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Protein

Carnitine O-palmitoyltransferase 2, mitochondrial

Gene

CPT2

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

<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 <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 sitei372Proton 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 sitei486CarnitineBy similarity1
Binding sitei488CarnitineBy similarity1
Binding sitei499CarnitineBy 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

GO - Biological processi

  • carnitine shuttle Source: Reactome
  • fatty acid beta-oxidation Source: GO_Central
  • positive regulation of cold-induced thermogenesis Source: YuBioLab
  • regulation of lipid metabolic process Source: Reactome

<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:HS08187-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-1989781 PPARA activates gene expression
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix

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

More...
UniPathwayi
UPA00659

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001044

<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 2, mitochondrial (EC:2.3.1.21)
Alternative name(s):
Carnitine palmitoyltransferase II
Short name:
CPT II
<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:CPT2
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000157184.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2330 CPT2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600650 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P23786

<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; 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 domaini26 – 178Mitochondrial matrixBy similarityAdd BLAST153
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei179 – 208Note=Mitochondrial inner membraneBy similarityAdd BLAST30
Topological domaini209 – 658Mitochondrial matrixBy similarityAdd BLAST450

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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 2 deficiency, myopathic, stress-induced (CPT2D)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.
See also OMIM:255110
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_00139150P → H in CPT2D; muscular type. 2 PublicationsCorresponds to variant dbSNP:rs28936375EnsemblClinVar.1
Natural variantiVAR_001392113S → L in CPT2D; muscular form; frequent mutation. 4 PublicationsCorresponds to variant dbSNP:rs74315294EnsemblClinVar.1
Natural variantiVAR_020540151R → Q in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs515726177EnsemblClinVar.1
Natural variantiVAR_001393174E → K in CPT2D; muscular type. 1 PublicationCorresponds to variant dbSNP:rs28936674EnsemblClinVar.1
Natural variantiVAR_020541210Y → D in CPT2D. 1 Publication1
Natural variantiVAR_037976213D → G in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315300EnsemblClinVar.1
Natural variantiVAR_007966214M → T in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs515726174EnsemblClinVar.1
Natural variantiVAR_007967227P → L in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs74315298EnsemblClinVar.1
Natural variantiVAR_020542296R → Q in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs764849762Ensembl.1
Natural variantiVAR_001396383F → Y in CPT2D; hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs74315295EnsemblClinVar.1
Natural variantiVAR_007968448F → L in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315297EnsemblClinVar.1
Natural variantiVAR_007969479Y → F in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs749895856EnsemblClinVar.1
Natural variantiVAR_007970503R → C in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315296EnsemblClinVar.1
Natural variantiVAR_007971549G → D in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs186044004EnsemblClinVar.1
Natural variantiVAR_020543550Q → R in CPT2D. 1 Publication1
Natural variantiVAR_001397553D → N in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs28936376EnsemblClinVar.1
Natural variantiVAR_020544600G → R in CPT2D. 1 Publication1
Natural variantiVAR_020545604P → S in CPT2D. 1 Publication1
Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.
See also OMIM:600649
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001398628Y → S in CPT2DI; hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs28936673EnsemblClinVar.1
Natural variantiVAR_001399631R → C in CPT2DI; early-onset hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs74315293EnsemblClinVar.1
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2DLN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive.
See also OMIM:608836
Encephalopathy, acute, infection-induced, 4 (IIAE4)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. CPT2 polymorphic variants do not cause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic most of the time. However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855).1 Publication
Disease descriptionA severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder.
See also OMIM:614212

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1376

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

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GeneReviewsi
CPT2

MalaCards human disease database

More...
MalaCardsi
CPT2
MIMi255110 phenotype
600649 phenotype
608836 phenotype
614212 phenotype

Open Targets

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OpenTargetsi
ENSG00000157184

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

More...
Orphaneti
263524 Acute necrotizing encephalopathy of childhood
228302 Carnitine palmitoyl transferase II deficiency, myopathic form
228308 Carnitine palmitoyl transferase II deficiency, neonatal form
228305 Carnitine palmitoyl transferase II deficiency, severe infantile form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26849

