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Protein Page:
CPT2 (mouse)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
CPT2 Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D); also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an 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. Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI). 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. Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN); also known as lethal neonatal CPT-II deficiency. It is a 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. Defects in CPT2 are a cause of susceptibility to encephalopathy acute infection-induced type 4 (IIAE4). 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. Polymorphic variants in CPT2 can confer susceptibility to infection-induced encepalopathy. These 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). Belongs to the carnitine/choline acetyltransferase family. Note: This description may include information from UniProtKB.
Protein type: Transferase; Mitochondrial; EC 2.3.1.21; Lipid Metabolism - fatty acid
Cellular Component: membrane; mitochondrion; mitochondrial inner membrane; nucleus
Molecular Function: transferase activity; transferase activity, transferring acyl groups; carnitine O-palmitoyltransferase activity
Biological Process: transport; lipid metabolic process; fatty acid metabolic process
Reference #:  P52825 (UniProtKB)
Alt. Names/Synonyms: AI323697; Carnitine O-palmitoyltransferase 2, mitochondrial; carnitine palmitoyltransferase 2; Carnitine palmitoyltransferase II; CPT II; Cpt-2; Cpt2; CPTII; OTTMUSP00000009669
Gene Symbols: Cpt2
Molecular weight: 73,981 Da
Basal Isoelectric point: 8.59  Predict pI for various phosphorylation states
Select Structure to View Below

CPT2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       mouse

 
0 4 K62-ac PKLEDTMkRYLSAQk
0 19 K69-ac kRYLSAQkPLLNDsQ
0 1 K69-sc kRYLSAQkPLLNDsQ
0 1 S75-p QkPLLNDsQFRkTEV
0 1 K79-sc LNDsQFRkTEVLCKD
0 1 K104-ac AHLLAQDkQNKHTSY
0 1 S126 MYLTARDSVVLNFNP
0 1 K142-ac MAFNPDPkSEYNDQL
0 1 K142-sc MAFNPDPkSEYNDQL
0 1 Y217 YPLDMSQYFRLFNST
0 1 S223 QYFRLFNSTRIPKPS
0 1 T224 YFRLFNSTRIPKPSR
0 6 K239-ac DELFTDTkARHLLVL
0 1 K239-sc DELFTDTkARHLLVL
0 1 Y290 VPEFPLAYLTSENRD
0 1 K305-ac VWAELRQkLIHGGNE
0 2 K305-sc VWAELRQkLIHGGNE
0 1 K414-ac DSSVSVQkLSFkLsS
0 1 K414-sc DSSVSVQkLSFkLsS
0 1 K418-ac SVQkLSFkLsSALkA
0 2 K418-sc SVQkLSFkLsSALkA
0 1 S420-p QkLSFkLsSALkAGV
0 2 K424-sc FkLsSALkAGVTAAK
0 1 K439-sc EKFDATMkTLTIDAI
0 1 K453 IQFQRGGKEFLkKKK
0 4 K457-ac RGGKEFLkKKKLSPD
0 1 S490 VATYESCSTAAFKHG
0 1 T491 ATYESCSTAAFKHGR
0 1 F508 TIRPASIFTKRCSEA
0 2 K510 RPASIFTKRCSEAFV
0 4 K544-ac KYHGQLTkEAAMGQG
0 1 K544-sc KYHGQLTkEAAMGQG
  human

 
R62 PKLEDTIRRYLSAQk
K69-ac RRYLSAQkPLLNDGQ
K69-sc RRYLSAQkPLLNDGQ
G75 QkPLLNDGQFRKTEQ
K79 LNDGQFRKTEQFCKS
K104 EQLVALDKQNKHTSY
S126-p MYLSARDsVVLNFNP
K142 MAFNPDPKSEYNDQL
K142 MAFNPDPKSEYNDQL
Y217-p YPLDMSQyFRLFNst
S223-p QyFRLFNstRLPKPS
T224-p yFRLFNstRLPKPSR
K239 DELFTDDKARHLLVL
K239 DELFTDDKARHLLVL
Y290-p APEFPLAyLTSENRD
K305 IWAELRQKLMSSGNE
K305 IWAELRQKLMSSGNE
K414 DSTVTVQKLNFELTD
K414 DSTVTVQKLNFELTD
E418 TVQKLNFELTDALKT
E418 TVQKLNFELTDALKT
T420 QKLNFELTDALKTGI
K424 FELTDALKTGITAAK
K439 EKFDATMKTLTIDCV
K453-sc VQFQRGGkEFLKKQK
K457 RGGkEFLKKQKLSPD
S490-p VATYESCstAAFKHG
T491-p ATYESCstAAFKHGR
Y508-p TIRPASVyTkRCSEA
K510-ac RPASVyTkRCSEAFV
K544-ac KYHGQLTkEAAMGQG
K544-sc KYHGQLTkEAAMGQG
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