Fahd1 fumarylacetoacetate hydrolase domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fahd1provided by MGI
Official Full Name: fumarylacetoacetate hydrolase domain containing 1provided by MGI
Primary source: MGI:MGI:1915886
See related: Ensembl:ENSMUSG00000045316 AllianceGenome:MGI:1915886
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1110025H10Rik
Summary: Predicted to enable acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; and oxaloacetate decarboxylase activity. Located in mitochondrial inner membrane. Orthologous to human FAHD1 (fumarylacetoacetate hydrolase domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 12.53 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (25067866..25069276, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (24848896..24850302, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High Glycolytic Activity Enhances Stem Cell Reprogramming of Fahd1-KO Mouse Embryonic Fibroblasts.
Title: High Glycolytic Activity Enhances Stem Cell Reprogramming of Fahd1-KO Mouse Embryonic Fibroblasts.
Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.
Title: Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.
Based on molecular modeling and subsequent biochemical investigations, the study identified FAHD1 as a eukaryotic oxaloacetate decarboxylase enzyme.
Title: Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.
identified mammalian FAHD1 as a novel mitochondrial enzyme with acylpyruvate hydrolase activity.
Title: Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylpyruvate hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylpyruvate hydrolase activity	ISO Inferred from Sequence Orthology more info
enables acylpyruvate hydrolase activity	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables fumarylpyruvate hydrolase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxaloacetate decarboxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables oxaloacetate decarboxylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in pyruvate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
is_active_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: acylpyruvase FAHD1, mitochondrial

Names: OAA decarboxylase; fumarylacetoacetate hydrolase domain-containing protein 1; oxaloacetate decarboxylase

NP_075969.2

EC 3.7.1.5

EC 4.1.1.112

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.