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Aliases for FH Gene

Aliases for FH Gene

  • Fumarate Hydratase 2 3
  • EC 4.2.1.2 4 63
  • Fumarase 3 4
  • HLRCC 3 6
  • MCUL1 3 6
  • Fumarate Hydratase, Mitochondrial 3
  • FMRD 3
  • LRCC 3
  • MCL 3

External Ids for FH Gene

Previous GeneCards Identifiers for FH Gene

  • GC01M239746
  • GC01M237114
  • GC01M237957
  • GC01M238702
  • GC01M237986
  • GC01M241660
  • GC01M212119

Summaries for FH Gene

Entrez Gene Summary for FH Gene

  • 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]

GeneCards Summary for FH Gene

FH (Fumarate Hydratase) is a Protein Coding gene. Diseases associated with FH include fumarase deficiency and leiomyomatosis and renal cell cancer. Among its related pathways are Pathways in cancer and Metabolism.

UniProtKB/Swiss-Prot for FH Gene

  • Also acts as a tumor suppressor

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FH Gene

Genomics for FH Gene

Regulatory Elements for FH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FH Gene

Start:
241,497,557 bp from pter
End:
241,519,785 bp from pter
Size:
22,229 bases
Orientation:
Minus strand

Genomic View for FH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FH Gene

Proteins for FH Gene

  • Protein details for FH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07954-FUMH_HUMAN
    Recommended name:
    Fumarate hydratase, mitochondrial
    Protein Accession:
    P07954
    Secondary Accessions:
    • B1ANK7

    Protein attributes for FH Gene

    Size:
    510 amino acids
    Molecular mass:
    54637 Da
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • There are 2 substrate-binding sites: the catalytic A site, and the non-catalytic B site that may play a role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site may bind allosteric effectors (By similarity).

    Three dimensional structures from OCA and Proteopedia for FH Gene

    Alternative splice isoforms for FH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FH Gene

Proteomics data for FH Gene at MOPED

Post-translational modifications for FH Gene

  • Ubiquitination at Lys94
  • Modification sites at PhosphoSitePlus

Other Protein References for FH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FH (FH)

Domains for FH Gene

Graphical View of Domain Structure for InterPro Entry

P07954

UniProtKB/Swiss-Prot:

FUMH_HUMAN :
  • P07954
Family:
  • Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.
genes like me logo Genes that share domains with FH: view

No data available for Gene Families for FH Gene

Function for FH Gene

Molecular function for FH Gene

GENATLAS Biochemistry: fumarate hydratase,mitochondrial,catalyzing the seventh step of citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity: (S)-malate = fumarate + H(2)O
UniProtKB/Swiss-Prot Function: Also acts as a tumor suppressor

Enzyme Numbers (IUBMB) for FH Gene

Gene Ontology (GO) - Molecular Function for FH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004333 fumarate hydratase activity EXP --
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity --
genes like me logo Genes that share ontologies with FH: view
genes like me logo Genes that share phenotypes with FH: view

Animal Models for FH Gene

MGI Knock Outs for FH:

miRNA for FH Gene

miRTarBase miRNAs that target FH

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for FH Gene

Localization for FH Gene

Subcellular locations from UniProtKB/Swiss-Prot for FH Gene

Isoform Mitochondrial: Mitochondrion.
Isoform Cytoplasmic: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FH Gene COMPARTMENTS Subcellular localization image for FH gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for FH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 8200987
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0045239 tricarboxylic acid cycle enzyme complex IEA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with FH: view

Pathways for FH Gene

genes like me logo Genes that share pathways with FH: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P07954-FUMH_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1

Gene Ontology (GO) - Biological Process for FH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006106 fumarate metabolic process IEA --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0048873 homeostasis of number of cells within a tissue IEA --
genes like me logo Genes that share ontologies with FH: view

Compounds for FH Gene

(4) HMDB Compounds for FH Gene

Compound Synonyms Cas Number PubMed IDs
Fumaric acid
  • (2E)-But-2-enedioate
110-17-8
L-Malic acid
  • (-)-(S)-Malate
97-67-6
Malic acid
  • 2-Hydroxybutanedioic acid
6915-15-7
Water
  • Dihydrogen oxide
7732-18-5

(30) Novoseek inferred chemical compound relationships for FH Gene

Compound -log(P) Hits PubMed IDs
fumarate 96.5 154
malate 80.7 29
succinate 79 36
isocitrate 76.8 10
alpha-ketoglutarate 67.4 6
genes like me logo Genes that share compounds with FH: view

Transcripts for FH Gene

mRNA/cDNA for FH Gene

Unigene Clusters for FH Gene

Fumarate hydratase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FH Gene

No ASD Table

Relevant External Links for FH Gene

GeneLoc Exon Structure for
FH
ECgene alternative splicing isoforms for
FH

Expression for FH Gene

mRNA expression in normal human tissues for FH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FH Gene

This gene is overexpressed in Heart - Left Ventricle (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FH Gene

SOURCE GeneReport for Unigene cluster for FH Gene Hs.592490

mRNA Expression by UniProt/SwissProt for FH Gene

P07954-FUMH_HUMAN
Tissue specificity: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
genes like me logo Genes that share expressions with FH: view

