KEGG   Homo sapiens (human): 2184
Entry
2184              CDS       T01001                                 
Symbol
FAH
Name
(RefSeq) fumarylacetoacetate hydrolase
  KO
K01555  fumarylacetoacetase [EC:3.7.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00350  Tyrosine metabolism
hsa01100  Metabolic pathways
Module
hsa_M00044  Tyrosine degradation, tyrosine => homogentisate
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00708  Tyrosine degradation
N10020  HPD inhibitor to downstream of deficient FAH
Disease
H00165  Tyrosinemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00350 Tyrosine metabolism
    2184 (FAH)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2184 (FAH)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.7  Acting on carbon-carbon bonds
   3.7.1  In ketonic substances
    3.7.1.2  fumarylacetoacetase
     2184 (FAH)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   2184 (FAH)
SSDB
Motif
Pfam: FAA_hydrolase FAA_hydrolase_N
Other DBs
NCBI-GeneID: 2184
NCBI-ProteinID: NP_000128
OMIM: 613871
HGNC: 3579
Ensembl: ENSG00000103876
Pharos: P16930(Tbio)
UniProt: P16930 A0A384P5L6
Position
15:80152789..80186949
AA seq 419 aa
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS
NT seq 1260 nt   +upstreamnt  +downstreamnt
atgtccttcatcccggtggccgaggattccgacttccccatccacaacctgccctacggc
gtcttctcgaccagaggcgacccaagaccgaggataggtgtggccattggcgaccagatc
ctggacctcagcatcatcaagcacctctttactggtcctgtcctctccaaacaccaggat
gtcttcaatcagcctacactcaacagcttcatgggcctgggtcaggctgcctggaaggag
gcgagagtgttcttgcagaacttgctgtctgtgagccaagccaggctcagagatgacacc
gaacttcggaagtgtgcattcatctcccaggcttctgccacgatgcaccttccagccacc
ataggagactacacagacttctattcctctcggcagcatgctaccaacgtcggaatcatg
ttcagggacaaggagaatgcgttgatgccaaattggctgcacttaccagtgggctaccat
ggccgtgcctcctctgtcgtggtgtctggcaccccaatccgaaggcccatgggacagatg
aaacctgatgactctaagcctcccgtatatggtgcctgcaagctcttggacatggagctg
gaaatggctttttttgtaggccctggaaacagattgggagagccgatccccatttccaag
gcccatgagcacatttttggaatggtccttatgaacgactggagtgcacgagacattcag
aagtgggagtatgtccctctcgggccattccttgggaagagttttgggaccactgtctct
ccgtgggtggtgcccatggatgctctcatgccctttgctgtgcccaacccgaagcaggac
cccaggcccctgccgtatctgtgccatgacgagccctacacatttgacatcaacctctct
gttaacctgaaaggagaaggaatgagccaggcggctaccatatgcaagtccaattttaag
tacatgtactggacgatgctgcagcagctcactcaccactctgtcaacggctgcaacctg
cggccgggggacctcctggcttctgggaccatcagcgggccggagccagaaaacttcggc
tccatgttggaactgtcgtggaagggaacgaagcccatagacctggggaatggtcagacc
aggaagtttctgctggacggggatgaagtcatcataacagggtactgccagggggatggt
taccgcatcggctttggccagtgtgctggaaaagtgctgcctgctctcctgccatcatga

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