Homo sapiens (human): 2184 Help 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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