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FAHD1 fumarylacetoacetate hydrolase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 81889, updated on 28-Oct-2024

Summary

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Official Symbol
FAHD1provided by HGNC
Official Full Name
fumarylacetoacetate hydrolase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:14169
See related
Ensembl:ENSG00000180185 MIM:616320; AllianceGenome:HGNC:14169
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ODx; YISKL; C16orf36
Summary
Enables hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances; oxaloacetate decarboxylase activity; and oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See FAHD1 in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1827206..1840207)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1842993..1856076)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1877207..1890208)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1859423-1859585 Neighboring gene hydroxyacylglutathione hydrolase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10240 Neighboring gene Sharpr-MPRA regulatory region 12541 Neighboring gene meiosis specific with OB-fold Neighboring gene long intergenic non-protein coding RNA 254 Neighboring gene long intergenic non-protein coding RNA 2124

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma. Heberle A, et al. Sci Rep, 2024 Apr 22. PMID 38649439, Free PMC Article
  2. Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells. Petit M, et al. Exp Gerontol, 2017 Jun. PMID 28286170
  3. Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence. Etemad S, et al. Mech Ageing Dev, 2019 Jan. PMID 30055189
  4. Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1. Weiss AKH, et al. Biochem J, 2018 Nov 20. PMID 30348641, Free PMC Article
  5. X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. Manjasetty BA, et al. Biol Chem, 2004 Oct. PMID 15551868

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.
    Title: Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.
  2. 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.
  3. Data indicate that FAH domain-containing protein 1 (FAHD1) is a mitochondrial protein displaying both acylpyruvate hydrolase (ApH) and oxaloacetate decarboxylase (ODx) activity.
    Title: Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1.
  4. genetic inactivation of FAHD1 in human cells induces a specific form of cellular senescence.
    Title: Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.
  5. The results indicate that FAHD1 is required for mitochondrial function in human cells and provide additional support to the growing evidence that mitochondrial dysfunction can induce cellular senescence by metabolic alterations independent of the DNA damage response pathway.
    Title: Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.
  6. we recently identified human FAH domain containing protein-1 (FAHD1) as the first eukaryotic oxaloacetate decarboxylase..these data establish a role of fahd-1 to maintain mitochondrial function and consequently physical activity
    Title: FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC74876, DKFZp566J2046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylpyruvate hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acetylpyruvate hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables acylpyruvate hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables fumarylpyruvate hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxaloacetate decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxaloacetate tautomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in oxaloacetate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyruvate metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
oxaloacetate tautomerase FAHD1, mitochondrial
Names
FAH domain-containing protein 1
OAA decarboxylase
YISK like/RJD15
acylpyruvase FAHD1, mitochondrial
acylpyruvate hydrolase
fumarylacetoacetate hydrolase domain-containing protein 1
oxaloacetate decarboxylase
oxaloacetate decarboxylase, mitochondrial
yisK-like protein
NP_001018114.2
NP_001135870.2
NP_112485.2
XP_047290685.1
XP_047290686.1
XP_054170050.1
XP_054170051.1

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.

mRNA and Protein(s)

  1. NM_001018104.3 → NP_001018114.2  oxaloacetate tautomerase FAHD1, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC012180, AL031722
    Consensus CDS
    CCDS32367.2
    Related
    ENSP00000372112.5, ENST00000382666.6
    Conserved Domains (1) summary
    COG0179
    Location:16 → 209
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

  2. NM_001142398.2 → NP_001135870.2  oxaloacetate tautomerase FAHD1, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC012180, AL031722
    Consensus CDS
    CCDS45380.2
    Related
    ENSP00000372114.5, ENST00000382668.8
    Conserved Domains (1) summary
    COG0179
    Location:16 → 209
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

  3. NM_031208.4 → NP_112485.2  oxaloacetate tautomerase FAHD1, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC012180
    Consensus CDS
    CCDS10448.2
    UniProtKB/Swiss-Prot
    B1AK40, B1AK41, Q6FIC7, Q6P587, Q96RY1, Q9H0N6
    Related
    ENSP00000398053.3, ENST00000427358.5
    Conserved Domains (1) summary
    COG0179
    Location:16 → 220
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1827206..1840207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434729.1 → XP_047290685.1  oxaloacetate tautomerase FAHD1, mitochondrial isoform X1

  2. XM_047434730.1 → XP_047290686.1  oxaloacetate tautomerase FAHD1, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1842993..1856076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314075.1 → XP_054170050.1  oxaloacetate tautomerase FAHD1, mitochondrial isoform X1

  2. XM_054314076.1 → XP_054170051.1  oxaloacetate tautomerase FAHD1, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P587.3 GenPept UniProtKB/Swiss-Prot:Q6P587

Gene LinkOut

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