Sequence of FAAA_HUMAN
EC Number:3.7.1.2
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
4-fumarylacetoacetate + H2O = acetoacetate + fumarate
Other sequences found for EC No. 3.7.1.2
General information:
Sequence
0 MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD
60 VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT
120 IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM
180 KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ
240 KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS
300 VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG
360 SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS
Download this sequence
in fasta formatDownload all sequences for 3.7.1.2
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1185149
Phaneuf D.,Labelle Y.,Berube D.,Arden K.,Cavenee W.,Gagne R.,Tanguay R.M.
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
Am. J. Hum. Genet.
48
525-535
1991
1185151
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
1185152
Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.
The full-ORF clone resource of the German cDNA consortium.
BMC Genomics
8
399-399
2007
1185153
Zody M.C.,Garber M.,Sharpe T.,Young S.K.,Rowen L.,O'Neill K.,Whittaker C.A.,Kamal M.,Chang J.L.,Cuomo C.A.,Dewar K.,FitzGerald M.G.,Kodira C.D.,Madan A.,Qin S.,Yang X.,Abbasi N.,Abouelleil A.,Arachchi H.M.,Baradarani L.,Birditt B.,Bloom S.,Bloom T.,Borowsky M.L.,Burke J.,Butler J.,Cook A.,DeArellano K.,DeCaprio D.,Dorris L. III,Dors M.,Eichler E.E.,Engels R.,Fahey J.,Fleetwood P.,Friedman C.,Gearin G.,Hall J.L.,Hensley G.,Johnson E.,Jones C.,Kamat A.,Kaur A.,Locke D.P.,Madan A.,Munson G.,Jaffe D.B.,Lui A.,Macdonald P.,Mauceli E.,Naylor J.W.,Nesbitt R.,Nicol R.,O'Leary S.B.,Ratcliffe A.,Rounsley S.,She X.,Sneddon K.M.B.,Stewart S.,Sougnez C.,Stone S.M.,Topham K.,Vincent D.,Wang S.,Zimmer A.R.,Birren B.W.,Hood L.,Lander E.S.,Nusbaum C.
Analysis of the DNA sequence and duplication history of human chromosome 15.
Nature
440
671-675
2006
1185155
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1185157
Agsteribbe E.,van Faassen H.,Hartog M.V.,Reversma T.,Taanman J.-W.,Pannekoek H.,Evers R.F.,Welling G.M.,Berger R.
Nucleotide sequence of cDNA encoding human fumarylacetoacetase.
Nucleic Acids Res.
18
1887-1887
1990
1185158
St Louis M.,Tanguay R.M.
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
Hum. Mutat.
9
291-299
1997
1185159
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
1185160
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
1185161
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
1185162
Phaneuf D.,Lambert M.,Laframboise R.,Mitchell G.,Lettre F.,Tanguay R.M.
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
J. Clin. Invest.
90
1185-1192
1992
1185163
Labelle Y.,Phaneuf D.,Leclerc B.,Tanguay R.M.
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
Hum. Mol. Genet.
2
941-946
1993
1185164
Grompe M.,Al-Dhalimy M.
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
Hum. Mutat.
2
85-93
1993
1185165
Rootwelt H.,Berger R.,Gray G.,Kelly D.A.,Coskun T.,Kvittingen E.A.
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
Am. J. Hum. Genet.
55
653-658
1994
1185166
Rootwelt H.,Brodtkorb E.,Kvittingen E.A.
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
Am. J. Hum. Genet.
55
1122-1127
1994
1185167
Rootwelt H.,Chou J.,Gahl W.A.,Berger R.,Coskun T.,Brodtkorb E.,Kvittingen E.A.
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
Hum. Genet.
93
615-619
1994
1185168
St Louis M.,Poudrier J.,Phaneuf D.,Leclerc B.,Laframboise R.,Tanguay R.M.
Two novel mutations involved in hereditary tyrosinemia type I.
Hum. Mol. Genet.
4
319-320
1995
1185169
Hahn S.H.,Krasnewich D.,Brantly M.,Kvittingen E.A.,Gahl W.A.
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Hum. Mutat.
6
66-73
1995
1185170
Ploos van Amstel J.K.,Bergman A.J.I.W.,van Beurden E.A.C.M.,Roijers J.F.M.,Peelen T.,van den Berg I.E.T.,Poll-The B.T.,Kvittingen E.A.,Berger R.
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Hum. Genet.
97
51-59
1996
1185171
Bergman A.J.I.W.,van den Berg I.E.T.,Brink W.,Poll-The B.T.,Ploos van Amstel J.K.,Berger R.
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Hum. Mutat.
12
19-26
1998
1185172
Kim S.Z.,Kupke K.G.,Ierardi-Curto L.,Holme E.,Greter J.,Tanguay R.M.,Poudrier J.,D'Astous M.,Lettre F.,Hahn S.H.,Levy H.L.
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
J. Inherit. Metab. Dis.
23
791-804
2000
1185173
Dreumont N.,Poudrier J.A.,Bergeron A.,Levy H.L.,Baklouti F.,Tanguay R.M.
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
BMC Genet.
2
9-9
2001
1185174
Bergeron A.,D'Astous M.,Timm D.E.,Tanguay R.M.
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
J. Biol. Chem.
276
15225-15231
2001
1185175
Cassiman D.,Zeevaert R.,Holme E.,Kvittingen E.A.,Jaeken J.
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Orphanet J. Rare Dis.
4
28-28
2009
1185176
Lek M.,Karczewski K.J.,Minikel E.V.,Samocha K.E.,Banks E.,Fennell T.,O'Donnell-Luria A.H.,Ware J.S.,Hill A.J.,Cummings B.B.,Tukiainen T.,Birnbaum D.P.,Kosmicki J.A.,Duncan L.E.,Estrada K.,Zhao F.,Zou J.,Pierce-Hoffman E.,Berghout J.,Cooper D.N.,Deflaux N.,DePristo M.,Do R.,Flannick J.,Fromer M.,Gauthier L.,Goldstein J.,Gupta N.,Howrigan D.,Kiezun A.,Kurki M.I.,Moonshine A.L.,Natarajan P.,Orozco L.,Peloso G.M.,Poplin R.,Rivas M.A.,Ruano-Rubio V.,Rose S.A.,Ruderfer D.M.,Shakir K.,Stenson P.D.,Stevens C.,Thomas B.P.,Tiao G.,Tusie-Luna M.T.,Weisburd B.,Won H.H.,Yu D.,Altshuler D.M.,Ardissino D.,Boehnke M.,Danesh J.,Donnelly S.,Elosua R.,Florez J.C.,Gabriel S.B.,Getz G.,Glatt S.J.,Hultman C.M.,Kathiresan S.,Laakso M.,McCarroll S.,McCarthy M.I.,McGovern D.,McPherson R.,Neale B.M.,Palotie A.,Purcell S.M.,Saleheen D.,Scharf J.M.,Sklar P.,Sullivan P.F.,Tuomilehto J.,Tsuang M.T.,Watkins H.C.,Wilson J.G.,Daly M.J.,MacArthur D.G.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
536
285-291
2016
