KEGG   Homo sapiens (human): 126129Help
Entry
126129            CDS       T01001                                 

Gene name
CPT1C, CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
Definition
(RefSeq) carnitine palmitoyltransferase 1C
  KO
K19524  carnitine O-palmitoyltransferase 1, brain isoform [EC:2.3.1.21]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
hsa03320  PPAR signaling pathway
hsa04152  AMPK signaling pathway
hsa04714  Thermogenesis
hsa04920  Adipocytokine signaling pathway
hsa04922  Glucagon signaling pathway
Disease
H00266  Hereditary spastic paraplegia (SPG)
Drug target
Oxfenicine: D05292
Perhexiline (DG00334): D05442 D08340
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Lipid metabolism
   00071 Fatty acid degradation
    126129 (CPT1C)
 Environmental Information Processing
  Signal transduction
   04152 AMPK signaling pathway
    126129 (CPT1C)
 Organismal Systems
  Endocrine system
   04922 Glucagon signaling pathway
    126129 (CPT1C)
   04920 Adipocytokine signaling pathway
    126129 (CPT1C)
   03320 PPAR signaling pathway
    126129 (CPT1C)
  Environmental adaptation
   04714 Thermogenesis
    126129 (CPT1C)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.21  carnitine O-palmitoyltransferase
     126129 (CPT1C)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Other regulator of mitochondrial biogenesis
    126129 (CPT1C)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Carn_acyltransf CPT_N
Motif
Other DBs
NCBI-GeneID: 126129
NCBI-ProteinID: NP_001186681
OMIM: 608846
HGNC: 18540
Ensembl: ENSG00000169169
Vega: OTTHUMG00000183267
Pharos: Q8TCG5(Tbio)
UniProt: Q8TCG5 B3KU49 A0A024QZE3
Structure
PDB: 

