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P23786

- CPT2_HUMAN

UniProt

P23786 - CPT2_HUMAN

Protein

Carnitine O-palmitoyltransferase 2, mitochondrial

Gene

CPT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 2 (01 Oct 1993)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei372 – 3721Proton acceptorBy similarity
    Binding sitei486 – 4861CarnitineBy similarity
    Binding sitei488 – 4881CarnitineBy similarity
    Binding sitei499 – 4991CarnitineBy similarity

    GO - Molecular functioni

    1. carnitine O-palmitoyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. carnitine shuttle Source: Reactome
    2. cellular lipid metabolic process Source: Reactome
    3. fatty acid beta-oxidation Source: UniProtKB-UniPathway
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Fatty acid metabolism, Lipid metabolism, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08187-MONOMER.
    BRENDAi2.3.1.21. 2681.
    ReactomeiREACT_11082. Import of palmitoyl-CoA into the mitochondrial matrix.
    REACT_116145. PPARA activates gene expression.
    UniPathwayiUPA00659.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Carnitine O-palmitoyltransferase 2, mitochondrial (EC:2.3.1.21)
    Alternative name(s):
    Carnitine palmitoyltransferase II
    Short name:
    CPT II
    Gene namesi
    Name:CPT2
    Synonyms:CPT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2330. CPT2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: UniProtKB
    2. mitochondrion Source: HPA
    3. nucleolus Source: HPA
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501P → H in CPT2D; muscular type. 2 Publications
    Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
    VAR_001391
    Natural varianti113 – 1131S → L in CPT2D; muscular form; frequent mutation. 4 Publications
    Corresponds to variant rs74315294 [ dbSNP | Ensembl ].
    VAR_001392
    Natural varianti151 – 1511R → Q in CPT2D. 2 Publications
    VAR_020540
    Natural varianti174 – 1741E → K in CPT2D; muscular type. 1 Publication
    Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
    VAR_001393
    Natural varianti210 – 2101Y → D in CPT2D. 1 Publication
    VAR_020541
    Natural varianti213 – 2131D → G in CPT2D. 1 Publication
    VAR_037976
    Natural varianti214 – 2141M → T in CPT2D. 1 Publication
    VAR_007966
    Natural varianti227 – 2271P → L in CPT2D. 2 Publications
    VAR_007967
    Natural varianti296 – 2961R → Q in CPT2D. 2 Publications
    VAR_020542
    Natural varianti383 – 3831F → Y in CPT2D; hepatocardiomuscular form. 1 Publication
    Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
    VAR_001396
    Natural varianti448 – 4481F → L in CPT2D. 1 Publication
    VAR_007968
    Natural varianti479 – 4791Y → F in CPT2D. 1 Publication
    VAR_007969
    Natural varianti503 – 5031R → C in CPT2D. 1 Publication
    VAR_007970
    Natural varianti549 – 5491G → D in CPT2D. 1 Publication
    Corresponds to variant rs186044004 [ dbSNP | Ensembl ].
    VAR_007971
    Natural varianti550 – 5501Q → R in CPT2D. 1 Publication
    VAR_020543
    Natural varianti553 – 5531D → N in CPT2D. 1 Publication
    Corresponds to variant rs28936376 [ dbSNP | Ensembl ].
    VAR_001397
    Natural varianti600 – 6001G → R in CPT2D. 1 Publication
    VAR_020544
    Natural varianti604 – 6041P → S in CPT2D. 1 Publication
    VAR_020545
    Natural varianti628 – 6281Y → S in CPT2D; hepatocardiomuscular form. 1 Publication
    Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
    VAR_001398
    Natural varianti631 – 6311R → C in CPT2D; early-onset hepatocardiomuscular form. 1 Publication
    VAR_001399
    Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM:600649]: A 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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN) [MIM:608836]: Lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM:614212]: A 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.2 Publications
    Note: 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
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti352 – 3521F → C Polymorphism associated with susceptibility to IIAE4; 3-fold decrease of affinity for L-carnitine; lower thermal stability compared to wild-type. 2 Publications
    Corresponds to variant rs2229291 [ dbSNP | Ensembl ].
    VAR_001394
    Natural varianti368 – 3681V → 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 Publications
    Corresponds to variant rs1799821 [ dbSNP | Ensembl ].
    VAR_001395
    Natural varianti504 – 5041P → L in a patient with IIAE4. 1 Publication
    VAR_066567
    Natural varianti605 – 6051V → L in a patient with IIAE4. 1 Publication
    VAR_066568

