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P23786 (CPT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Carnitine O-palmitoyltransferase 2, mitochondrial

EC=2.3.1.21
Alternative name(s):
Carnitine palmitoyltransferase II
Short name=CPT II
Gene names
Name:CPT2
Synonyms:CPT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length658 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Pathway

Lipid metabolism; fatty acid beta-oxidation.

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.7 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.20 Ref.21 Ref.22

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.
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 (Ref.26). Ref.23 Ref.26

Sequence similarities

Belongs to the carnitine/choline acetyltransferase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2525Mitochondrion
Chain26 – 658633Carnitine O-palmitoyltransferase 2, mitochondrial
PRO_0000004424

Regions

Topological domain26 – 178153Mitochondrial matrix By similarity
Intramembrane179 – 20830Note=Mitochondrial inner membrane; By similarity
Topological domain209 – 658450Mitochondrial matrix By similarity
Region452 – 46413Coenzyme A binding By similarity

Sites

Active site3721Proton acceptor By similarity
Binding site4861Carnitine By similarity
Binding site4881Carnitine By similarity
Binding site4991Carnitine By similarity

Amino acid modifications

Modified residue691N6-succinyllysine By similarity
Modified residue791N6-acetyllysine By similarity
Modified residue851N6-succinyllysine By similarity
Modified residue2391N6-acetyllysine; alternate By similarity
Modified residue2391N6-succinyllysine; alternate By similarity
Modified residue3051N6-acetyllysine By similarity
Modified residue4241N6-succinyllysine By similarity
Modified residue4391N6-succinyllysine By similarity
Modified residue5101N6-acetyllysine; alternate By similarity
Modified residue5101N6-succinyllysine; alternate By similarity
Modified residue5441N6-acetyllysine; alternate By similarity
Modified residue5441N6-succinyllysine; alternate By similarity

Natural variations

Natural variant501P → H in CPT2D; muscular type. Ref.3 Ref.22
Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
VAR_001391
Natural variant1131S → L in CPT2D; muscular form; frequent mutation. Ref.7 Ref.13 Ref.17 Ref.22
Corresponds to variant rs74315294 [ dbSNP | Ensembl ].
VAR_001392
Natural variant1511R → Q in CPT2D. Ref.17 Ref.20
VAR_020540
Natural variant1741E → K in CPT2D; muscular type. Ref.16
Corresponds to variant rs28936674 [ dbSNP | Ensembl ].
VAR_001393
Natural variant2101Y → D in CPT2D. Ref.20
VAR_020541
Natural variant2131D → G in CPT2D. Ref.22
VAR_037976
Natural variant2141M → T in CPT2D. Ref.15
VAR_007966
Natural variant2271P → L in CPT2D. Ref.11 Ref.17
VAR_007967
Natural variant2961R → Q in CPT2D. Ref.20 Ref.21
VAR_020542
Natural variant3521F → C Polymorphism associated with susceptibility to IIAE4; 3-fold decrease of affinity for L-carnitine; lower thermal stability compared to wild-type. Ref.16 Ref.23 Ref.25 Ref.26
Corresponds to variant rs2229291 [ dbSNP | Ensembl ].
VAR_001394
Natural variant3681V → 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. Ref.7 Ref.12 Ref.16 Ref.17 Ref.20 Ref.23 Ref.25 Ref.26
Corresponds to variant rs1799821 [ dbSNP | Ensembl ].
VAR_001395
Natural variant3831F → Y in CPT2D; hepatocardiomuscular form. Ref.16
Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
VAR_001396
Natural variant4481F → L in CPT2D. Ref.15
VAR_007968
Natural variant4791Y → F in CPT2D. Ref.15
VAR_007969
Natural variant5031R → C in CPT2D. Ref.18
VAR_007970
Natural variant5041P → L in a patient with IIAE4. Ref.25
VAR_066567
Natural variant5491G → D in CPT2D. Ref.18
Corresponds to variant rs186044004 [ dbSNP | Ensembl ].
VAR_007971
Natural variant5501Q → R in CPT2D. Ref.17
VAR_020543
Natural variant5531D → N in CPT2D. Ref.3
Corresponds to variant rs28936376 [ dbSNP | Ensembl ].
VAR_001397
Natural variant5881S → C.
Corresponds to variant rs1871748 [ dbSNP | Ensembl ].
VAR_011741
Natural variant6001G → R in CPT2D. Ref.20
VAR_020544
Natural variant6041P → S in CPT2D. Ref.17
VAR_020545
Natural variant6051V → L in a patient with IIAE4. Ref.25
VAR_066568
Natural variant6281Y → S in CPT2D; hepatocardiomuscular form. Ref.14
Corresponds to variant rs28936673 [ dbSNP | Ensembl ].
VAR_001398
Natural variant6311R → C in CPT2D; early-onset hepatocardiomuscular form. Ref.12
VAR_001399
Natural variant6471M → V Common polymorphism; confirmed at protein level. Ref.7 Ref.12 Ref.16 Ref.17 Ref.20 Ref.24 Ref.25
Corresponds to variant rs1799822 [ dbSNP | Ensembl ].
VAR_001400

Sequences

Sequence LengthMass (Da)Tools
P23786 [UniParc].

