KEGG   Homo sapiens (human): 23600
Entry
23600             CDS       T01001                                 

Gene name
AMACR, AMACRD, CBAS4, P504S, RACE, RM
Definition
(RefSeq) alpha-methylacyl-CoA racemase
  KO
K01796  alpha-methylacyl-CoA racemase [EC:5.1.99.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00120  Primary bile acid biosynthesis
hsa01100  Metabolic pathways
hsa04146  Peroxisome
Module
hsa_M00104  Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate
Network
nt06021  beta-Oxidation in peroxisome
nt06022  Bile acid biosynthesis
  Element
N00779  beta-Oxidation, peroxisome, bile acid
N00780  SCP2 deficiency in beta-oxidation
N00781  AMACR deficiency in beta-oxidation
N00802  HSD17B4 deficiency in beta-oxidation
N00805  Bile acid biosynthesis
N00806  ACOX2 deficiency in bile acid biosynthesis
N00807  AMACR deficiency in bile acid biosynthesis
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H00628  Congenital bile acid synthesis defect
H02099  Alpha-methylacyl-CoA racemase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00120 Primary bile acid biosynthesis
    23600 (AMACR)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    23600 (AMACR)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.1  Racemases and epimerases
   5.1.99  Acting on other compounds
    5.1.99.4  alpha-methylacyl-CoA racemase
     23600 (AMACR)
SSDB
Motif
Pfam: CoA_transf_3
Other DBs
NCBI-GeneID: 23600
NCBI-ProteinID: NP_055139
OMIM: 604489
HGNC: 451
Ensembl: ENSG00000242110
Vega: OTTHUMG00000090734
Pharos: Q9UHK6(Tbio)
UniProt: Q9UHK6
LinkDB
Position
5p13.2
AA seq 382 aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQP
RGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLA
GHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQF
YELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTF
EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFS
REEIYQLNSDKIIESNKVKASL
NT seq 1149 nt   +upstreamnt  +downstreamnt
atggcactgcagggcatctcggtcgtggagctgtccggcctggccccgggcccgttctgt
gctatggtcctggctgacttcggggcgcgtgtggtacgcgtggaccggcccggctcccgc
tacgacgtgagccgcttgggccggggcaagcgctcgctagtgctggacctgaagcagccg
cggggagccgccgtgctgcggcgtctgtgcaagcggtcggatgtgctgctggagcccttc
cgccgcggtgtcatggagaaactccagctgggcccagagattctgcagcgggaaaatcca
aggcttatttatgccaggctgagtggatttggccagtcaggaagcttctgccggttagct
ggccacgatatcaactatttggctttgtcaggtgttctctcaaaaattggcagaagtggt
gagaatccgtatgccccgctgaatctcctggctgactttgctggtggtggccttatgtgt
gcactgggcattataatggctctttttgaccgcacacgcactggcaagggtcaggtcatt
gatgcaaatatggtggaaggaacagcatatttaagttcttttctgtggaaaactcagaaa
ttgagtctgtgggaagcacctcgaggacagaacatgttggatggtggagcacctttctat
acgacttacaggacagcagatggggaattcatggctgttggagcaatagaaccccagttc
tacgagctgctgatcaaaggacttggactaaagtctgatgaacttcccaatcagatgagc
atggatgattggccagaaatgaagaagaagtttgcagatgtatttgcagagaagacgaag
gcagagtggtgtcaaatctttgacggcacagatgcctgtgtgactccggttctgactttt
gaggaggttgttcatcatgatcacaacaaggaacggggctcgtttatcaccagtgaggag
caggacgtgagcccccgccctgcacctctgctgttaaacaccccagccatcccttctttc
aaaagggatcctttcataggagaacacactgaggagatacttgaagaatttggattcagc
cgcgaagagatttatcagcttaactcagataaaatcattgaaagtaataaggtaaaagct
agtctctaa

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