KEGG   Homo sapiens (human): 1374
Entry
1374              CDS       T01001                                 
Symbol
CPT1A, CPT_I, CPT1, CPT1-L, CPTI-L, L-CPT1
Name
(RefSeq) carnitine palmitoyltransferase 1A
  KO
K08765  carnitine O-palmitoyltransferase 1, liver isoform [EC:2.3.1.21]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
hsa03320  PPAR signaling pathway
hsa04148  Efferocytosis
hsa04152  AMPK signaling pathway
hsa04714  Thermogenesis
hsa04920  Adipocytokine signaling pathway
hsa04922  Glucagon signaling pathway
hsa04931  Insulin resistance
hsa04936  Alcoholic liver disease
Network
nt06020  beta-Oxidation in mitochondria
nt06535  Efferocytosis
  Element
N00765  beta-Oxidation, acyl-CoA synthesis
N01777  Efferocytosis-induced NAD production
Disease
H00525  Disorders of mitochondrial fatty-acid oxidation
H01981  Carnitine palmitoyltransferase I deficiency
H02596  Disorders of carnitine transport and the carnitine cycle
Drug target
Oxfenicine: D05292
Perhexiline (DG00334): D05442 D08340
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00071 Fatty acid degradation
    1374 (CPT1A)
 09130 Environmental Information Processing
  09132 Signal transduction
   04152 AMPK signaling pathway
    1374 (CPT1A)
 09140 Cellular Processes
  09141 Transport and catabolism
   04148 Efferocytosis
    1374 (CPT1A)
 09150 Organismal Systems
  09152 Endocrine system
   04922 Glucagon signaling pathway
    1374 (CPT1A)
   04920 Adipocytokine signaling pathway
    1374 (CPT1A)
   03320 PPAR signaling pathway
    1374 (CPT1A)
  09159 Environmental adaptation
   04714 Thermogenesis
    1374 (CPT1A)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04936 Alcoholic liver disease
    1374 (CPT1A)
   04931 Insulin resistance
    1374 (CPT1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    1374 (CPT1A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.21  carnitine O-palmitoyltransferase
     1374 (CPT1A)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Other regulator of mitochondrial biogenesis
    1374 (CPT1A)
SSDB
Motif
Pfam: Carn_acyltransf CPT_N VHL_C DUF8157
Other DBs
NCBI-GeneID: 1374
NCBI-ProteinID: NP_001867
OMIM: 600528
HGNC: 2328
Ensembl: ENSG00000110090
UniProt: P50416 B2RAQ8 Q8WZ48
Structure
Position
11:complement(68754620..68844277)
AA seq 773 aa
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPS
SWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIV
TMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVK
DTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYI
YLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGST
IPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREME
QQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTL
DETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPI
VAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLL
ANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREG
RTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCL
YVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGY
GVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK
NT seq 2322 nt   +upstreamnt  +downstreamnt
atggcagaagctcaccaagctgtggcctttcagttcacggtcactccggacgggattgac
ctgcggctgagccatgaagctcttagacaaatctatctctctggacttcattcctggaaa
aagaagttcatcagattcaagaacggcatcatcactggcgtgtacccggcaagcccctcc
agttggcttatcgtggtggtgggcgtgatgacaacgatgtacgccaagatcgacccctcg
ttaggaataattgcaaaaatcaatcggactctggaaacggccaactgcatgtccagccag
acgaagaacgtggtcagcggcgtgctgtttggcaccggcctgtgggtggccctcatcgtc
accatgcgctactccctgaaagtgctgctctcctaccacgggtggatgttcactgagcac
ggcaagatgagtcgtgccaccaagatctggatgggtatggtcaagatcttttcaggccga
aaacccatgttgtacagcttccagacatcgctgcctcgcctgccggtcccggctgtcaaa
gacactgtgaacaggtatctacagtcggtgaggcctcttatgaaggaagaagacttcaaa
cggatgacagcacttgctcaagattttgctgtcggtcttggaccaagattacagtggtat
ttgaagttaaaatcctggtgggctacaaattacgtgagcgactggtgggaggagtacatc
tacctccgaggacgagggccgctcatggtgaacagcaactattatgccatggatctgctg
tatatccttccaactcacattcaggcagcaagagccggcaacgccatccatgccatcctg
ctttacaggcgcaaactggaccgggaggaaatcaaaccaattcgtcttttgggatccacg
attccactctgctccgctcagtgggagcggatgtttaatacttcccggatcccaggagag
gagacagacaccatccagcacatgagagacagcaagcacatcgtcgtgtaccatcgagga
cgctacttcaaggtctggctctaccatgatgggcggctgctgaagccccgggagatggag
cagcagatgcagaggatcctggacaatacctcggagcctcagcccggggaggccaggctg
gcagccctcaccgcaggagacagagttccctgggccaggtgtcgtcaggcctattttgga
cgtgggaaaaataagcagtctcttgatgctgtggagaaagcagcgttctttgtgacgtta
gatgaaactgaagaaggatacagaagtgaagacccggatacgtcaatggacagctacgcc
aaatctctactacacggccgatgttacgacaggtggtttgacaagtcgttcacgtttgtt
gtcttcaaaaacgggaagatgggcctcaacgctgaacactcctgggcagatgcgccgatc
gtggcccacctttgggagtacgtcatgtccattgacagcctccagctgggctatgcggag
gatgggcactgcaaaggcgacatcaatccgaacattccgtaccccaccaggctgcagtgg
gacatcccgggggaatgtcaagaggttatagagacctccctgaacaccgcaaatcttctg
gcaaacgacgtggatttccattccttcccattcgtagcctttggtaaaggaatcatcaag
aaatgtcgcacgagcccagacgcctttgtgcagctggccctccagctggcgcactacaag
gacatgggcaagttttgcctcacatacgaggcctccatgacccggctcttccgagagggg
aggacggagaccgtgcgctcctgcaccactgagtcatgcgacttcgtgcgggccatggtg
gacccggcccagacggtggaacagaggctgaagttgttcaagttggcgtctgagaagcat
cagcatatgtatcgcctcgccatgaccggctctgggatcgatcgtcacctcttctgcctt
tacgtggtgtctaaatatctcgctgtggagtcccctttccttaaggaagttttatctgag
ccttggagattatcaacaagccagacccctcagcagcaagtggagctgtttgacttggag
aataacccagagtacgtgtccagcggagggggctttggaccggttgctgatgacggctat
ggtgtgtcgtacatccttgtgggagagaacctcatcaatttccacatttcttccaagttc
tcttgccctgagacggattctcatcgctttggaaggcacctgaaagaagcaatgactgac
atcatcactttgtttggtctcagttctaattccaaaaagtaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (16)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (14)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (32)   
   RefSeq(nuc) (10)   
   GenBank (11)   
   EMBL (11)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (69)   

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