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

    Gene ID: 81889, updated on 6-May-2024

    Summary

    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
    YISKL; C16orf36
    Summary
    Enables acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; and oxaloacetate decarboxylase activity. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FAHD1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1827206..1840207)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1842993..1856076)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Process Evidence Code Pubs
    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
     
    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

    Preferred Names
    acylpyruvase FAHD1, mitochondrial
    Names
    FAH domain-containing protein 1
    OAA decarboxylase
    YISK like/RJD15
    acylpyruvate hydrolase
    fumarylacetoacetate hydrolase domain-containing protein 1
    oxaloacetate decarboxylase
    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)

    NEW Try the new Transcript table

    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_001018104.3NP_001018114.2  acylpyruvase 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:16209
      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_001142398.2NP_001135870.2  acylpyruvase 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:16209
      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_031208.4NP_112485.2  acylpyruvase 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:16220
      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_2023_10

    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_047434729.1XP_047290685.1  acylpyruvase FAHD1, mitochondrial isoform X1

    2. XM_047434730.1XP_047290686.1  acylpyruvase 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_054314075.1XP_054170050.1  acylpyruvase FAHD1, mitochondrial isoform X1

    2. XM_054314076.1XP_054170051.1  acylpyruvase FAHD1, mitochondrial isoform X1