Aliases for FAHD1 Gene

Aliases for FAHD1 Gene

  • Fumarylacetoacetate Hydrolase Domain Containing 1 2 3 5
  • Fumarylacetoacetate Hydrolase Domain-Containing Protein 1 3 4
  • Acylpyruvase FAHD1, Mitochondrial 3 4
  • FAH Domain-Containing Protein 1 3 4
  • Oxaloacetate Decarboxylase 3 4
  • Acylpyruvate Hydrolase 2 3
  • YisK-Like Protein 3 4
  • OAA Decarboxylase 3 4
  • C16orf36 3 4
  • YISKL 3 4
  • Chromosome 16 Open Reading Frame 36 2
  • YISK Like/RJD15 3
  • EC 4
  • EC 4

External Ids for FAHD1 Gene

Previous HGNC Symbols for FAHD1 Gene

  • C16orf36

Previous GeneCards Identifiers for FAHD1 Gene

  • GC16P001818
  • GC16P001876

Summaries for FAHD1 Gene

GeneCards Summary for FAHD1 Gene

FAHD1 (Fumarylacetoacetate Hydrolase Domain Containing 1) is a Protein Coding gene. Among its related pathways are Metabolism and Phenylalanine metabolism. Gene Ontology (GO) annotations related to this gene include oxaloacetate decarboxylase activity and fumarylpyruvate hydrolase activity. An important paralog of this gene is FAHD2A.

UniProtKB/Swiss-Prot Summary for FAHD1 Gene

  • Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity (PubMed:25575590).

Gene Wiki entry for FAHD1 Gene

Additional gene information for FAHD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAHD1 Gene

Genomics for FAHD1 Gene

GeneHancer (GH) Regulatory Elements for FAHD1 Gene

Promoters and enhancers for FAHD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAHD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAHD1 gene promoter:
  • AML1a
  • HEN1
  • HFH-1
  • MRF-2
  • p53
  • SRF
  • SRF (504 AA)
  • XBP-1
  • YY1

Genomic Locations for FAHD1 Gene

Genomic Locations for FAHD1 Gene
13,267 bases
Plus strand
13,241 bases
Plus strand

Genomic View for FAHD1 Gene

Genes around FAHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAHD1 Gene

Proteins for FAHD1 Gene

  • Protein details for FAHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acylpyruvase FAHD1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B1AK40
    • B1AK41
    • Q6FIC7
    • Q96RY1
    • Q9H0N6

    Protein attributes for FAHD1 Gene

    224 amino acids
    Molecular mass:
    24843 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    • Sequence=AAK61295.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAHD1 Gene

    Alternative splice isoforms for FAHD1 Gene


neXtProt entry for FAHD1 Gene

Post-translational modifications for FAHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAHD1 Gene

No data available for DME Specific Peptides for FAHD1 Gene

Domains & Families for FAHD1 Gene

Gene Families for FAHD1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for FAHD1 Gene

Suggested Antigen Peptide Sequences for FAHD1 Gene

GenScript: Design optimal peptide antigens:
  • YisK-like protein (FAHD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAH family.
  • Belongs to the FAH family.
genes like me logo Genes that share domains with FAHD1: view

Function for FAHD1 Gene

Molecular function for FAHD1 Gene

UniProtKB/Swiss-Prot Function:
Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity (PubMed:25575590).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-acylpyruvate + H2O = a carboxylate + H(+) + pyruvate; Xref=Rhea:RHEA:19009, ChEBI:CHEBI:15361, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:57278; EC=; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxaloacetate = CO2 + pyruvate; Xref=Rhea:RHEA:15641, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:16526; EC=; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.6 uM for acetylpyruvate {ECO:0000269 PubMed:21878618}; KM=32 uM for oxaloacetate {ECO:0000269 PubMed:25575590}; Vmax=0.135 umol/min/mg enzyme toward acetylpyruvate {ECO:0000269 PubMed:21878618}; Vmax=0.21 umol/min/mg enzyme with oxaloacetate as substrate {ECO:0000269 PubMed:25575590};

Enzyme Numbers (IUBMB) for FAHD1 Gene

Phenotypes From GWAS Catalog for FAHD1 Gene

Gene Ontology (GO) - Molecular Function for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008948 oxaloacetate decarboxylase activity IDA 25575590
GO:0016787 hydrolase activity IBA 21873635
GO:0016829 lyase activity IEA --
GO:0018773 acetylpyruvate hydrolase activity IDA 21878618
GO:0034545 fumarylpyruvate hydrolase activity IDA 21878618
genes like me logo Genes that share ontologies with FAHD1: view
genes like me logo Genes that share phenotypes with FAHD1: view

Animal Model Products

CRISPR Products

miRNA for FAHD1 Gene

miRTarBase miRNAs that target FAHD1

Clone Products

  • Addgene plasmids for FAHD1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAHD1 Gene

Localization for FAHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAHD1 Gene

Mitochondrion. Cytoplasm, cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAHD1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
extracellular 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IBA 21878618
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA,IEA 21878618
genes like me logo Genes that share ontologies with FAHD1: view