Last modified October 1, 1993. Version 2.
Checksum: 6444B75ACD57140F

FASTA65873,777
        10         20         30         40         50         60 
MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT 

        70         80         90        100        110        120 
IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY 

       130        140        150        160        170        180 
LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP 

       190        200        210        220        230        240 
AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA 

       250        260        270        280        290        300 
RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 

       310        320        330        340        350        360 
ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII 

       370        380        390        400        410        420 
AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT 

       430        440        450        460        470        480 
DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG 

       490        500        510        520        530        540 
QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG 

       550        560        570        580        590        600 
QLTKEAAMGQ GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG 

       610        620        630        640        650 
GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA LEGKSIKS 

« Hide

References

« Hide 'large scale' references
[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]Erratum
Finocchiaro G., Taroni F., Rocchi M., Martin A.L., Colombo I., Tarelli G.T., Didonato S.
Proc. Natl. Acad. Sci. U.S.A. 88:10981-10981(1991) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Antenatal presentation of carnitine palmitoyltransferase II deficiency."
Elpeleg O.N., Hammerman C., Saada A., Shaag A., Golzand E., Hochner-Celnikier D., Berger I., Nadjari M.
Am. J. Med. Genet. 102:183-187(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN LN-CPT2D.
[20]"Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency."
Olpin S.E., Afifi A., Clark S., Manning N.J., Bonham J.R., Dalton A., Leonard J.V., Land J.M., Andresen B.S., Morris A.A., Muntoni F., Turnbull D., Pourfarzam M., Rahman S., Pollitt R.J.
J. Inherit. Metab. Dis. 26:543-557(2003) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U09648 mRNA. Translation: AAB60383.1.
M58581 mRNA. Translation: AAB59462.1.
U09646 expand/collapse EMBL AC list , 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.
PIRA39018.
RefSeqNP_000089.1. NM_000098.2.
UniGeneHs.713535.

3D structure databases

ProteinModelPortalP23786.
SMRP23786. Positions 34-657.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107767. 4 interactions.
IntActP23786. 2 interactions.
MINTMINT-3010089.
STRING9606.ENSP00000360541.

Chemistry

BindingDBP23786.
ChEMBLCHEMBL3238.
DrugBankDB00583. L-Carnitine.
DB01074. Perhexiline.

PTM databases

PhosphoSiteP23786.

Polymorphism databases

DMDM416836.

2D gel databases

REPRODUCTION-2DPAGEIPI00012912.

Proteomic databases

PaxDbP23786.
PeptideAtlasP23786.
PRIDEP23786.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371486; ENSP00000360541; ENSG00000157184.
GeneID1376.
KEGGhsa:1376.
UCSCuc001cvb.4. human.

Organism-specific databases

CTD1376.
GeneCardsGC01P053662.
HGNCHGNC:2330. CPT2.
HPAHPA028201.
HPA028202.
HPA028214.
MIM255110. phenotype.
600649. phenotype.
600650. gene.
608836. phenotype.
614212. phenotype.
neXtProtNX_P23786.
Orphanet263524. 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.
PharmGKBPA26849.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70127.
HOGENOMHOG000007446.
HOVERGENHBG098001.
InParanoidP23786.
KOK08766.
OMAYNDQLTR.
OrthoDBEOG776SPG.
PhylomeDBP23786.
TreeFamTF315202.

Enzyme and pathway databases

BRENDA2.3.1.21. 2681.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00659.

Gene expression databases

BgeeP23786.
CleanExHS_CPT2.
GenevestigatorP23786.

Family and domain databases

InterProIPR000542. Carn_acyl_trans.
[Graphical view]
PANTHERPTHR22589. PTHR22589. 1 hit.
PfamPF00755. Carn_acyltransf. 1 hit.
[Graphical view]
PROSITEPS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCarnitine_palmitoyltransferase_II.
GenomeRNAi1376.
NextBio5585.
PROP23786.
SOURCESearch...

Entry information

Entry nameCPT2_HUMAN
AccessionPrimary (citable) accession number: P23786
Secondary accession number(s): B2R6S0, Q5SW68, Q9BQ26
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: October 1, 1993
Last modified: April 16, 2014
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM