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    FH fumarate hydratase [ Homo sapiens (human) ]

    Gene ID: 2271, updated on 8-Oct-2018

    Summary

    Official Symbol
    FHprovided by HGNC
    Official Full Name
    fumarate hydrataseprovided by HGNC
    Primary source
    HGNC:HGNC:3700
    See related
    Ensembl:ENSG00000091483 MIM:136850; Vega:OTTHUMG00000039597
    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; 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

    Genomic context

    Location:
    1q43
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (241497557..241519785, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (241660857..241683085, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 7 Neighboring gene ribosomal protein L36 pseudogene 6 Neighboring gene uncharacterized LOC105373230 Neighboring gene uncharacterized LOC105373233 Neighboring gene kynurenine 3-monooxygenase Neighboring gene opsin 3 Neighboring gene CHM like, Rab escort protein 2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fumarate hydratase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    fumarate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    fumarate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    tricarboxylic acid cycle enzyme complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    fumarate hydratase, mitochondrial
    Names
    epididymis secretory sperm binding protein
    fumarase
    NP_000134.2
    XP_011542434.1

    NCBI Reference Sequences (RefSeq)

    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_000143.3NP_000134.2  fumarate hydratase, mitochondrial

      See identical proteins and their annotated locations for NP_000134.2

      Status: REVIEWED

      Source sequence(s)
      AA669797, AW611924, BC003108, DA129148
      Consensus CDS
      CCDS1617.1
      UniProtKB/Swiss-Prot
      P07954
      UniProtKB/TrEMBL
      A0A0S2Z4C3
      Related
      ENSP00000355518.3, OTTHUMP00000037573, ENST00000366560.3, OTTHUMT00000095490
      Conserved Domains (1) summary
      PRK00485
      Location:49510
      fumC; fumarate hydratase; Reviewed

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      241497557..241519785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544132.2XP_011542434.1  fumarate hydratase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542434.1

      Conserved Domains (2) summary
      cd01362
      Location:1430
      Fumarase_classII; Class II fumarases
      PRK00485
      Location:2434
      fumC; fumarate hydratase; Reviewed
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