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3238

Drug and drug target database

More...
DrugBanki
DB00583 L-Carnitine
DB01074 Perhexiline

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CPT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
416836

<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 ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 25MitochondrionAdd BLAST25
<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_000000442426 – 658Carnitine O-palmitoyltransferase 2, mitochondrialAdd BLAST633

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 residuei69N6-succinyllysineBy similarity1
Modified residuei79N6-acetyllysineBy similarity1
Modified residuei85N6-succinyllysineBy similarity1
Modified residuei239N6-acetyllysine; alternateBy similarity1
Modified residuei239N6-succinyllysine; alternateBy similarity1
Modified residuei305N6-acetyllysineBy similarity1
Modified residuei424N6-succinyllysineBy similarity1
Modified residuei439N6-succinyllysineBy similarity1
Modified residuei510N6-acetyllysine; alternateBy similarity1
Modified residuei510N6-succinyllysine; alternateBy similarity1
Modified residuei544N6-acetyllysine; alternateBy similarity1
Modified residuei544N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P23786

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P23786

MaxQB - The MaxQuant DataBase

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MaxQBi
P23786

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

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PaxDbi
P23786

PeptideAtlas

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PeptideAtlasi
P23786

PRoteomics IDEntifications database

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PRIDEi
P23786

ProteomicsDB human proteome resource

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ProteomicsDBi
54164

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00012912

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P23786

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

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PhosphoSitePlusi
P23786

SwissPalm database of S-palmitoylation events

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SwissPalmi
P23786

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000157184 Expressed in 204 organ(s), highest expression level in quadriceps femoris

CleanEx database of gene expression profiles

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CleanExi
HS_CPT2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P23786 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P23786 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028201
HPA028202
HPA028214

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107767, 36 interactors

Protein interaction database and analysis system

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IntActi
P23786, 8 interactors

Molecular INTeraction database

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MINTi
P23786

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360541

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P23786

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P23786

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

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SMRi
P23786

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Regioni452 – 464Coenzyme A bindingBy similarityAdd BLAST13

<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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3719 Eukaryota
ENOG410XNZ9 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153610

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007446

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG098001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P23786

KEGG Orthology (KO)

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KOi
K08766

Database of Orthologous Groups

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OrthoDBi
559299at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P23786

TreeFam database of animal gene trees

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TreeFami
TF315202

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans

The PANTHER Classification System

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PANTHERi
PTHR22589 PTHR22589, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00755 Carn_acyltransf, 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>Sequence (1+)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 has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P23786-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP
60 70 80 90 100
RLPIPKLEDT IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV
110 120 130 140 150
ALDKQNKHTS YISGPWFDMY LSARDSVVLN FNPFMAFNPD PKSEYNDQLT
160 170 180 190 200
RATNMTVSAI RFLKTLRAGL LEPEVFHLNP AKSDTITFKR LIRFVPSSLS
210 220 230 240 250
WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA RHLLVLRKGN
260 270 280 290 300
FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA
310 320 330 340 350
ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR
360 370 380 390 400
WFDKSFNLII AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ
410 420 430 440 450
SQPATTDSTV TVQKLNFELT DALKTGITAA KEKFDATMKT LTIDCVQFQR
460 470 480 490 500
GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG QTVATYESCS TAAFKHGRTE
510 520 530 540 550
TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG QLTKEAAMGQ
560 570 580 590 600
GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG
610 620 630 640 650
GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA

LEGKSIKS
Length:658
Mass (Da):73,777
Last modified:October 1, 1993 - 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:i6444B75ACD57140F
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTB8A0A1B0GTB8_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
635Annotation score:

Annotation score:2 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>
A0A1B0GVF3A0A1B0GVF3_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
670Annotation score:

Annotation score:2 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>
A0A1B0GWC0A0A1B0GWC0_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
647Annotation score:

