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Aliases for FAHD1 Gene

Aliases for FAHD1 Gene

  • Fumarylacetoacetate Hydrolase Domain Containing 1 2 3 5
  • Fumarylacetoacetate Hydrolase Domain-Containing Protein 1 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
  • Acylpyruvase FAHD1, Mitochondrial 3
  • YISK Like/RJD15 3
  • EC 3.7.1.5 4
  • EC 4.1.1.3 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 Phenylalanine metabolism and 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 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 , fRNAdb sequence ontologies and piRNA Summary for FAHD1 Gene

Genomics for FAHD1 Gene

GeneHancer (GH) Regulatory Elements for FAHD1 Gene

Promoters and enhancers for FAHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I001825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 599.3 +1.7 1674 6.9 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 FAHD1 HAGH GC16M001827 GC16M001829 ENSG00000261505 SRRM2 TELO2 ENSG00000260051 CRAMP1 ENSG00000260954
GH16I001871 Promoter/Enhancer 1.3 EPDnew Ensembl 46.6 +45.4 45350 1 HDAC1 PKNOX1 ATF1 RB1 ZBTB40 POLR2B EGR1 ATF7 CREM SMAD5 LOC102723890 MEIOB FAHD1 HAGH HS3ST6 RAB26 SNORD60 TRAF7 JPT2 LINC00254
GH16I001832 Enhancer 1.2 ENCODE dbSUPER 50 +6.5 6502 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B ZNF766 E2F8 SP5 ZNF592 KAT8 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 GC16M001829 PIR46763 GC16M001827
GH16I001769 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22 -54.4 -54390 6.4 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 EME2 NME3 MRPS34 ENSG00000260051 ENSG00000261505 CRAMP1 TELO2 SRRM2 ENSG00000260646 ENSG00000260954
GH16I001781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 25.1 -44.4 -44420 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 E2F8 NUBP2 SPSB3 TBL3 FAHD1 EME2 CRAMP1 IFT140 AMDHD2 HAGH ENSG00000260646
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAHD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAHD1 gene promoter:

Genomic Locations for FAHD1 Gene

Genomic Locations for FAHD1 Gene
chr16:1,826,941-1,840,207
(GRCh38/hg38)
Size:
13,267 bases
Orientation:
Plus strand
chr16:1,876,968-1,890,208
(GRCh37/hg19)

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:
    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

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:

Graphical View of Domain Structure for InterPro Entry

Q6P587

UniProtKB/Swiss-Prot:

FAHD1_HUMAN :
  • Belongs to the FAH family.
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 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

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 IEA,IDA 25575590
GO:0016787 hydrolase activity IEA --
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

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

COMPARTMENTS
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
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1

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 IEA,IDA 21878618
GO:0005743 mitochondrial inner membrane IEA --
GO:0005829 cytosol IEA,IDA 21878618
genes like me logo Genes that share ontologies with FAHD1: view

Pathways & Interactions for FAHD1 Gene

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:0008152 metabolic process IEA --
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
Water Approved Pharma 0
calcium Approved Nutra 0
Magnesium Approved Nutra 0
Pyruvic acid Approved, Investigational Nutra 0
SB-649868 Experimental, Investigational Pharma Antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Fumarylpyruvate
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:

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
FAHD1
ECgene alternative splicing isoforms for
FAHD1

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, PaxDb, 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:

FAHD1

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).

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
chimpanzee
(Pan troglodytes)
Mammalia FAHD1 33 34
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia FAHD1 33 34
  • 90.05 (n)
dog
(Canis familiaris)
Mammalia FAHD1 33
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Fahd1 33
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Fahd1 33 16 34
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia FAHD1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAHD1 33 34
  • 74.16 (n)
lizard
(Anolis carolinensis)
Reptilia FAHD1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fahd1 33
  • 67.28 (n)
zebrafish
(Danio rerio)
Actinopterygii fahd1 33 34
  • 66.82 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10415 33
fruit fly
(Drosophila melanogaster)
Insecta CG5793 33 34
  • 56.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001942 33
  • 53.27 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK688.3 33
  • 50.08 (n)
fahd-1 34
  • 45 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08052g 33
  • 51.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP41 33 34
  • 51.12 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G15940 33
  • 55.5 (n)
rice
(Oryza sativa)
Liliopsida Os03g0829000 33
  • 58.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03283 33
  • 58.95 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21C3.09c 33
  • 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

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

Paralogs for FAHD1 Gene

Paralogs for FAHD1 Gene

(2) 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 Variation AA Info Type
rs1000004031 -- 1,828,829(+) G/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
FAHD1

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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for FAHD1 Gene

  • Addgene plasmids for FAHD1

Sources for FAHD1 Gene

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