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
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00708  Tyrosine degradation
N00709  FAH deficiency in tyrosine degradation
N10020  HPD inhibitior to downstream of deficinent 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)
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
LinkDB All DBs
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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