KEGG   Homo sapiens (human): 2184Help
Entry
2184              CDS       T01001                                 

Gene name
FAH
Definition
(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
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: FAA_hydrolase FAA_hydrolase_N
Motif
Other DBs
NCBI-GeneID: 2184
NCBI-ProteinID: NP_000128
OMIM: 613871
HGNC: 3579
Ensembl: ENSG00000103876
Vega: OTTHUMG00000144187
Pharos: P16930(Tbio)
UniProt: P16930 A0A384P5L6
Position
15q25.1
AA seq 419 aa AA seqDB search
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS
NT seq 1260 nt NT seq  +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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