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi255110. phenotype.
    600649. phenotype.
    608836. phenotype.
    614212. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2525MitochondrionAdd
    BLAST
    Chaini26 – 658633Carnitine O-palmitoyltransferase 2, mitochondrialPRO_0000004424Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei69 – 691N6-succinyllysineBy similarity
    Modified residuei79 – 791N6-acetyllysineBy similarity
    Modified residuei85 – 851N6-succinyllysineBy similarity
    Modified residuei239 – 2391N6-acetyllysine; alternateBy similarity
    Modified residuei239 – 2391N6-succinyllysine; alternateBy similarity
    Modified residuei305 – 3051N6-acetyllysineBy similarity
    Modified residuei424 – 4241N6-succinyllysineBy similarity
    Modified residuei439 – 4391N6-succinyllysineBy similarity
    Modified residuei510 – 5101N6-acetyllysine; alternateBy similarity
    Modified residuei510 – 5101N6-succinyllysine; alternateBy similarity
    Modified residuei544 – 5441N6-acetyllysine; alternateBy similarity
    Modified residuei544 – 5441N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP23786.
    PaxDbiP23786.
    PeptideAtlasiP23786.
    PRIDEiP23786.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00012912.

    PTM databases

    PhosphoSiteiP23786.

    Expressioni

    Gene expression databases

    BgeeiP23786.
    CleanExiHS_CPT2.
    GenevestigatoriP23786.

    Organism-specific databases

    HPAiHPA028201.
    HPA028202.
    HPA028214.

    Interactioni

    Protein-protein interaction databases

    BioGridi107767. 5 interactions.
    IntActiP23786. 2 interactions.
    MINTiMINT-3010089.
    STRINGi9606.ENSP00000360541.

    Structurei

    3D structure databases

    ProteinModelPortaliP23786.
    SMRiP23786. Positions 34-657.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 178153Mitochondrial matrixBy similarityAdd
    BLAST
    Topological domaini209 – 658450Mitochondrial matrixBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei179 – 20830Note=Mitochondrial inner membraneBy similarityAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni452 – 46413Coenzyme A bindingBy similarityAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG70127.
    HOGENOMiHOG000007446.
    HOVERGENiHBG098001.
    InParanoidiP23786.
    KOiK08766.
    OMAiRCSEAFV.
    OrthoDBiEOG776SPG.
    PhylomeDBiP23786.
    TreeFamiTF315202.

    Family and domain databases

    InterProiIPR000542. Carn_acyl_trans.
    [Graphical view]
    PANTHERiPTHR22589. PTHR22589. 1 hit.
    PfamiPF00755. Carn_acyltransf. 1 hit.
    [Graphical view]
    PROSITEiPS00439. ACYLTRANSF_C_1. 1 hit.
    PS00440. ACYLTRANSF_C_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P23786-1 [UniParc]FASTAAdd to Basket

