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

    Gene ID: 81889, updated on 10-Dec-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, Dec 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
    • 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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