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Aliases for FAHD1 Gene

Aliases for FAHD1 Gene

  • Fumarylacetoacetate Hydrolase Domain Containing 1 2 3
  • Fumarylacetoacetate Hydrolase Domain-Containing Protein 1 3 4
  • Acylpyruvate Hydrolase 2 3
  • YisK-Like Protein 3 4
  • C16orf36 3 4
  • YISKL 3 4
  • Chromosome 16 Open Reading Frame 36 2
  • Acylpyruvase FAHD1, Mitochondrial 3
  • Oxaloacetate Decarboxylase 4
  • OAA Decarboxylase 4
  • YISK Like/RJD15 3
  • EC 3.7.1.5 4
  • EC 4.1.1.3 4

External Ids for FAHD1 Gene

Previous Symbols for FAHD1 Gene

  • C16orf36

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. GO annotations related to this gene include acetylpyruvate hydrolase activity and acylpyruvate hydrolase activity. An important paralog of this gene is FAHD2B.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAHD1 Gene

Genomics for FAHD1 Gene

Genomic Location for FAHD1 Gene

Start:
1,826,941 bp from pter
End:
1,840,207 bp from pter
Size:
13,267 bases
Orientation:
Plus strand

Genomic View for FAHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAHD1 Gene

Regulatory Elements for FAHD1 Gene

Proteins for FAHD1 Gene

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

    Protein Symbol:
    Q6P587-FAHD1_HUMAN
    Recommended name:
    Acylpyruvase FAHD1, mitochondrial
    Protein Accession:
    Q6P587
    Secondary Accessions:
    • B1AK40
    • B1AK41
    • Q6FIC7
    • Q96RY1
    • Q9H0N6

    Protein attributes for FAHD1 Gene

    Size:
    224 amino acids
    Molecular mass:
    24843 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for FAHD1 Gene

Proteomics data for FAHD1 Gene at MOPED

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 for FAHD1 Gene

Protein Domains for FAHD1 Gene

UniProtKB/Swiss-Prot:

FAHD1_HUMAN
Family:
  • Belongs to the FAH family.:
    • Q6P587
genes like me logo Genes that share domains with FAHD1: view

No data available for Gene Families for FAHD1 Gene

Function for FAHD1 Gene

Molecular function for FAHD1 Gene

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};
UniProtKB/Swiss-Prot CatalyticActivity: A 3-acylpyruvate + H(2)O = a carboxylate + pyruvate.
UniProtKB/Swiss-Prot CatalyticActivity: Oxaloacetate = pyruvate + CO(2).
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).

Enzyme Numbers (IUBMB) for FAHD1 Gene

Gene Ontology (GO) - Molecular Function for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0008948 oxaloacetate decarboxylase activity IDA 25575590
GO:0018773 acetylpyruvate hydrolase activity IDA 21878618
GO:0034545 fumarylpyruvate hydrolase activity IDA 21878618
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FAHD1: view

miRNA for FAHD1 Gene

miRTarBase miRNAs that target FAHD1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for FAHD1 Gene COMPARTMENTS Subcellular localization image for FAHD1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 3
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with FAHD1: view

Pathways for FAHD1 Gene

SuperPathways for FAHD1 Gene

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

Pathways by source for FAHD1 Gene

2 KEGG pathways for FAHD1 Gene

Interacting Proteins for FAHD1 Gene

Gene Ontology (GO) - Biological Process for FAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FAHD1: view

Compounds for FAHD1 Gene

(2) HMDB Compounds for FAHD1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
genes like me logo Genes that share compounds with FAHD1: view

Transcripts for FAHD1 Gene

Unigene Clusters for FAHD1 Gene

Fumarylacetoacetate hydrolase domain containing 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for FAHD1 Gene

GeneLoc Exon Structure for
FAHD1
ECgene alternative splicing isoforms for
FAHD1

Expression for FAHD1 Gene

mRNA expression in normal human tissues for FAHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAHD1 Gene