Jmol
Position
19q13.33
AA seq 803 aa AA seqDB search
MAEAHQAVGFRPSLTSDGAEVELSAPVLQEIYLSGLRSWKRHLSRFWNDFLTGVFPASPL
SWLFLFSAIQLAWFLQLDPSLGLMEKIKELLPDWGGQHHGLRGVLAAALFASCLWGALIF
TLHVALRLLLSYHGWLLEPHGAMSSPTKTWLALVRIFSGRHPMLFSYQRSLPRQPVPSVQ
DTVRKYLESVRPILSDEDFDWTAVLAQEFLRLQASLLQWYLRLKSWWASNYVSDWWEEFV
YLRSRNPLMVNSNYYMMDFLYVTPTPLQAARAGNAVHALLLYRHRLNRQEIPPTLLMGMR
PLCSAQYEKIFNTTRIPGVQKDYIRHLHDSQHVAVFHRGRFFRMGTHSRNSLLSPRALEQ
QFQRILDDPSPACPHEEHLAALTAAPRGTWAQVRTSLKTQAAEALEAVEGAAFFVSLDAE
PAGLTREDPAASLDAYAHALLAGRGHDRWFDKSFTLIVFSNGKLGLSVEHSWADCPISGH
MWEFTLATECFQLGYSTDGHCKGHPDPTLPQPQRLQWDLPDQIHSSISLALRGAKILSEN
VDCHVVPFSLFGKSFIRRCHLSSDSFIQIALQLAHFRDRGQFCLTYESAMTRLFLEGRTE
TVRSCTREACNFVRAMEDKEKTDPQCLALFRVAVDKHQALLKAAMSGQGVDRHLFALYIV
SRFLHLQSPFLTQVHSEQWQLSTSQIPVQQMHLFDVHNYPDYVSSGGGFGPADDHGYGVS
YIFMGDGMITFHISSKKSSTKTDSHRLGQHIEDALLDVASLFQAGQHFKRRFRGSGKENS
RHRCGFLSRQTGASKASMTSTDF
NT seq 2412 nt NT seq  +upstreamnt  +downstreamnt
atggctgaagcgcaccaggccgtgggcttccgaccctcgctgacctcggacggggctgaa
gtggaactcagtgcccctgtgctgcaggagatctacctctctggcctgcgctcctggaaa
aggcatctctcacgtttctggaatgactttctcaccggtgtgtttcctgccagccccctc
agttggcttttcctcttcagtgccatccagcttgcctggttcctccagctggatccttcc
ttaggactgatggagaagatcaaagagttgctgcctgactggggtggacaacaccacggg
ctccggggggtcctggcagccgcgctgtttgcctcgtgtttgtggggagccctgatcttc
acactgcacgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccac
ggagccatgtcctcccccaccaagacctggctggccctggtccgcatcttctctggccgc
cacccgatgctgttcagttaccagcgctccctgccacgccagcccgtgccctctgtgcag
gacaccgtgcgcaagtacctggagtcggtccggcccatcctctccgacgaggacttcgac
tggaccgcggtcctggcgcaggaattcctgaggctgcaggcgtcgctgctgcagtggtac
ctgcggctcaagtcctggtgggcgtccaattatgtcagtgactggtgggaggaatttgtg
tacctgcgctcccgaaatccgctgatggtgaacagcaactattacatgatggacttcctg
tatgtcacacccacgcctctgcaggcagctcgcgctgggaatgccgtccatgccctcctc
ctgtaccgccaccgcctgaaccgccaggagatacccccgactttgctgatgggaatgcgc
cccttatgctctgcccagtacgagaagatcttcaacaccacgcggattccaggggtccaa
aaagactacatccgccacctccatgacagccaacacgtggctgtcttccaccggggccga
ttcttccgcatggggacccactcccgaaacagcctgctttccccgagagccctggagcag
cagtttcagagaatcctggatgatccctcaccggcctgcccccacgaggaacatctggca
gctctgacagctgctcccaggggcacgtgggcccaggtgcggacatccctgaagacccag
gcagcggaggccctggaggcggtggaaggggccgctttctttgtgtcactggatgctgag
cccgcggggctcaccagggaggacccggcagcgtcgttggatgcctacgcccatgctctg
ctggccggccggggccatgatcgctggtttgacaaatccttcaccctaatcgtcttctct
aacgggaagctgggcctcagcgtggagcactcctgggccgactgccccatctcaggacac
atgtgggagttcactctggctacagaatgctttcagctgggctactcaacagacggccac
tgcaaggggcacccggaccccacactaccccagccccagcggctgcaatgggaccttcca
gaccagatccactcctccatctctctagccctgaggggagccaagatcttgtctgaaaat
gtcgactgccatgtcgttccattctccctatttggcaagagcttcatccgacgctgccac
ctctcttcagacagcttcatccagatcgccttgcaactggcccacttccgggacaggggt
caattctgcctgacttatgagtcggccatgactcgcttattcctggaaggccggacggag
acggtgcggtcttgcacgagggaggcctgcaactttgtcagggccatggaggacaaagag
aagacggacccacagtgcctcgccctgttccgcgtggcagtggacaagcaccaggctctg
ctgaaggcagccatgagcgggcagggagttgaccgccacctgtttgcgctgtacatcgtg
tcccgattcctccacctgcagtcgcccttcctgacccaggtccattcggagcagtggcag
ctgtccaccagccagatccctgttcagcaaatgcatctgtttgacgtccacaattacccg
gactatgtttcctcaggcggtggattcgggcctgctgatgaccatggttatggtgtttct
tatatcttcatgggggatggcatgatcaccttccacatctccagcaaaaaatcaagcaca
aaaacggattcccacaggctggggcagcacattgaggacgcactgctggatgtggcctcc
ctgttccaggcgggacagcattttaagcgccggttcagagggtcagggaaggagaactcc
aggcacaggtgtggatttctctcccgccagactggggcctccaaggcctcaatgacatcc
accgacttctga

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