FAHD1

FAHD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1SAW
Identifiers
Aliases	FAHD1 , C16orf36, YISKL, fumarylacetoacetate hydrolase domain containing 1
External IDs	OMIM: 616320 MGI: 1915886 HomoloGene: 6774 GeneCards: FAHD1
EC number	4.1.1.112
Gene location (Mouse) Chr. Chromosome 17 (mouse) [1] Band 17|17 A3.3 Start 25,067,866 bp [1] End 25,069,338 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell jejunal mucosa endothelial cell duodenum kidney renal medulla vastus lateralis muscle human penis liver right ventricle Top expressed in kidney duodenum extensor digitorum longus muscle interventricular septum jejunum plantaris muscle left lobe of liver proximal tubule extraocular muscle soleus muscle More reference expression data BioGPS n/a
Gene ontology Molecular function acetylpyruvate hydrolase activity acylpyruvate hydrolase activity catalytic activity hydrolase activity fumarylpyruvate hydrolase activity metal ion binding lyase activity oxaloacetate decarboxylase activity Cellular component cytosol mitochondrion nucleoplasm cytoplasm mitochondrial matrix Biological process metabolism tricarboxylic acid cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81889 68636 Ensembl n/a ENSMUSG00000045316 UniProt Q6P587 Q8R0F8 RefSeq (mRNA) NM_031208 NM_001018104 NM_001142398 NM_023480 RefSeq (protein) NP_001018114 NP_001135870 NP_112485 NP_075969 Location (UCSC) n/a Chr 17: 25.07 – 25.07 Mb PubMed search [2] [3]
Wikidata
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Fumarylacetoacetate hydrolase domain-containing protein 1, also known as FLJ36880 protein, is an enzyme that in humans is encoded by the FAHD1 gene on chromosome 16. ^[4]

Structure

The FAHD1 gene encodes for a 24-kDa protein that is localized to the mitochondrion and belongs to the fumarylacetoacetate hydrolase family of proteins. ^[5] The structure of FAHD1 has been resolved using X-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]

Function

The FAHD1 protein has been shown to function as an oxaloacetate decarboxylase in eukaryotes. ^[7] The FAHD1 protein probably also functions as an acylpyruvase, having been shown to catalyze the hydrolysis of acetylpyruvate and fumarylpyruvate in in vitro experiments. ^[5] Mg(2+) was required for maximal enzyme activity. ^[6]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000045316 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: FAHD1 fumarylacetoacetate hydrolase domain containing 1".
5. 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.
6. 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.
7. 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.

Further reading

• 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.