SOURCE GeneReport for Unigene cluster for FAHD1 Gene Hs.513265

mRNA Expression by UniProt/SwissProt for FAHD1 Gene

Q6P587-FAHD1_HUMAN
Tissue specificity: Ubiquitous (at protein level).
genes like me logo Genes that share expressions with FAHD1: view

Orthologs for FAHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAHD1 36
  • 99.26 (n)
  • 99.11 (a)
FAHD1 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAHD1 36
  • 90.05 (n)
  • 93.21 (a)
FAHD1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAHD1 36
  • 89.35 (n)
  • 90.41 (a)
mouse
(Mus musculus)
Mammalia Fahd1 36
  • 83.86 (n)
  • 87.78 (a)
Fahd1 16
Fahd1 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAHD1 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 35 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fahd1 36
  • 84.46 (n)
  • 88.24 (a)
chicken
(Gallus gallus)
Aves FAHD1 36
  • 74.16 (n)
  • 74.31 (a)
FAHD1 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAHD1 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fahd1 36
  • 67.28 (n)
  • 67.13 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10415 36
zebrafish
(Danio rerio)
Actinopterygii fahd1 36
  • 66.82 (n)
  • 67.13 (a)
fahd1 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001942 36
  • 53.27 (n)
  • 43.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5793 36
  • 56.03 (n)
  • 49.52 (a)
CG5793 37
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fahd-1 37
  • 45 (a)
OneToOne
ZK688.3 36
  • 50.08 (n)
  • 46.92 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP41 36
  • 51.12 (n)
  • 42.79 (a)
FMP41 37
  • 31 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08052g 36
  • 51.2 (n)
  • 44.5 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15940 36
  • 55.5 (n)
  • 53.49 (a)
rice
(Oryza sativa)
Liliopsida Os03g0829000 36
  • 58.25 (n)
  • 53.81 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03283 36
  • 58.95 (n)
  • 51.58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21C3.09c 36
  • 49.65 (n)
  • 44.15 (a)
Species with no ortholog for FAHD1:
  • 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

ENSEMBL:
Gene Tree for FAHD1 (if available)
TreeFam:
Gene Tree for FAHD1 (if available)

Paralogs for FAHD1 Gene

Paralogs for FAHD1 Gene

Selected SIMAP similar genes for FAHD1 Gene using alignment to 1 proteins:

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs238677 -- 1,833,278(-) TGAGC(A/G)TGCCT intron-variant
rs238681 -- 1,830,154(-) TGGGC(A/G)CGGTG intron-variant
rs1742413 -- 1,830,945(+) cacac(A/C)cCCAT intron-variant
rs3895165 -- 1,831,899(-) ggggc(A/G)gggat intron-variant
rs3903205 -- 1,831,703(-) GCTCC(A/G)TTTGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv904954 CNV Loss 21882294
nsv905017 CNV Loss 21882294
nsv518641 CNV Loss 19592680
nsv517196 CNV Gain+Loss 19592680
nsv905023 CNV Gain 21882294
dgv2539n71 CNV Loss 21882294
dgv2540n71 CNV Loss 21882294
nsv905034 CNV Loss 21882294
nsv905042 CNV Loss 21882294
nsv457337 CNV Loss 19166990
nsv905043 CNV Loss 21882294
dgv335n27 CNV Gain 19166990
esv33055 CNV Loss 17666407
nsv833119 CNV Loss 17160897
esv2671641 CNV Deletion 23128226
nsv905044 CNV Loss 21882294

Relevant External Links for FAHD1 Gene

HapMap Linkage Disequilibrium report
FAHD1

Disorders for FAHD1 Gene

Relevant External Links for FAHD1

Genetic Association Database (GAD)
FAHD1
Human Genome Epidemiology (HuGE) Navigator
FAHD1
genes like me logo Genes that share disorders with FAHD1: view

No data available for UniProtKB/Swiss-Prot 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-Durr P. (J. Biol. Chem. 2011) 2 3 4
  2. X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. (PMID: 15551868) Manjasetty B.A. … Heinemann U. (Biol. Chem. 2004) 3 4
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for FAHD1 Gene

  • Addgene plasmids for FAHD1

Sources for FAHD1 Gene

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