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    MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP    50
    RLPIPKLEDT IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV 100
    ALDKQNKHTS YISGPWFDMY LSARDSVVLN FNPFMAFNPD PKSEYNDQLT 150
    RATNMTVSAI RFLKTLRAGL LEPEVFHLNP AKSDTITFKR LIRFVPSSLS 200
    WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA RHLLVLRKGN 250
    FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 300
    ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR 350
    WFDKSFNLII AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ 400
    SQPATTDSTV TVQKLNFELT DALKTGITAA KEKFDATMKT LTIDCVQFQR 450
    GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG QTVATYESCS TAAFKHGRTE 500
    TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG QLTKEAAMGQ 550
    GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG 600
    GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA 650
    LEGKSIKS 658
    Length:658
    Mass (Da):73,777
    Last modified:October 1, 1993 - v2
    Checksum:i6444B75ACD57140F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501P → H in CPT2D; muscular type. 2 Publications
    Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
    VAR_001391
    Natural varianti113 – 1131S → L in CPT2D; muscular form; frequent mutation. 4 Publications
    Corresponds to variant rs74315294 [ dbSNP | Ensembl ].
    VAR_001392
    Natural varianti151 – 1511R → Q in CPT2D. 2 Publications
    VAR_020540
    Natural varianti174 – 1741E → K in CPT2D; muscular type. 1 Publication
    Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
    VAR_001393
    Natural varianti210 – 2101Y → D in CPT2D. 1 Publication
    VAR_020541
    Natural varianti213 – 2131D → G in CPT2D. 1 Publication
    VAR_037976
    Natural varianti214 – 2141M → T in CPT2D. 1 Publication
    VAR_007966
    Natural varianti227 – 2271P → L in CPT2D. 2 Publications
    VAR_007967
    Natural varianti296 – 2961R → Q in CPT2D. 2 Publications
    VAR_020542
    Natural varianti352 – 3521F → C Polymorphism associated with susceptibility to IIAE4; 3-fold decrease of affinity for L-carnitine; lower thermal stability compared to wild-type. 2 Publications
    Corresponds to variant rs2229291 [ dbSNP | Ensembl ].
    VAR_001394
    Natural varianti368 – 3681V → 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 Publications
    Corresponds to variant rs1799821 [ dbSNP | Ensembl ].
    VAR_001395
    Natural varianti383 – 3831F → Y in CPT2D; hepatocardiomuscular form. 1 Publication
    Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
    VAR_001396
    Natural varianti448 – 4481F → L in CPT2D. 1 Publication
    VAR_007968
    Natural varianti479 – 4791Y → F in CPT2D. 1 Publication
    VAR_007969
    Natural varianti503 – 5031R → C in CPT2D. 1 Publication
    VAR_007970
    Natural varianti504 – 5041P → L in a patient with IIAE4. 1 Publication
    VAR_066567
    Natural varianti549 – 5491G → D in CPT2D. 1 Publication
    Corresponds to variant rs186044004 [ dbSNP | Ensembl ].
    VAR_007971
    Natural varianti550 – 5501Q → R in CPT2D. 1 Publication
    VAR_020543
    Natural varianti553 – 5531D → N in CPT2D. 1 Publication
    Corresponds to variant rs28936376 [ dbSNP | Ensembl ].
    VAR_001397
    Natural varianti588 – 5881S → C.
    Corresponds to variant rs1871748 [ dbSNP | Ensembl ].
    VAR_011741
    Natural varianti600 – 6001G → R in CPT2D. 1 Publication
    VAR_020544
    Natural varianti604 – 6041P → S in CPT2D. 1 Publication
    VAR_020545
    Natural varianti605 – 6051V → L in a patient with IIAE4. 1 Publication
    VAR_066568
    Natural varianti628 – 6281Y → S in CPT2D; hepatocardiomuscular form. 1 Publication
    Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
    VAR_001398
    Natural varianti631 – 6311R → C in CPT2D; early-onset hepatocardiomuscular form. 1 Publication
    VAR_001399
    Natural varianti647 – 6471M → V Common polymorphism; confirmed at protein level. 7 Publications
    Corresponds to variant rs1799822 [ dbSNP | Ensembl ].
    VAR_001400

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI18907.1.
    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.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi416836.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI18907.1 .
    CH471059 Genomic DNA. Translation: EAX06753.1 .
    BC002445 mRNA. Translation: AAH02445.1 .
    BC005172 mRNA. Translation: AAH05172.1 .
    CCDSi CCDS575.1.
    PIRi A39018.
    RefSeqi NP_000089.1. NM_000098.2.
    UniGenei Hs.713535.

    3D structure databases

    ProteinModelPortali P23786.
    SMRi P23786. Positions 34-657.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107767. 5 interactions.
    IntActi P23786. 2 interactions.
    MINTi MINT-3010089.
    STRINGi 9606.ENSP00000360541.