Annotation score:2 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>
A0A1B0GV75A0A1B0GV75_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
598Annotation score:

Annotation score:2 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>
A0A1B0GTM0A0A1B0GTM0_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
223Annotation 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>
A0A1B0GUD9A0A1B0GUD9_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
81Annotation 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>
A0A1B0GUB8A0A1B0GUB8_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
72Annotation 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>
A0A1B0GTL9A0A1B0GTL9_HUMAN
Carnitine O-palmitoyltransferase 2,...
CPT2
54Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00139150P → H in CPT2D; muscular type. 2 PublicationsCorresponds to variant dbSNP:rs28936375EnsemblClinVar.1
Natural variantiVAR_001392113S → L in CPT2D; muscular form; frequent mutation. 4 PublicationsCorresponds to variant dbSNP:rs74315294EnsemblClinVar.1
Natural variantiVAR_020540151R → Q in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs515726177EnsemblClinVar.1
Natural variantiVAR_001393174E → K in CPT2D; muscular type. 1 PublicationCorresponds to variant dbSNP:rs28936674EnsemblClinVar.1
Natural variantiVAR_020541210Y → D in CPT2D. 1 Publication1
Natural variantiVAR_037976213D → G in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315300EnsemblClinVar.1
Natural variantiVAR_007966214M → T in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs515726174EnsemblClinVar.1
Natural variantiVAR_007967227P → L in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs74315298EnsemblClinVar.1
Natural variantiVAR_020542296R → Q in CPT2D. 2 PublicationsCorresponds to variant dbSNP:rs764849762Ensembl.1
Natural variantiVAR_001394352F → C Polymorphism associated with susceptibility to IIAE4; 3-fold decrease of affinity for L-carnitine; lower thermal stability compared to wild-type. 4 PublicationsCorresponds to variant dbSNP:rs2229291EnsemblClinVar.1
Natural variantiVAR_001395368V → I Common polymorphism associated with susceptibility to IIAE4; no effect on activity; does not affect affinity for L-carnitine; lower thermal stability compared to wild-type. 6 PublicationsCorresponds to variant dbSNP:rs1799821EnsemblClinVar.1
Natural variantiVAR_001396383F → Y in CPT2D; hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs74315295EnsemblClinVar.1
Natural variantiVAR_007968448F → L in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315297EnsemblClinVar.1
Natural variantiVAR_007969479Y → F in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs749895856EnsemblClinVar.1
Natural variantiVAR_007970503R → C in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs74315296EnsemblClinVar.1
Natural variantiVAR_066567504P → L in a patient with IIAE4. 1 PublicationCorresponds to variant dbSNP:rs368311455Ensembl.1
Natural variantiVAR_007971549G → D in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs186044004EnsemblClinVar.1
Natural variantiVAR_020543550Q → R in CPT2D. 1 Publication1
Natural variantiVAR_001397553D → N in CPT2D. 1 PublicationCorresponds to variant dbSNP:rs28936376EnsemblClinVar.1
Natural variantiVAR_011741588S → C. Corresponds to variant dbSNP:rs1871748EnsemblClinVar.1
Natural variantiVAR_020544600G → R in CPT2D. 1 Publication1
Natural variantiVAR_020545604P → S in CPT2D. 1 Publication1
Natural variantiVAR_066568605V → L in a patient with IIAE4. 1 PublicationCorresponds to variant dbSNP:rs751557097Ensembl.1
Natural variantiVAR_001398628Y → S in CPT2DI; hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs28936673EnsemblClinVar.1
Natural variantiVAR_001399631R → C in CPT2DI; early-onset hepatocardiomuscular form. 1 PublicationCorresponds to variant dbSNP:rs74315293EnsemblClinVar.1
Natural variantiVAR_001400647M → V Common polymorphism; confirmed at protein level. 7 PublicationsCorresponds to variant dbSNP:rs1799822EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U09648 mRNA Translation: AAB60383.1
M58581 mRNA Translation: AAB59462.1
U09646
, U09642, U09643, U09644, U09645 Genomic DNA Translation: AAB60382.1
AK312687 mRNA Translation: BAG35567.1
AL606760 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06753.1
BC002445 mRNA Translation: AAH02445.1
BC005172 mRNA Translation: AAH05172.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS575.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A39018

