Gen FAHD1 kodira protein od 24 kDa koji je lokaliziran u mitohondrijama i pripada proteinskoj porodici fumarilacetoacetat-hidrolaza .[ 5] Struktura FAHD1 razriješena je primjenom rendgenske kristalografije pri rezoluciji od 2,2 Å. Ukupna struktura slična je C-terminalnom domenu bifunkcionalnog enzima HpcE iz Escherichia coli C, fumarilacetoacetat-hidrolaze Mus musculus i YcgM (Apc5008) iz E. coli 1262.[ 5] Za njegovu katalitsku aktivnost , čini se važnim broj konzerviranih aminokiselina, uključujući Asp-102 i Arg-106 FAHD1.[ 6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 224 aminokiseline , a molekulska težina 24.843 Da .[ 7] .
10 20 30 40 50
MGIMAASRPL SRFWEWGKNI VCVGRNYADH VREMRSAVLS EPVLFLKPST
AYAPEGSPIL MPAYTRNLHH ELELGVVMGK RCRAVPEAAA MDYVGGYALC
LDMTARDVQD ECKKKGLPWT LAKSFTASCP VSAFVPKEKI PDPHKLKLWL
KVNGELRQEG ETSSMIFSIP YIISYVSKII TLEEGDIILT GTPKGVGPVK
ENDEIEAGIH GLVSMTFKVE KPEY
Simboli
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045316 - Ensembl , maj 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 .
^ "UniProt, Q6P587" . Pristupljeno 5. 7. 2021 .
^ 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 .
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