    Chemistry

    BindingDBi P23786.
    ChEMBLi CHEMBL3238.
    DrugBanki DB00583. L-Carnitine.
    DB01074. Perhexiline.

    PTM databases

    PhosphoSitei P23786.

    Polymorphism databases

    DMDMi 416836.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00012912.

    Proteomic databases

    MaxQBi P23786.
    PaxDbi P23786.
    PeptideAtlasi P23786.
    PRIDEi P23786.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371486 ; ENSP00000360541 ; ENSG00000157184 .
    GeneIDi 1376.
    KEGGi hsa:1376.
    UCSCi uc001cvb.4. human.

    Organism-specific databases

    CTDi 1376.
    GeneCardsi GC01P053662.
    GeneReviewsi CPT2.
    HGNCi HGNC:2330. CPT2.
    HPAi HPA028201.
    HPA028202.
    HPA028214.
    MIMi 255110. phenotype.
    600649. phenotype.
    600650. gene.
    608836. phenotype.
    614212. phenotype.
    neXtProti NX_P23786.
    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.
    PharmGKBi PA26849.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70127.
    HOGENOMi HOG000007446.
    HOVERGENi HBG098001.
    InParanoidi P23786.
    KOi K08766.
    OMAi RCSEAFV.
    OrthoDBi EOG776SPG.
    PhylomeDBi P23786.
    TreeFami TF315202.

    Enzyme and pathway databases

    UniPathwayi UPA00659 .
    BioCyci MetaCyc:HS08187-MONOMER.
    BRENDAi 2.3.1.21. 2681.
    Reactomei REACT_11082. Import of palmitoyl-CoA into the mitochondrial matrix.
    REACT_116145. PPARA activates gene expression.

    Miscellaneous databases

    GeneWikii Carnitine_palmitoyltransferase_II.
    GenomeRNAii 1376.
    NextBioi 5585.
    PROi P23786.
    SOURCEi Search...

    Gene expression databases

    Bgeei P23786.
    CleanExi HS_CPT2.
    Genevestigatori P23786.

