KEGG   Homo sapiens (human): 1376Help
Entry
1376              CDS       T01001                                 

Gene name
CPT2, CPT1, CPTASE, IIAE4
Definition
(RefSeq) carnitine palmitoyltransferase 2
  KO
K08766  carnitine O-palmitoyltransferase 2 [EC:2.3.1.21]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
hsa03320  PPAR signaling pathway
hsa04714  Thermogenesis
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00765  beta-Oxidation, acyl-CoA synthesis
N00771  CPT2 deficiency in beta-oxidation
Disease
H00525  Disorders of mitochondrial fatty-acid oxidation
H01400  Secondary hyperammonemia
H01982  Carnitine palmitoyltransferase II deficiency
Drug target
Perhexiline (DG00334): D05442 D08340
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00071 Fatty acid degradation
    1376 (CPT2)
 09150 Organismal Systems
  09152 Endocrine system
   03320 PPAR signaling pathway
    1376 (CPT2)
  09159 Environmental adaptation
   04714 Thermogenesis
    1376 (CPT2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.21  carnitine O-palmitoyltransferase
     1376 (CPT2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Carn_acyltransf Tri3
Motif
Other DBs
NCBI-GeneID: 1376
NCBI-ProteinID: NP_000089
OMIM: 600650
HGNC: 2330
Ensembl: ENSG00000157184
Vega: OTTHUMG00000008942
Pharos: P23786(Tchem)
UniProt: P23786 A0A140VK13
Position
1p32.3
AA seq 658 aa AA seqDB search
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT
IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY
LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP
AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII
AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG
QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS
NT seq 1977 nt NT seq  +upstreamnt  +downstreamnt
atggtgccccgcctgctgctgcgcgcctggccccggggccccgcggttggtccgggagcc
cccagtcggcccctcagcgccggctccgggcccggccagtacctgcagcgcagcatcgtg
cccaccatgcactaccaggacagcctgcccaggctgcctattcccaaacttgaagacacc
attaggagatacctcagtgcacagaagcctctcttgaatgatggccagttcaggaaaaca
gaacaattttgcaagagttttgaaaatgggattggaaaagaactgcatgagcagctggtt
gctctggacaaacagaataaacatacaagctacatttcgggaccctggtttgatatgtac
ctatctgctcgagactccgttgttctgaactttaatccatttatggctttcaatcctgac
ccaaaatctgagtataatgaccagctcacccgggcaaccaacatgactgtttctgccatc
cggtttctgaagacactccgggctggccttctggagccagaagtgttccacttgaaccct
gcaaaaagtgacactatcaccttcaagagactcatacgctttgtgccttcctctctgtcc
tggtatggggcctacctggtcaatgcgtatcccctggatatgtcccagtattttcggctt
ttcaactcaactcgtttacccaaacccagtcgggatgaactcttcactgatgacaaggcc
agacacctcctggtcctaaggaaaggaaatttttatatctttgatgtcctggatcaagat
gggaacattgtgagcccctcggaaatccaggcacatctgaagtacattctctcagacagc
agccccgcccccgagtttcccctggcatacctgaccagtgagaaccgagacatctgggca
gagctcaggcagaagctgatgagtagtggcaatgaggagagcctgaggaaagtggactcg
gcagtgttctgtctctgcctagatgacttccccattaaggaccttgtccacttgtcccac
aatatgctgcatggggatggcacaaaccgctggtttgataaatcctttaacctcattatc
gccaaggatggctctactgccgtccactttgagcactcttggggtgatggtgtggcagtg
ctcagattttttaatgaagtatttaaagacagcactcagacccctgccgtcactccacag
agccagccagctaccactgactctactgtcacggtgcagaaactcaacttcgagctgact
gatgccttaaagactggcatcacagctgctaaggaaaagtttgatgccaccatgaaaacc
ctcactattgactgcgtccagtttcagagaggaggcaaagaattcctgaagaagcaaaag
ctgagccctgacgcagttgcccagctggcattccagatggccttcctgcggcagtacggg
cagacagtggccacctacgagtcctgtagcactgccgcattcaagcacggccgcactgag
accatccgcccggcctccgtctatacaaagaggtgctctgaggcctttgtcagggagccc
tccaggcacagtgctggtgagcttcagcagatgatggttgagtgctccaagtaccatggc
cagctgaccaaagaagcagcaatgggccagggctttgaccgacacttgtttgctctgcgg
catctggcagcagccaaagggatcatcttgcctgagctctacctggaccctgcatacggg
cagataaaccacaatgtcctgtccacgagcacactgagcagcccagcagtgaaccttggg
ggctttgcccctgtggtctctgatggctttggtgttgggtatgctgttcatgacaactgg
ataggctgcaatgtctcttcctacccaggccgcaatgcccgggagtttctccaatgtgtg
gagaaggccttagaagacatgtttgatgccttagaaggcaaatccatcaaaagttaa

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