Pathways & Interactions for FAHD1 Gene

PathCards logo

SuperPathways for FAHD1 Gene

SuperPathway Contained pathways
1 Metabolism
2 Phenylalanine metabolism
genes like me logo Genes that share pathways with FAHD1: view

Pathways by source for FAHD1 Gene

2 KEGG pathways for FAHD1 Gene

Gene Ontology (GO) - Biological Process for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS --
genes like me logo Genes that share ontologies with FAHD1: view

No data available for SIGNOR curated interactions for FAHD1 Gene

Drugs & Compounds for FAHD1 Gene

(5) Drugs for FAHD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7773
Pyruvic acid Approved, Investigational Nutra 0
Maleic acid Experimental, Investigational Pharma 329

(1) Additional Compounds for FAHD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FAHD1: view

Transcripts for FAHD1 Gene

mRNA/cDNA for FAHD1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for FAHD1

Alternative Splicing Database (ASD) splice patterns (SP) for FAHD1 Gene

No ASD Table

Relevant External Links for FAHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAHD1 Gene

This gene is overexpressed in Liver, secretome (16.3) and Gallbladder (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAHD1 Gene

Protein tissue co-expression partners for FAHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAHD1 Gene:


SOURCE GeneReport for Unigene cluster for FAHD1 Gene:


mRNA Expression by UniProt/SwissProt for FAHD1 Gene:

Tissue specificity: Ubiquitous (at protein level).

Evidence on tissue expression from TISSUES for FAHD1 Gene

  • Kidney(4.3)
  • Liver(4.3)
  • Pancreas(4.1)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with FAHD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAHD1 Gene

Orthologs for FAHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAHD1 33 32
  • 99.26 (n)
(Bos Taurus)
Mammalia FAHD1 33 32
  • 90.05 (n)
(Canis familiaris)
Mammalia FAHD1 32
  • 89.35 (n)
(Rattus norvegicus)
Mammalia Fahd1 32
  • 84.46 (n)
(Mus musculus)
Mammalia Fahd1 17 33 32
  • 83.86 (n)
(Monodelphis domestica)
Mammalia FAHD1 33
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 35 (a)
(Gallus gallus)
Aves FAHD1 33 32
  • 74.16 (n)
(Anolis carolinensis)
Reptilia FAHD1 33
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fahd1 32
  • 67.28 (n)
(Danio rerio)
Actinopterygii fahd1 33 32
  • 66.82 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10415 32
fruit fly
(Drosophila melanogaster)
Insecta CG5793 33 32
  • 56.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001942 32
  • 53.27 (n)
(Caenorhabditis elegans)
Secernentea ZK688.3 32
  • 50.08 (n)
fahd-1 33
  • 45 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08052g 32
  • 51.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP41 33 32
  • 51.12 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15940 32
  • 55.5 (n)
(Oryza sativa)
Liliopsida Os03g0829000 32
  • 58.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03283 32
  • 58.95 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21C3.09c 32
  • 49.65 (n)
Species where no ortholog for FAHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAHD1 Gene

Gene Tree for FAHD1 (if available)
Gene Tree for FAHD1 (if available)
Evolutionary constrained regions (ECRs) for FAHD1: view image

Paralogs for FAHD1 Gene

Paralogs for FAHD1 Gene

(2) SIMAP similar genes for FAHD1 Gene using alignment to 1 proteins:

  • FAHD1_HUMAN Pseudogenes for FAHD1 Gene

genes like me logo Genes that share paralogs with FAHD1: view

Variants for FAHD1 Gene

Sequence variations from dbSNP and Humsavar for FAHD1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000004031 -- 1,828,829(+) G/A/T 3_prime_UTR_variant, intron_variant
rs1000022022 -- 1,836,988(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000056645 -- 1,828,977(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000399477 -- 1,832,012(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000418949 -- 1,832,450(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAHD1 Gene

Variant ID Type Subtype PubMed ID
dgv335n27 CNV gain 19166990
dgv4857n54 CNV loss 21841781
dgv778e212 CNV loss 25503493
esv2422427 CNV duplication 17116639
esv2671641 CNV deletion 23128226
esv33055 CNV loss 17666407
esv3553003 CNV deletion 23714750
nsv1040440 CNV gain 25217958
nsv1042986 CNV loss 25217958
nsv1051692 CNV loss 25217958
nsv457337 CNV loss 19166990
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571175 CNV loss 21841781
nsv571177 CNV gain 21841781
nsv833119 CNV loss 17160897
nsv952900 CNV deletion 24416366

Variation tolerance for FAHD1 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAHD1 Gene

Disorders for FAHD1 Gene

Additional Disease Information for FAHD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAHD1 Gene

Publications for FAHD1 Gene

  1. Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase. (PMID: 21878618) Pircher H … Jansen-Dürr P (The Journal of biological chemistry 2011) 2 3 4 56
  2. Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase. (PMID: 25575590) Pircher H … Jansen-Dürr P (The Journal of biological chemistry 2015) 3 4 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for FAHD1 Gene

Sources for FAHD1 Gene