    Family and domain databases

    InterProi IPR000542. Carn_acyl_trans.
    [Graphical view ]
    PANTHERi PTHR22589. PTHR22589. 1 hit.
    Pfami PF00755. Carn_acyltransf. 1 hit.
    [Graphical view ]
    PROSITEi PS00439. ACYLTRANSF_C_1. 1 hit.
    PS00440. ACYLTRANSF_C_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase."
      Finocchiaro G., Taroni F., Rocchi M., Martin A.L., Colombo I., Tarelli G.T., Didonato S.
      Proc. Natl. Acad. Sci. U.S.A. 88:661-665(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
      Tissue: Liver.
    2. Cited for: SEQUENCE REVISION TO 283 AND 375.
    3. "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations."
      Verderio E., Cavadini P., Montermini L., Wang H., Lamantea E., Finocchiaro G., Didonato S., Gellera C., Taroni F.
      Hum. Mol. Genet. 4:19-29(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CPT2D DEFICIENCY HIS-50 AND ASN-553.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CPT2D LEU-113, VARIANTS ILE-368 AND VAL-647.
      Tissue: Skin and Uterus.
    8. "Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver."
      Finocchiaro G., Colombo I., Didonato S.
      FEBS Lett. 274:163-166(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL PROTEIN SEQUENCE.
      Tissue: Liver.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study."
      Taroni F., Gellera C., Cavadini P., Baratta S., Lamantea E., Dethlefs S., Didonato S., Reik R.A., Benke P.J.
      Am. J. Hum. Genet. 51:A245-A245(1992)
      Cited for: VARIANT CPT2D LEU-227.
    12. "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency."
      Taroni F., Verderio E., Fiorucci S., Cavadini P., Finocchiaro G., Uziel G., Lamantea E., Gellera C., Didonato S.
      Proc. Natl. Acad. Sci. U.S.A. 89:8429-8433(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPT2D CYS-631, VARIANTS ILE-368 AND VAL-647.
    13. "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients."
      Taroni F., Verderio E., Dworzak F., Willems P.J., Cavadini P., Didonato S.
      Nat. Genet. 4:314-320(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPT2D LEU-113.
    14. "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression."
      Bonnefont J.-P., Taroni F., Cavadini P., Cepanec C., Brivet M., Saudubray J.-M., Leroux J.-P., Demaugre F.
      Am. J. Hum. Genet. 58:971-978(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPT2D SER-628.
    15. "Carnitine palmityltransferase II deficiency: three novel mutations."
      Wieser T., Deschauer M., Zierz S.
      Ann. Neurol. 42:414-415(1997)
      Cited for: VARIANTS CPT2D THR-214; LEU-448 AND PHE-479.
    16. "Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes."
      Wataya K., Akanuma J., Cavadini P., Aoki Y., Kure S., Invernizzi F., Yoshida I., Kira J., Taroni F., Matsubara Y., Narisawa K.
      Hum. Mutat. 11:377-386(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPT2D LYS-174 AND TYR-383, VARIANTS CYS-352; ILE-368 AND VAL-647.
    17. "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency."
      Yang B.-Z., Ding J.-H., Dewese T., Roe D., He G., Wilkinson J., Day D.W., Demaugre F., Rabier D., Brivet M., Roe C.
      Mol. Genet. Metab. 64:229-236(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPT2D LEU-113; GLN-151; LEU-227; ARG-550 AND SER-604, VARIANTS ILE-368 AND VAL-647.
    18. "Novel mutations associated with carnitine palmitoyltransferase II deficiency."
      Taggart R.T., Smail D., Apolito C., Vladutiu G.D.
      Hum. Mutat. 13:210-220(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPT2D CYS-503 AND ASP-549.
    19. Cited for: INVOLVEMENT IN LN-CPT2D.
    20. Cited for: VARIANTS CPT2D GLN-151; ASP-210; GLN-296 AND ARG-600, VARIANTS ILE-368 AND VAL-647.
    21. "Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review."
      Sigauke E., Rakheja D., Kitson K., Bennett M.J.
      Lab. Invest. 83:1543-1554(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPT2D GLN-296.
    22. "Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations."
      Oerngreen M.C., Dunoe M., Ejstrup R., Christensen E., Schwartz M., Sacchetti M., Vissing J.
      Ann. Neurol. 57:60-66(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPT2D HIS-50; LEU-113 AND GLY-213.
    23. "Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy."
      Chen Y., Mizuguchi H., Yao D., Ide M., Kuroda Y., Shigematsu Y., Yamaguchi S., Yamaguchi M., Kinoshita M., Kido H.
      FEBS Lett. 579:2040-2044(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION OF VARIANTS CYS-352 AND ILE-368 WITH SUSCEPTIBILITY TO IIAE4.
    24. "Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data."
      Bunger M.K., Cargile B.J., Sevinsky J.R., Deyanova E., Yates N.A., Hendrickson R.C., Stephenson J.L. Jr.
      J. Proteome Res. 6:2331-2340(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VAL-647, IDENTIFICATION BY MASS SPECTROMETRY.
    25. "Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy."
      Yao D., Mizuguchi H., Yamaguchi M., Yamada H., Chida J., Shikata K., Kido H.
      Hum. Mutat. 29:718-727(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-352; ILE-368; LEU-504; LEU-605 AND VAL-647, CHARACTERIZATION OF VARIANTS CYS-352 AND ILE-368.
    26. "Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants."
      Mak C.M., Lam C.W., Fong N.C., Siu W.K., Lee H.C., Siu T.S., Lai C.K., Law C.Y., Tong S.F., Poon W.T., Lam D.S., Ng H.L., Yuen Y.P., Tam S., Que T.L., Kwong N.S., Chan A.Y.
      J. Hum. Genet. 56:617-621(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION OF VARIANTS CYS-352 AND ILE-368 WITH SUSCEPTIBILITY TO IIAE4.

    Entry informationi

    Entry nameiCPT2_HUMAN
    AccessioniPrimary (citable) accession number: P23786
    Secondary accession number(s): B2R6S0, Q5SW68, Q9BQ26
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: October 1, 1993
    Last modified: October 1, 2014
    This is version 156 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3