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Fh1 fumarate hydratase 1 [ Mus musculus (house mouse) ]

Gene ID: 14194, updated on 1-Mar-2024

Summary

Official Symbol
Fh1provided by MGI
Official Full Name
fumarate hydratase 1provided by MGI
Primary source
MGI:MGI:95530
See related
Ensembl:ENSMUSG00000026526 AllianceGenome:MGI:95530
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fh; Fh-1
Summary
Enables fumarate hydratase activity. Involved in fumarate metabolic process; positive regulation of cold-induced thermogenesis; and regulation of arginine metabolic process. Acts upstream of or within homeostasis of number of cells within a tissue. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in fumarase deficiency and lung non-small cell carcinoma. Orthologous to human FH (fumarate hydratase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 118.0), placenta adult (RPKM 84.7) and 28 other tissues See more
Orthologs
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Genomic context

See Fh1 in Genome Data Viewer
Location:
1 H3; 1 81.58 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (175428944..175453201, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (175601378..175625635, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 7 Neighboring gene predicted gene, 53483 Neighboring gene STARR-seq mESC enhancer starr_03101 Neighboring gene STARR-positive B cell enhancer ABC_E5859 Neighboring gene STARR-seq mESC enhancer starr_03102 Neighboring gene predicted gene, 36307 Neighboring gene STARR-positive B cell enhancer ABC_E502 Neighboring gene STARR-seq mESC enhancer starr_03103 Neighboring gene STARR-positive B cell enhancer ABC_E5860 Neighboring gene STARR-positive B cell enhancer ABC_E7780 Neighboring gene STARR-positive B cell enhancer ABC_E409 Neighboring gene kynurenine 3-monooxygenase Neighboring gene opsin 3 Neighboring gene choroideremia-like

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables fumarate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables fumarate hydratase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables fumarate hydratase activity ISO
Inferred from Sequence Orthology
more info
 
enables histone binding ISO
Inferred from Sequence Orthology
more info
 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in fumarate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fumarate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fumarate metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within homeostasis of number of cells within a tissue IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in malate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in malate metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cold-induced thermogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of double-strand break repair via nonhomologous end joining ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of arginine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tricarboxylic acid cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tricarboxylic acid cycle ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of urea cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in site of double-strand break ISO
Inferred from Sequence Orthology
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
EF-3
fumarase
NP_034339.2

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_010209.2NP_034339.2  fumarate hydratase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_034339.2

    Status: VALIDATED

    Source sequence(s)
    AK147000, BQ174129, BU526396
    Consensus CDS
    CCDS15547.1
    UniProtKB/Swiss-Prot
    P97807, Q3UIA9, Q99JL0, Q9DCX0
    Related
    ENSMUSP00000027810.8, ENSMUST00000027810.14
    Conserved Domains (1) summary
    PRK00485
    Location:46507
    fumC; fumarate hydratase; Reviewed

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    175428944..175453201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)