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Aliases for FH Gene

Aliases for FH Gene

  • Fumarate Hydratase 2 3 5
  • EC 4.2.1.2 4 63
  • Fumarase 3 4
  • HLRCC 3
  • MCUL1 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 leiomyomatosis and renal cell cancer and fumarase deficiency. Among its related pathways are Metabolism and Pathways in cancer. GO annotations related to this gene include lyase activity and fumarate hydratase activity.

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

Promoters for FH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FH on UCSC Golden Path with GeneCards custom track

Genomic Location for FH Gene

Chromosome:
1
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

Genes around FH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 94
  • Modification sites at PhosphoSitePlus

Other Protein References for FH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for FH Gene

Graphical View of Domain Structure for InterPro Entry

P07954

UniProtKB/Swiss-Prot:

FUMH_HUMAN :
  • Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.
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:0004333 fumarate hydratase activity EXP,IEA 8200987
genes like me logo Genes that share ontologies with FH: view
genes like me logo Genes that share phenotypes with FH: view

Human Phenotype Ontology for FH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FH Gene

MGI Knock Outs for FH:

miRNA for FH Gene

miRTarBase miRNAs that target FH

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
extracellular 5
mitochondrion 5
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for FH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20833797
genes like me logo Genes that share ontologies with FH: view

Pathways & Interactions for FH Gene

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

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:0051262 protein tetramerization IBA --
genes like me logo Genes that share ontologies with FH: view

No data available for SIGNOR curated interactions for FH Gene

Drugs & Compounds for FH Gene

(20) Drugs for FH Gene - From: ClinicalTrials, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 719,239
Miconazole Approved, Investigational Pharma Antagonist, Pore Blocker 3026
Mipomersen Approved Pharma 16
SB-649868 Experimental Pharma Antagonist 0
Anticholesteremic Agents Pharma 1732

(21) Additional Compounds for FH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-Malic acid
  • (-)-(S)-Malate
  • (-)-(S)-Malic acid
  • (-)-Hydroxysuccinate
  • (-)-Hydroxysuccinic acid
  • (-)-L-Malic acid
97-67-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with FH: view

Transcripts for FH Gene

Unigene Clusters for FH Gene

Fumarate hydratase:
Representative Sequences:

Inhibitory RNA 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 differential expression in normal tissues according to GTEx for FH Gene

This gene is overexpressed in Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for FH Gene

This gene is overexpressed in Liver, secretome (13.2), Nasal epithelium (8.2), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FH: view

Protein tissue co-expression partners for FH Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FH Gene

Orthologs for FH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FH Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia FH 35
  • 99.35 (n)
  • 99.41 (a)
FH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fh 35
  • 85.73 (n)
  • 93.29 (a)
oppossum
(Monodelphis domestica)
Mammalia FH 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FH 36
  • 88 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491219 35
  • 77.32 (n)
  • 88.41 (a)
Str.10251 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24299 35
zebrafish
(Danio rerio)
Actinopterygii fh 35
  • 73.86 (n)
  • 87.82 (a)
zgc66253 35
fh 36
  • 82 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8748 35
fruit fly
(Drosophila melanogaster)
Insecta CG4094 37
  • 70 (a)
CG6140 37
  • 68 (a)
l(1)G0255 35
  • 65.6 (n)
  • 77.09 (a)
CG31874 36
  • 57 (a)
OneToMany
CG4095 36
  • 68 (a)
OneToMany
CG6140 36
  • 67 (a)
OneToMany
l(1)G0255 36
  • 74 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001884 35
  • 63.74 (n)
  • 75.25 (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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00902g 35
  • 62.81 (n)
  • 68.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUM1 35
  • 61.33 (n)
  • 67.16 (a)
FUM1 36
  • 65 (a)
OneToOne
FUM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons FUM2 35
  • 66.09 (n)
  • 70.39 (a)
soybean
(Glycine max)
eudicotyledons Gma.16566 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9657 35
barley
(Hordeum vulgare)
Liliopsida Hv.4136 35
rice
(Oryza sativa)
Liliopsida Os.6783 35
wheat
(Triticum aestivum)
Liliopsida Ta.20449 35
corn
(Zea mays)
Liliopsida Zm.3679 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8482 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)
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
VAR_002445 Fumarase deficiency (FMRD)
VAR_002445 Hereditary leiomyomatosis and renal cell cancer (HLRCC)
VAR_002446 Fumarase deficiency (FMRD)
VAR_002447 Fumarase deficiency (FMRD)
VAR_002448 Fumarase deficiency (FMRD)

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

Variation tolerance for FH Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 25.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FH Gene

HapMap Linkage Disequilibrium report
FH
Human Gene Mutation Database (HGMD)
FH

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

Disorders for FH Gene

MalaCards: The human disease database

(35) MalaCards diseases for FH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leiomyomatosis and renal cell cancer
  • hereditary leiomyomatosis and renal cell cancer
fumarase deficiency
  • fumarate hydratase deficiency
multiple cutaneous and uterine leiomyomas
  • hereditary leiomyomatosis and renal cell cancer
fumarate hydratase deficiency
  • fumarase deficiency
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search FH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FUMH_HUMAN
  • Fumarase deficiency (FMRD) [MIM:606812]: A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. {ECO:0000269 PubMed:9635293, ECO:0000269 Ref.16}. 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.

Genatlas disease for FH Gene

fumaricaciduria,mitochondrial encephalomyopathy

Relevant External Links for FH

Genetic Association Database (GAD)
FH
Human Genome Epidemiology (HuGE) Navigator
FH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FH
genes like me logo Genes that share disorders with FH: view

Publications for FH Gene

  1. 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 67
  2. UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. (PMID: 19963135) Yang Y. … Linehan W.M. (Cancer Genet. Cytogenet. 2010) 3 23
  3. Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. (PMID: 20231875) Yogev O. … Pines O. (PLoS Biol. 2010) 3 23
  4. Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. (PMID: 19151755) Raimundo N. … Suomalainen A. (Oncogene 2009) 3 23
  5. Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. (PMID: 19470762) Sudarshan S. … Neckers L. (Mol. Cell. Biol. 2009) 3 23

Products for FH Gene

Sources for FH Gene

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