• Gene id: 81889

Gene Summary

• Gene Symbol: FAHD1   Gene   UCSC   Ensembl
• Aliases: C16orf36, YISKL
• Gene name: fumarylacetoacetate hydrolase domain containing 1
• Alternate names: acylpyruvase FAHD1, mitochondrial, FAH domain-containing protein 1, OAA decarboxylase, YISK like/RJD15, acylpyruvate hydrolase, fumarylacetoacetate hydrolase domain-containing protein 1, oxaloacetate decarboxylase, yisK-like protein,
• Gene location: 16p13.3 (1827223: 1840206)     Exons: 3     NC_000016.10
• OMIM: 611118

Protein Summary

• Protein general information: Q6P587  
  • Name: Acylpyruvase FAHD1, mitochondrial (EC 3.7.1.5) (Fumarylacetoacetate hydrolase domain containing protein 1) (FAH domain containing protein 1) (Oxaloacetate decarboxylase) (OAA decarboxylase) (EC 4.1.1.112) (YisK like protein)
  • Length: 224  
  • Mass: 24843
  • Tissue specificity: Ubiquitous (at protein level). {ECO
• Sequence:

  MGIMAASRPLSRFWEWGKNIVCVGRNYADHVREMRSAVLSEPVLFLKPSTAYAPEGSPILMPAYTRNLHHELELG
  VVMGKRCRAVPEAAAMDYVGGYALCLDMTARDVQDECKKKGLPWTLAKSFTASCPVSAFVPKEKIPDPHKLKLWL
  KVNGELRQEGETSSMIFSIPYIISYVSKIITLEEGDIILTGTPKGVGPVKENDEIEAGIHGLVSMTFKVEKPEY

• Structural information:
  • Interpro: IPR011234  IPR036663  
  • PDB: 1SAW 6FOG 6FOH
  • PDBsum: 1SAW 6FOG 6FOH
  • STRING: ENSP00000372112
• Other Databases: GeneCards:  FAHD1  Malacards:  FAHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018773	acetylpyruvate hydrolase activity	IBA	molecular function
GO:0016787	hydrolase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0018773	acetylpyruvate hydrolase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0034545	fumarylpyruvate hydrolase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0008948	oxaloacetate decarboxylase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0047621	acylpyruvate hydrolase activity	IEA	molecular function
GO:0008948	oxaloacetate decarboxylase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881