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FLASH GENE
Symbol FH contributors: mct - updated : 08-10-2012
HGNC name fumarate hydratase
HGNC id 3700
Corresponding disease
FHD fumarate hydratase deficiency
HLRCC hereditary leiomyomatosis
MCUL1 multiple cutaneous and uterine leiomyomata
Location 1q43      Physical location : 241.660.856 - 241.683.085
Genatlas name fumarase
Synonym name
  • leiomyomatosis and renal cell cancer
  • multiple hereditary cutaneous leiomyomata
  • Synonym symbol(s) FUMH, HLRCC, LRCC, MCL, MCUL1
    EC.number 4.2.1.2
    DNA
    TYPE functioning gene
    STRUCTURE 22.23 kb     10 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC391179 1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CHRM3 1q41-q44 cholinergic receptor, muscarinic 3 LOC128136 1q43 similar to Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMG-CoA synthase) (3-hydroxy-3-methylglutaryl coenzyme A synthase) LOC284711 1q43 similar to 40S ribosomal protein S7 (S8) FMN2 1q43 formin 2 LOC266783 1q43 proteasome 26S non-ATPase subunit 2 pseudogene FLJ21195 1q43 protein related to DAN and cerberus LOC391180 1 similar to 40S ribosomal protein S11 RGS7 1q43 regulator of G-protein signalling 7 LOC388755 1 LOC388755 FH 1q42.1 fumarate hydratase KMO 1q42-q44 kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) OPN3 1q43 opsin 3 (encephalopsin, panopsin) CHML 1q32-q41 choroideremia-like (Rab escort protein 2) FLJ32978 1q43 hypothetical protein FLJ32978 LOC391181 1 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) EXO1 1q43 exonuclease 1 LOC391182 1 similar to 60S ribosomal protein L23a FLJ40773 1q43 hypothetical protein FLJ40773 LOC391183 1 similar to ribosomal protein L24-like; 60S ribosomal protein L30 isolog; my024 protein; homolog of yeast ribosomal like protein 24 LOC391184 1 similar to RCC1-like LOC343365 1q43 similar to capicua homolog LOC388756 1 similar to hypothetical protein LOC349114 LOC388757 1 LOC388757 LOC339077 1q43 hypothetical gene supported by AK092558; AL137655; BC006361 KAB 1q44 KARP-1-binding protein SDCCAG8 1q44 serologically defined colon cancer antigen 8 AKT3 1q43-q44 v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) LOC388758 1 LOC388758 LOC339529 1q44 hypothetical protein LOC339529 ZNF238 1q44-qter zinc finger protein 238 LOC343484 1q44 hypothetical LOC343484 LOC200159 1q44 hypothetical LOC200159 LOC126826 1q44 similar to TGFB-induced factor 2; TGF(beta)-induced transcription factor 2; transcription growth factor-beta-induced factor 2; homeobox protein TGIF2; 5-TG-3 interacting factor 2 ADSS 1cen-q12 adenylosuccinate synthase MGC33370 1q44 hypothetical protein MGC33370 HCP5 6p21.3 HLA complex P5 PNAS-4 1q44 CGI-146 protein LOC116228 1q44 hypothetical protein LOC116228 HNRPU 1q44 heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) MGC12458 1q44 hypothetical protein MGC12458
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1877 - 510 - 2006 16510303
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineparathyroid   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Skin/Tegumentskin   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Fh1
    Homologene
    FAMILY
    CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • cytosolic form of fumarase
  • upon DNA damage the protein is transported from the cytosol to the nucleus, where by virtue of its enzymatic activity it participates in the DNA damage response
  • basic FUNCTION
  • catalyzing the seventh step of citric acid cycle
  • participates in the Krebs cycle in mitochondria, as well as in regulation of cytosolic fumarate levels
  • tumor suppressor functions of FH in sporadic kidney cancer
  • participates in the tricarboxylic acid cycle in mitochondria which is essential for cellular respiration in eukaryotes
  • in the cytoplasm, participate in the cellular response to DNA double strand breaks
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FHD , HLRCC , MCUL1
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in ovarian mucinous cystadenoma with uterine and skin leiomyomata and renal cell cancer
    tumoral germinal mutation     loss of function
    in hereditary leiomyomatosis and renal cell cancer (HLRCC)
    tumoral germinal mutation      
    in adult leydig cell tumors of the testis
    tumoral     --low  
    FH mRNA and protein expression are reduced in clear cell renal cancer, the most common histologic variant of kidney cancer, and reduced FH leads to the accumulation of HIF2A
    Susceptibility
  • to uterine and skin leiomyomata
  • to renal cell cancer
  • Variant & Polymorphism other FH germline mutation associated to early onset uterine and skin leiomyomata and renal cell cancer
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS