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FH fumarate hydratase [ Homo sapiens (human) ]

Gene ID: 2271, updated on 11-May-2021

Summary

Official Symbol
FHprovided by HGNC
Official Full Name
fumarate hydrataseprovided by HGNC
Primary source
HGNC:HGNC:3700
See related
Ensembl:ENSG00000091483 MIM:136850
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
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Genomic context

Location:
1q43
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (241497603..241519755, complement)
105.20201022 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 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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fumarate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in fumarate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of 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)

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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.

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
    P07954
    UniProtKB/TrEMBL
    A0A0S2Z4C3
    Related
    ENSP00000355518.4, ENST00000366560.4
    Conserved Domains (1) summary
    PRK00485
    Location:49510
    fumC; fumarate hydratase; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    241497603..241519755 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

    Related
    ENST00000493477.2
    Conserved Domains (2) summary
    cd01362
    Location:1430
    Fumarase_classII; Class II fumarases
    PRK00485
    Location:2434
    fumC; fumarate hydratase; Reviewed
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