Jump to content

FAHD1

From Wikipedia, the free encyclopedia
FAHD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFAHD1, C16orf36, YISKL, fumarylacetoacetate hydrolase domain containing 1
External IDsOMIM: 616320; MGI: 1915886; HomoloGene: 6774; GeneCards: FAHD1; OMA:FAHD1 - orthologs
EC number4.1.1.112
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031208
NM_001018104
NM_001142398

NM_023480

RefSeq (protein)

NP_001018114
NP_001135870
NP_112485

NP_075969

Location (UCSC)n/aChr 17: 25.07 – 25.07 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

[edit]

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

[edit]

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

[edit]
  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045316Ensembl, 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. ^ 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.
  6. ^ 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.
  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

[edit]