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    FH fumarate hydratase [ Homo sapiens (human) ]

    Gene ID: 2271, updated on 10-Dec-2024

    Summary

    Official Symbol
    FHprovided by HGNC
    Official Full Name
    fumarate hydrataseprovided by HGNC
    Primary source
    HGNC:HGNC:3700
    See related
    Ensembl:ENSG00000091483 MIM:136850; AllianceGenome:HGNC:3700
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCL; FMRD; HsFH; LRCC; HLRCC; MCUL1
    Summary
    The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 49.3), liver (RPKM 41.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    1q43
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241497603..241519755, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (240909033..240931170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (241660903..241683055, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 7 Neighboring gene MPRA-validated peak795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2006 Neighboring gene uncharacterized LOC124904601 Neighboring gene ribosomal protein L36 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr1:241581573-241582074 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:241602586-241603173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2007 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:241682833-241683429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241802798-241803368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241803369-241803938 Neighboring gene kynurenine 3-monooxygenase Neighboring gene opsin 3 Neighboring gene CHM like Rab escort protein

    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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-06)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of fumarate hydratase (FH, mitochondrial) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fumarate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fumarate hydratase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fumarate hydratase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in arginine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fumarate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fumarate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in malate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of arginine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of urea cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in urea cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    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 nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fumarate hydratase, mitochondrial
    Names
    epididymis secretory sperm binding protein
    fumarase
    NP_000134.2

    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.

    Genomic

    1. NG_012338.1 RefSeqGene

      Range
      4970..27198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_504

    mRNA and Protein(s)

    1. NM_000143.4NP_000134.2  fumarate hydratase, mitochondrial

      See identical proteins and their annotated locations for NP_000134.2

      Status: REVIEWED

      Source sequence(s)
      AA669797, BC003108, DA129148
      Consensus CDS
      CCDS1617.1
      UniProtKB/Swiss-Prot
      B1ANK7, P07954
      UniProtKB/TrEMBL
      A0A0S2Z4C3, A0A804HI24
      Related
      ENSP00000355518.4, ENST00000366560.4
      Conserved Domains (1) summary
      PRK00485
      Location:49510
      fumC; fumarate hydratase; Reviewed

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      241497603..241519755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      240909033..240931170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)