In Situ Assay Products

Orthologs for FH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FH 35
  • 99.35 (n)
  • 99.41 (a)
FH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FH 35
  • 91.75 (n)
  • 95.33 (a)
FH 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FH 35
  • 91.6 (n)
  • 95.67 (a)
FH 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fh1 35
  • 87.38 (n)
  • 93.29 (a)
Fh1 16
Fh1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FH 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FH 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fh 35
  • 85.73 (n)
  • 93.29 (a)
chicken
(Gallus gallus)
Aves FH 35
  • 78.37 (n)
  • 85.6 (a)
FH 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FH 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24299 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491219 35
  • 77.32 (n)
  • 88.41 (a)
Str.10251 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8748 35
zebrafish
(Danio rerio)
Actinopterygii fh 35
  • 73.86 (n)
  • 87.82 (a)
fh 36
  • 82 (a)
OneToOne
zgc66253 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001884 35
  • 63.74 (n)
  • 75.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31874 36
  • 57 (a)
OneToMany
CG4095 36
  • 68 (a)
OneToMany
CG6140 36
  • 67 (a)
OneToMany
l(1)G0255 35
  • 65.6 (n)
  • 77.09 (a)
l(1)G0255 36
  • 74 (a)
OneToMany
CG6140 37
  • 68 (a)
CG4094 37
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea fum-1 35
  • 67.25 (n)
  • 76.36 (a)
fum-1 36
  • 72 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR013C 35
  • 58.7 (n)
  • 67.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUM1 35
  • 61.33 (n)
  • 67.16 (a)
FUM1 36
  • 65 (a)
OneToOne
FUM1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00902g 35
  • 62.81 (n)
  • 68.09 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9657 35
soybean
(Glycine max)
eudicotyledons Gma.16566 35
thale cress
(Arabidopsis thaliana)
eudicotyledons FUM2 35
  • 66.09 (n)
  • 70.39 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4136 35
corn
(Zea mays)
Liliopsida Zm.3679 35
rice
(Oryza sativa)
Liliopsida Os.6783 35
wheat
(Triticum aestivum)
Liliopsida Ta.20449 35
bread mold
(Neurospora crassa)
Ascomycetes NCU10008 35
  • 59.38 (n)
  • 68.49 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fum1 35
  • 60.59 (n)
  • 69.2 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8482 35
Species with no ortholog for FH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for FH Gene

ENSEMBL:
Gene Tree for FH (if available)
TreeFam:
Gene Tree for FH (if available)

Paralogs for FH Gene

Pseudogenes.org Pseudogenes for FH Gene

genes like me logo Genes that share paralogs with FH: view

No data available for Paralogs for FH Gene

Variants for FH Gene

Sequence variations from dbSNP and Humsavar for FH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1049719 -- 241,504,163(-) ATGAA(C/T)ACTAC reference, synonymous-codon
rs1335898 -- 241,516,007(+) TAAGA(C/G)TAATA intron-variant
rs1572380 -- 241,509,918(+) TAAAG(G/T)ACTTA intron-variant
rs2070080 Benign 241,500,525(-) AACTG(C/T)GTGGT reference, synonymous-codon
rs2185626 -- 241,502,210(-) TAAAA(C/T)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FH Gene

Variant ID Type Subtype PubMed ID
nsv873368 CNV Gain 21882294
nsv873371 CNV Gain 21882294

Relevant External Links for FH Gene

HapMap Linkage Disequilibrium report
FH
Human Gene Mutation Database (HGMD)
FH
Locus Specific Mutation Databases (LSDB)
FH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FH Gene

Disorders for FH Gene

(2) OMIM Diseases for FH Gene (136850)

UniProtKB/Swiss-Prot

FUMH_HUMAN
  • Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. {ECO:0000269 PubMed:9635293, ECO:0000269 Ref.15}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. {ECO:0000269 PubMed:11865300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FH Gene

(30) Novoseek inferred disease relationships for FH Gene

Disease -log(P) Hits PubMed IDs
hlrcc 98.9 61
fumarase deficiency 98.1 25
leiomyomatosis 96.3 41
uterine leiomyoma 84 30
uterine leiomyosarcoma 82.6 4

Genatlas disease for FH Gene

fumaricaciduria,mitochondrial encephalomyopathy

Relevant External Links for FH

GeneTests
FH
GeneReviews
FH
Genetic Association Database (GAD)
FH
Human Genome Epidemiology (HuGE) Navigator
FH
genes like me logo Genes that share disorders with FH: view

Publications for FH Gene

  1. Molecular analysis and prenatal diagnosis of human fumarase deficiency. (PMID: 9635293) Coughlin E.M. … Shih V.E. (Mol. Genet. Metab. 1998) 3 4 23
  2. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (PMID: 12772087) Toro J.R. … Zbar B. (Am. J. Hum. Genet. 2003) 3 23 48
  3. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. (PMID: 11865300) Tomlinson I.P.M. … Aaltonen L.A. (Nat. Genet. 2002) 3 4 23
  4. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. (PMID: 14632190) Martinez-Mir A. … Zlotogorski A. (J. Invest. Dermatol. 2003) 3 23 48
  5. Germline SDHB mutations and familial renal cell carcinoma. (PMID: 18728283) Ricketts C. … Maher E.R. (J. Natl. Cancer Inst. 2008) 3 23 48

Products for FH Gene

  • Addgene plasmids for FH

Sources for FH Gene

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