Details for: FH

Gene ID: 2271

Symbol: FH

Ensembl ID: ENSG00000091483

Description: fumarate hydratase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 118.3579
    Cell Significance Index: -18.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 82.8723
    Cell Significance Index: -21.0200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 67.7756
    Cell Significance Index: -27.9200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.2544
    Cell Significance Index: -23.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 53.3452
    Cell Significance Index: -27.4400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 42.2788
    Cell Significance Index: -28.3700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.5930
    Cell Significance Index: -23.4800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.8280
    Cell Significance Index: -25.6800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.5880
    Cell Significance Index: -25.6900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.8524
    Cell Significance Index: -27.0400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.1686
    Cell Significance Index: -15.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.2989
    Cell Significance Index: -7.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.6110
    Cell Significance Index: 424.6600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.2326
    Cell Significance Index: 134.0300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.9119
    Cell Significance Index: 16.0600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0525
    Cell Significance Index: 14.3600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9732
    Cell Significance Index: 10.5800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9599
    Cell Significance Index: 60.5000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9383
    Cell Significance Index: 64.8900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.9331
    Cell Significance Index: 7.4500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8109
    Cell Significance Index: 732.1600
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.7758
    Cell Significance Index: 5.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7721
    Cell Significance Index: 40.1100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7199
    Cell Significance Index: 19.2900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7123
    Cell Significance Index: 50.3800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6596
    Cell Significance Index: 14.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6139
    Cell Significance Index: 12.8500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.5991
    Cell Significance Index: 20.8200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5386
    Cell Significance Index: 238.1300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5241
    Cell Significance Index: 104.0000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5101
    Cell Significance Index: 50.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4835
    Cell Significance Index: 12.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4716
    Cell Significance Index: 85.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4377
    Cell Significance Index: 239.0300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4314
    Cell Significance Index: 12.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4306
    Cell Significance Index: 86.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4221
    Cell Significance Index: 19.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3992
    Cell Significance Index: 20.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3901
    Cell Significance Index: 47.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3848
    Cell Significance Index: 10.4800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3639
    Cell Significance Index: 49.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3369
    Cell Significance Index: 15.8400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3080
    Cell Significance Index: 39.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2936
    Cell Significance Index: 9.4100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2877
    Cell Significance Index: 13.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2688
    Cell Significance Index: 17.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2645
    Cell Significance Index: 6.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2570
    Cell Significance Index: 32.9500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2436
    Cell Significance Index: 28.7300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2384
    Cell Significance Index: 2.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2025
    Cell Significance Index: 34.5800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1846
    Cell Significance Index: 2.2000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1711
    Cell Significance Index: 4.5000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1553
    Cell Significance Index: 4.1600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1306
    Cell Significance Index: 46.8600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1241
    Cell Significance Index: 9.2500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0668
    Cell Significance Index: 46.1800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0369
    Cell Significance Index: 27.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0353
    Cell Significance Index: 1.2400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0311
    Cell Significance Index: 0.4400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0298
    Cell Significance Index: 5.6700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0024
    Cell Significance Index: 0.1600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0010
    Cell Significance Index: 0.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0004
    Cell Significance Index: -0.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0015
    Cell Significance Index: -2.7200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0021
    Cell Significance Index: -3.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0060
    Cell Significance Index: -4.5700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0072
    Cell Significance Index: -0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0081
    Cell Significance Index: -12.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0109
    Cell Significance Index: -8.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0143
    Cell Significance Index: -8.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0166
    Cell Significance Index: -10.5700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0169
    Cell Significance Index: -22.9500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0198
    Cell Significance Index: -2.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0233
    Cell Significance Index: -2.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0260
    Cell Significance Index: -11.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0278
    Cell Significance Index: -15.6600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0293
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0564
    Cell Significance Index: -11.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0580
    Cell Significance Index: -6.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0657
    Cell Significance Index: -3.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0741
    Cell Significance Index: -21.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0770
    Cell Significance Index: -1.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0916
    Cell Significance Index: -10.6700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1139
    Cell Significance Index: -2.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1183
    Cell Significance Index: -6.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1293
    Cell Significance Index: -18.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1486
    Cell Significance Index: -11.7700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1926
    Cell Significance Index: -1.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1938
    Cell Significance Index: -11.9100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2002
    Cell Significance Index: -2.9600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2137
    Cell Significance Index: -3.6000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2517
    Cell Significance Index: -26.2100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2893
    Cell Significance Index: -4.3600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3075
    Cell Significance Index: -5.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3213
    Cell Significance Index: -14.2100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3668
    Cell Significance Index: -22.4900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3690
    Cell Significance Index: -10.8700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3791
    Cell Significance Index: -5.6800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3900
    Cell Significance Index: -5.0000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic Activity:** FH is a mitochondrial enzyme that catalyzes the hydration of fumarate to malate, generating NADH and CO2. 2. **Subcellular Localization:** FH is primarily localized to the mitochondrial matrix, where it plays a crucial role in regulating the TCA cycle. 3. **Cellular Expression:** FH is expressed in various cell types, including oogonial cells, placental villous trophoblasts, proerythroblasts, oocytes, erythroid progenitor cells, epithelial cells of the nephron, large pre-B-II cells, stem cells, fraction A pre-pro B cells, and primitive red blood cells. 4. **Protein Structure:** The FH protein consists of 552 amino acids and is characterized by a unique structural motif that allows for its enzymatic activity. **Pathways and Functions:** 1. **Citric Acid Cycle (TCA Cycle):** FH is a key enzyme in the TCA cycle, which is a critical metabolic pathway that generates energy for the cell through the oxidation of acetyl-CoA. 2. **Electron Transport Chain:** FH regulates the flow of electrons through the electron transport chain, which is essential for generating ATP and maintaining cellular energy homeostasis. 3. **DNA Repair:** FH has been implicated in the regulation of DNA repair mechanisms, particularly in the context of mitochondrial DNA repair. 4. **Metabolic Regulation:** FH plays a crucial role in regulating various metabolic pathways, including pyruvate metabolism, malate metabolic process, and protein metabolism. **Clinical Significance:** 1. **Neurodegenerative Diseases:** Mutations in the FH gene have been associated with neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and spinocerebellar ataxia type 2 (SCA2). 2. **Metabolic Disorders:** FH mutations have been linked to metabolic disorders, including mitochondrial myopathies, lactic acidosis, and renal tubular acidosis. 3. **Cancer:** FH has been implicated in cancer development and progression, particularly in the context of the TCA cycle. 4. **Diagnostic and Therapeutic Implications:** The dysregulation of FH has significant implications for diagnosis and treatment of various diseases. For example, FH inhibitors have been explored as potential therapeutic agents for cancer treatment. In conclusion, the Fumarate Hydratase gene plays a critical role in maintaining cellular homeostasis and regulating various metabolic pathways. The dysregulation of FH has significant implications for disease pathogenesis, and further research is necessary to fully understand the clinical significance of this gene.

