FAHD1

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]

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; OMA:FAHD1 - orthologs
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 Ileal epithelium right kidney human kidney cardiac muscle tissue of left ventricle duodenum extensor digitorum longus muscle interventricular septum jejunum plantaris muscle left lobe of liver 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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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]