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P23786

- CPT2_HUMAN

UniProt

P23786 - CPT2_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 178153Mitochondrial matrixBy similarityAdd
BLAST
Intramembranei179 – 20830Note=Mitochondrial inner membraneBy similarityAdd
BLAST
Topological domaini209 – 658450Mitochondrial matrixBy similarityAdd
BLAST

GO - Cellular componenti

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

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. 13 interactions.
IntActiP23786. 2 interactions.
MINTiMINT-3010089.
STRINGi9606.ENSP00000360541.

Structurei

3D structure databases

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

Family & Domainsi

Region

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

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG70127.
GeneTreeiENSGT00550000074786.
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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        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
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:
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. 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:
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. 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. 13 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.
GeneTreei ENSGT00550000074786.
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

ChiTaRSi CPT2. human.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 158 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