Protein-coding gene in the species Homo sapiens
Fumarylacetoacetate hydrolase domain-containing protein 1 , also known as FLJ36880 protein, is anenzyme that in humans is encoded by theFAHD1 gene onchromosome 16 .[ 4]
The FAHD1 gene encodes for a 24-kDa protein that is localized to themitochondrion and belongs to thefumarylacetoacetate hydrolase family of proteins.[ 5] The structure of FAHD1 has been resolved usingX-ray crystallography at 2.2-Å resolution. The overall structure is similar to the C-terminal domain of the bifunctional enzyme HpcE from Escherichia coli C, fumarylacetoacetate hydrolase from Mus musculus and to YcgM (Apc5008) from E. coli 1262.[ 5] A number of conserved amino acids including Asp-102 and Arg-106 of FAHD1 appear to be important for its catalytic activity.[ 6]
The FAHD1 protein has been shown to function as anoxaloacetate decarboxylase ineukaryotes .[ 7] The FAHD1 protein probably also functions as anacylpyruvase , having been shown to catalyze thehydrolysis ofacetylpyruvate andfumarylpyruvate in in vitro experiments.[ 5] Mg(2+) was required for maximal enzyme activity.[ 6]
^a b c GRCm38: Ensembl release 89: ENSMUSG00000045316 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: FAHD1 fumarylacetoacetate hydrolase domain containing 1" .^a b c Manjasetty BA, Niesen FH, Delbrück H, Götz F, Sievert V, Büssow K, Behlke J, Heinemann U (2004). "X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880".Biol. Chem .385 (10):935– 42.doi :10.1515/BC.2004.122 .PMID 15551868 .S2CID 16759973 . ^a b Pircher H, Straganz GD, Ehehalt D, Morrow G, Tanguay RM, Jansen-Dürr P (2011)."Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase" .J. Biol. Chem .286 (42):36500– 8.doi :10.1074/jbc.M111.264770 .PMC 3196145 .PMID 21878618 . ^ Pircher H, von Grafenstein S, Diener T, Metzger C, Albertini E, Taferner A, Unterluggauer H, Kramer C, Liedl KR, Jansen-Dürr P (2015)."Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase" .J. Biol. Chem .290 (11):6755– 62.doi :10.1074/jbc.M114.609305 .PMC 4358102 .PMID 25575590 . Hartley JL, Temple GF, Brasch MA (2001)."DNA cloning using in vitro site-specific recombination" .Genome Res .10 (11):1788– 95.doi :10.1101/gr.143000 .PMC 310948 .PMID 11076863 . Daniels RJ, Peden JF, Lloyd C, et al. (2001)."Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16" .Hum. Mol. Genet .10 (4):339– 52.doi :10.1093/hmg/10.4.339 .PMID 11157797 . Wiemann S, Weil B, Wellenreuther R, et al. (2001)."Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" .Genome Res .11 (3):422– 35.doi :10.1101/gr.GR1547R .PMC 311072 .PMID 11230166 . Simpson JC, Wellenreuther R, Poustka A, et al. (2001)."Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing" .EMBO Rep .1 (3):287– 92.doi :10.1093/embo-reports/kvd058 .PMC 1083732 .PMID 11256614 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" .Proc. Natl. Acad. Sci. U.S.A .99 (26):16899– 903.Bibcode :2002PNAS...9916899M .doi :10.1073/pnas.242603899 .PMC 139241 .PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs" .Nat. Genet .36 (1):40– 5.doi :10.1038/ng1285 .PMID 14702039 . Lehner B, Sanderson CM (2004)."A protein interaction framework for human mRNA degradation" .Genome Res .14 (7):1315– 23.doi :10.1101/gr.2122004 .PMC 442147 .PMID 15231747 . Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" .Genome Res .14 (10B):2121– 7.doi :10.1101/gr.2596504 .PMC 528928 .PMID 15489334 . Wiemann S, Arlt D, Huber W, et al. (2004)."From ORFeome to biology: a functional genomics pipeline" .Genome Res .14 (10B):2136– 44.doi :10.1101/gr.2576704 .PMC 528930 .PMID 15489336 . Manjasetty BA, Niesen FH, Delbrück H, et al. (2005). "X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880".Biol. Chem .385 (10):935– 42.doi :10.1515/BC.2004.122 .PMID 15551868 .S2CID 16759973 . Mehrle A, Rosenfelder H, Schupp I, et al. (2006)."The LIFEdb database in 2006" .Nucleic Acids Res .34 (Database issue): D415–8.doi :10.1093/nar/gkj139 .PMC 1347501 .PMID 16381901 .