Genular Protein ID: 299132543

Symbol: FUMH_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3828494

Title: Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver.

PubMed ID: 3828494

DOI: 10.1007/bf01116247

PubMed ID: 27037871

Title: Human fumarate hydratase is dual localized by an alternative transcription initiation mechanism.

PubMed ID: 27037871

DOI: 10.1111/tra.12397

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20231875

Title: Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response.

PubMed ID: 20231875

DOI: 10.1371/journal.pbio.1000328

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22509282

Title: Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).

PubMed ID: 22509282

DOI: 10.1371/journal.pone.0034237

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26237645

Title: Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation.

PubMed ID: 26237645

DOI: 10.1038/ncb3209

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30718813

Title: A chemoproteomic portrait of the oncometabolite fumarate.

PubMed ID: 30718813

DOI: 10.1038/s41589-018-0217-y

PubMed ID: 21445611

Title: Structural basis of fumarate hydratase deficiency.

PubMed ID: 21445611

DOI: 10.1007/s10545-011-9294-8

PubMed ID: 24419633

Title: Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.

PubMed ID: 24419633

DOI: 10.1107/s2053230x13033955

PubMed ID: 30761759

Title: Structural, biochemical and biophysical characterization of recombinant human fumarate hydratase.

PubMed ID: 30761759

DOI: 10.1111/febs.14782

PubMed ID: 8200987

Title: Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

PubMed ID: 8200987

DOI: 10.1172/jci117261

PubMed ID: 9635293

Title: Molecular analysis and prenatal diagnosis of human fumarase deficiency.

PubMed ID: 9635293

DOI: 10.1006/mgme.1998.2684

PubMed ID: 11865300

Title: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

PubMed ID: 11865300

DOI: 10.1038/ng849

Sequence Information:

  • Length: 510
  • Mass: 54637
  • Checksum: 86F91F95DC046F64
  • Sequence:
  • MYRALRLLAR SRPLVRAPAA ALASAPGLGG AAVPSFWPPN AARMASQNSF RIEYDTFGEL 
    KVPNDKYYGA QTVRSTMNFK IGGVTERMPT PVIKAFGILK RAAAEVNQDY GLDPKIANAI 
    MKAADEVAEG KLNDHFPLVV WQTGSGTQTN MNVNEVISNR AIEMLGGELG SKIPVHPNDH 
    VNKSQSSNDT FPTAMHIAAA IEVHEVLLPG LQKLHDALDA KSKEFAQIIK IGRTHTQDAV 
    PLTLGQEFSG YVQQVKYAMT RIKAAMPRIY ELAAGGTAVG TGLNTRIGFA EKVAAKVAAL 
    TGLPFVTAPN KFEALAAHDA LVELSGAMNT TACSLMKIAN DIRFLGSGPR SGLGELILPE 
    NEPGSSIMPG KVNPTQCEAM TMVAAQVMGN HVAVTVGGSN GHFELNVFKP MMIKNVLHSA 
    RLLGDASVSF TENCVVGIQA NTERINKLMN ESLMLVTALN PHIGYDKAAK IAKTAHKNGS 
    TLKETAIELG YLTAEQFDEW VKPKDMLGPK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.