1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by malonyl-CoA.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fatty acid beta-oxidation

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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei473Proton acceptorBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei589CarnitineBy similarity1
Binding sitei602CarnitineBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processFatty acid metabolism, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS03286-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.21 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1368082 RORA activates gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-5362517 Signaling by Retinoic Acid

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P50416

SIGNOR Signaling Network Open Resource

More...SIGNORi		P50416

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi
UPA00659

Protein family/group databases

Transport Classification Database

More...TCDBi		4.C.2.1.3 the carnitine o-acyl transferase (crat) family

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001056

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Carnitine O-palmitoyltransferase 1, liver isoform (EC:2.3.1.21)
Short name:
CPT1-L
Alternative name(s):
Carnitine O-palmitoyltransferase I, liver isoform
Short name:
CPT I
Short name:
CPTI-L
Carnitine palmitoyltransferase 1A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CPT1A
Synonyms:CPT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2328 CPT1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600528 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P50416

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 47CytoplasmicSequence analysisAdd BLAST46
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei48 – 73HelicalSequence analysisAdd BLAST26
Topological domaini74 – 102Mitochondrial intermembraneSequence analysisAdd BLAST29
Transmembranei103 – 122HelicalSequence analysisAdd BLAST20
Topological domaini123 – 773CytoplasmicSequence analysisAdd BLAST651

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Carnitine palmitoyltransferase 1A deficiency (CPT1AD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:255120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_020546123R → C in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356775EnsemblClinVar.1
Natural variantiVAR_020548304C → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356789EnsemblClinVar.1
Natural variantiVAR_020549314T → I in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356776EnsemblClinVar.1
Natural variantiVAR_046767316R → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356796EnsemblClinVar.1
Natural variantiVAR_046768343F → V in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356783EnsemblClinVar.1
Natural variantiVAR_020550357R → W in CPT1AD; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs80356777EnsemblClinVar.1
Natural variantiVAR_020551360E → G in CPT1AD; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs80356787EnsemblClinVar.1
Natural variantiVAR_020552395Missing in CPT1AD; loss of activity. 1 Publication1
Natural variantiVAR_020553414A → V in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356790EnsemblClinVar.1
Natural variantiVAR_020554454D → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356778EnsemblClinVar.1
Natural variantiVAR_046769465G → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356784EnsemblClinVar.1
Natural variantiVAR_020555479P → L in CPT1AD; decreased activity. 1 PublicationCorresponds to variant dbSNP:rs80356779EnsemblClinVar.1
Natural variantiVAR_020556484L → P in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356793EnsemblClinVar.1
Natural variantiVAR_020557498Y → C in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356791EnsemblClinVar.1
Natural variantiVAR_020558709G → E in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28936374EnsemblClinVar.1
Natural variantiVAR_020559710G → E in CPT1AD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80356780EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1374

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CPT1A

MalaCards human disease database

More...MalaCardsi		CPT1A
MIMi255120 phenotype

Open Targets

More...OpenTargetsi		ENSG00000110090

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		156 Carnitine palmitoyl transferase 1A deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26847

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1293194

Drug and drug target database

More...DrugBanki		DB01016 Glyburide
DB00583 L-Carnitine
DB01074 Perhexiline

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CPT1A

Domain mapping of disease mutations (DMDM)

More...DMDMi		56405343

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002101592 – 773Carnitine O-palmitoyltransferase 1, liver isoformAdd BLAST772

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineBy similarity1
Modified residuei282Nitrated tyrosineBy similarity1
Modified residuei588PhosphothreonineBy similarity1
Modified residuei589Nitrated tyrosineBy similarity1
Modified residuei604PhosphothreonineBy similarity1
Modified residuei741PhosphoserineBy similarity1
Modified residuei747PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Nitration, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P50416

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P50416

MaxQB - The MaxQuant DataBase

More...MaxQBi		P50416

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P50416

PeptideAtlas

More...PeptideAtlasi		P50416

PRoteomics IDEntifications database

More...PRIDEi		P50416

ProteomicsDB human proteome resource

More...ProteomicsDBi		56220
56221 [P50416-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P50416

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P50416

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P50416

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Strong expression in kidney and heart, and lower in liver and skeletal muscle.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by fatty acids.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110090 Expressed in 227 organ(s), highest expression level in colonic mucosa

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P50416 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P50416 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA008835

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107765, 62 interactors

Protein interaction database and analysis system

More...IntActi		P50416, 32 interactors

Molecular INTeraction database

More...MINTi		P50416

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265641

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P50416

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1773
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LE3NMR-A1-42[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P50416

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni555 – 567Coenzyme A bindingBy similarityAdd BLAST13

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the carnitine/choline acetyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3717 Eukaryota
ENOG410XNZ9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182629

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233542

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P50416

KEGG Orthology (KO)

More...KOi		K08765

Identification of Orthologs from Complete Genome Data

More...OMAi		ASHMWEN

Database of Orthologous Groups

More...OrthoDBi		559299at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P50416

TreeFam database of animal gene trees

More...TreeFami		TF313836

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
IPR032476 CPT_N

The PANTHER Classification System

More...PANTHERi		PTHR22589 PTHR22589, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PF16484 CPT_N, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50416-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        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
Length:773
Mass (Da):88,368
Last modified:December 7, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE5DC9141B6301947
GO
Isoform 2 (identifier: P50416-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     746-773: DSHRFGRHLKEAMTDIITLFGLSSNSKK → GIISQGPSSDT

Show »
Length:756
Mass (Da):86,239
Checksum:iC7B0ED8A26285110
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUV7H3BUV7_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1A
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BMD2H3BMD2_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1A
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BP22H3BP22_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1A
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BUJ0H3BUJ0_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1A
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti479P → Q in AAC41748 (PubMed:7892212).Curated1
Sequence conflicti568A → T in AAC41748 (PubMed:7892212).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020546123R → C in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356775EnsemblClinVar.1
Natural variantiVAR_020547275A → T3 PublicationsCorresponds to variant dbSNP:rs2229738EnsemblClinVar.1
Natural variantiVAR_020548304C → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356789EnsemblClinVar.1
Natural variantiVAR_020549314T → I in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356776EnsemblClinVar.1
Natural variantiVAR_046767316R → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356796EnsemblClinVar.1
Natural variantiVAR_046768343F → V in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356783EnsemblClinVar.1
Natural variantiVAR_020550357R → W in CPT1AD; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs80356777EnsemblClinVar.1
Natural variantiVAR_020551360E → G in CPT1AD; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs80356787EnsemblClinVar.1
Natural variantiVAR_020552395Missing in CPT1AD; loss of activity. 1 Publication1
Natural variantiVAR_020553414A → V in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356790EnsemblClinVar.1
Natural variantiVAR_020554454D → G in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356778EnsemblClinVar.1
Natural variantiVAR_046769465G → W in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356784EnsemblClinVar.1
Natural variantiVAR_020555479P → L in CPT1AD; decreased activity. 1 PublicationCorresponds to variant dbSNP:rs80356779EnsemblClinVar.1
Natural variantiVAR_020556484L → P in CPT1AD. 1 PublicationCorresponds to variant dbSNP:rs80356793EnsemblClinVar.1
Natural variantiVAR_020557498Y → C in CPT1AD; decreased activity. 2 PublicationsCorresponds to variant dbSNP:rs80356791EnsemblClinVar.1
Natural variantiVAR_020558709G → E in CPT1AD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28936374EnsemblClinVar.1
Natural variantiVAR_020559710G → E in CPT1AD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80356780EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_012167746 – 773DSHRF…SNSKK → GIISQGPSSDT in isoform 2. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31624.1 [P50416-2]
CCDS8185.1 [P50416-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I59351

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265641; ENSP00000265641; ENSG00000110090 [P50416-1]
ENST00000376618; ENSP00000365803; ENSG00000110090 [P50416-2]
ENST00000539743; ENSP00000446108; ENSG00000110090 [P50416-1]
ENST00000540367; ENSP00000439084; ENSG00000110090 [P50416-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1374

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1374

UCSC genome browser

More...UCSCi		uc001oof.5 human [P50416-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS31624.1 [P50416-2]
CCDS8185.1 [P50416-1]
PIRiI59351
RefSeqiNP_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 entryMethodResolution (Å)ChainPositionsPDBsum
2LE3NMR-A1-42[»]
SMRiP50416
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107765, 62 interactors
IntActiP50416, 32 interactors
MINTiP50416
STRINGi9606.ENSP00000265641

Chemistry databases

BindingDBiP50416
ChEMBLiCHEMBL1293194
DrugBankiDB01016 Glyburide
DB00583 L-Carnitine
DB01074 Perhexiline
SwissLipidsiSLP:000001056

Protein family/group databases

TCDBi4.C.2.1.3 the carnitine o-acyl transferase (crat) family

PTM databases

iPTMnetiP50416
PhosphoSitePlusiP50416
SwissPalmiP50416

Polymorphism and mutation databases

BioMutaiCPT1A
DMDMi56405343

Proteomic databases

EPDiP50416
jPOSTiP50416
MaxQBiP50416
PaxDbiP50416
PeptideAtlasiP50416
PRIDEiP50416
ProteomicsDBi56220
56221 [P50416-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1374
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265641; ENSP00000265641; ENSG00000110090 [P50416-1]
ENST00000376618; ENSP00000365803; ENSG00000110090 [P50416-2]
ENST00000539743; ENSP00000446108; ENSG00000110090 [P50416-1]
ENST00000540367; ENSP00000439084; ENSG00000110090 [P50416-2]
GeneIDi1374
KEGGihsa:1374
UCSCiuc001oof.5 human [P50416-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1374
DisGeNETi1374

GeneCards: human genes, protein and diseases

More...GeneCardsi		CPT1A
GeneReviewsiCPT1A
HGNCiHGNC:2328 CPT1A
HPAiHPA008835
MalaCardsiCPT1A
MIMi255120 phenotype
600528 gene
neXtProtiNX_P50416
OpenTargetsiENSG00000110090
Orphaneti156 Carnitine palmitoyl transferase 1A deficiency
PharmGKBiPA26847

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00950000182629
HOGENOMiHOG000233542
InParanoidiP50416
KOiK08765
OMAiASHMWEN
OrthoDBi559299at2759
PhylomeDBiP50416
TreeFamiTF313836

Enzyme and pathway databases

UniPathwayi
UPA00659

BioCyciMetaCyc:HS03286-MONOMER
BRENDAi2.3.1.21 2681
ReactomeiR-HSA-1368082 RORA activates gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-5362517 Signaling by Retinoic Acid
SABIO-RKiP50416
SIGNORiP50416

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CPT1A human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1374

Protein Ontology

More...PROi		PR:P50416

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110090 Expressed in 227 organ(s), highest expression level in colonic mucosa
ExpressionAtlasiP50416 baseline and differential
GenevisibleiP50416 HS

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
IPR032476 CPT_N
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PF16484 CPT_N, 1 hit
PROSITEiView protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCPT1A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50416
Secondary accession number(s): Q8TCU0, Q9BWK0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 7, 2004
Last modified: May 8, 2019
This is version 185 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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