NCBI Reference Sequences

More...
RefSeqi
NP_000089.1, NM_000098.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.713535

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371486; ENSP00000360541; ENSG00000157184

Database of genes from NCBI RefSeq genomes

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GeneIDi
1376

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1376

UCSC genome browser

More...
UCSCi
uc001cvb.4 human

Keywords - Coding sequence diversityi

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
U09648 mRNA Translation: AAB60383.1
M58581 mRNA Translation: AAB59462.1
U09646
, U09642, U09643, U09644, U09645 Genomic DNA Translation: AAB60382.1
AK312687 mRNA Translation: BAG35567.1
AL606760 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06753.1
BC002445 mRNA Translation: AAH02445.1
BC005172 mRNA Translation: AAH05172.1
CCDSiCCDS575.1
PIRiA39018
RefSeqiNP_000089.1, NM_000098.2
UniGeneiHs.713535

3D structure databases

ProteinModelPortaliP23786
SMRiP23786
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107767, 36 interactors
IntActiP23786, 8 interactors
MINTiP23786
STRINGi9606.ENSP00000360541

Chemistry databases

BindingDBiP23786
ChEMBLiCHEMBL3238
DrugBankiDB00583 L-Carnitine
DB01074 Perhexiline
SwissLipidsiSLP:000001044

PTM databases

iPTMnetiP23786
PhosphoSitePlusiP23786
SwissPalmiP23786

Polymorphism and mutation databases

BioMutaiCPT2
DMDMi416836

2D gel databases

REPRODUCTION-2DPAGEiIPI00012912

Proteomic databases

EPDiP23786
jPOSTiP23786
MaxQBiP23786
PaxDbiP23786
PeptideAtlasiP23786
PRIDEiP23786
ProteomicsDBi54164

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371486; ENSP00000360541; ENSG00000157184
GeneIDi1376
KEGGihsa:1376
UCSCiuc001cvb.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1376
DisGeNETi1376
EuPathDBiHostDB:ENSG00000157184.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CPT2
GeneReviewsiCPT2
HGNCiHGNC:2330 CPT2
HPAiHPA028201
HPA028202
HPA028214
MalaCardsiCPT2
MIMi255110 phenotype
600649 phenotype
600650 gene
608836 phenotype
614212 phenotype
neXtProtiNX_P23786
OpenTargetsiENSG00000157184
Orphaneti263524 Acute necrotizing encephalopathy of childhood
228302 Carnitine palmitoyl transferase II deficiency, myopathic form
228308 Carnitine palmitoyl transferase II deficiency, neonatal form
228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
PharmGKBiPA26849

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3719 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00940000153610
HOGENOMiHOG000007446
HOVERGENiHBG098001
InParanoidiP23786
KOiK08766
OrthoDBi559299at2759
PhylomeDBiP23786
TreeFamiTF315202

Enzyme and pathway databases

UniPathwayi
UPA00659

BioCyciMetaCyc:HS08187-MONOMER
BRENDAi2.3.1.21 2681
ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix

Miscellaneous databases

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

More...
ChiTaRSi
CPT2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Carnitine_palmitoyltransferase_II

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

More...
GenomeRNAii
1376

Protein Ontology

More...
PROi
PR:P23786

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157184 Expressed in 204 organ(s), highest expression level in quadriceps femoris
CleanExiHS_CPT2
ExpressionAtlasiP23786 baseline and differential
GenevisibleiP23786 HS

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 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 nameiCPT2_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: P23786
Secondary accession number(s): B2R6S0, Q5SW68, Q9BQ26
<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: November 1, 1991
Last sequence update: October 1, 1993
Last modified: January 16, 2019
This is version 192 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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