Details for: FH

Gene ID: 2271

Symbol: FH

Ensembl ID: ENSG00000091483

Description: fumarate hydratase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.09
    Marker Score: 3009
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.63
    Marker Score: 6396
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.44
    Marker Score: 975.5
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.42
    Marker Score: 352
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.37
    Marker Score: 1434
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.34
    Marker Score: 2805
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.31
    Marker Score: 3569
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.29
    Marker Score: 3067
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.26
    Marker Score: 1272
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.25
    Marker Score: 936
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.25
    Marker Score: 1318
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.22
    Marker Score: 402
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.22
    Marker Score: 815
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.22
    Marker Score: 608
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.22
    Marker Score: 2016
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.16
    Marker Score: 334
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.13
    Marker Score: 1919
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.13
    Marker Score: 1496.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.12
    Marker Score: 2558
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.11
    Marker Score: 5349
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.1
    Marker Score: 4516
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.09
    Marker Score: 1600
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.09
    Marker Score: 2956.5
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.09
    Marker Score: 3409
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.08
    Marker Score: 1147
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.08
    Marker Score: 4641
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.07
    Marker Score: 1154
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.05
    Marker Score: 9091
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.05
    Marker Score: 508
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.04
    Marker Score: 1300
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.03
    Marker Score: 970
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.03
    Marker Score: 1151
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.02
    Marker Score: 240
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.01
    Marker Score: 301
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.01
    Marker Score: 2705.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1
    Marker Score: 1072
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1
    Marker Score: 1036
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71675
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47899
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30386
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2392
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.93
    Marker Score: 1125
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.93
    Marker Score: 2189.5
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.91
    Marker Score: 264
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5202
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.91
    Marker Score: 661
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.9
    Marker Score: 1704
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2688
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.89
    Marker Score: 892
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.89
    Marker Score: 468
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.89
    Marker Score: 3280
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.88
    Marker Score: 6542
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.87
    Marker Score: 294
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.87
    Marker Score: 1520
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.87
    Marker Score: 13554
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.86
    Marker Score: 1330
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.86
    Marker Score: 905.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.85
    Marker Score: 710
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.84
    Marker Score: 525
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.83
    Marker Score: 10999.5
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.83
    Marker Score: 388
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.83
    Marker Score: 5377
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.82
    Marker Score: 454
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.82
    Marker Score: 1461
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.82
    Marker Score: 8264.5
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.81
    Marker Score: 6360.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.81
    Marker Score: 2053
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 319
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.79
    Marker Score: 224
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.79
    Marker Score: 1212.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.79
    Marker Score: 8847
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.78
    Marker Score: 699
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.78
    Marker Score: 533
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.78
    Marker Score: 9039
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 713
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.78
    Marker Score: 233
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.77
    Marker Score: 291
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.77
    Marker Score: 820
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.77
    Marker Score: 424
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 588
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.77
    Marker Score: 2972
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.77
    Marker Score: 26511
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.76
    Marker Score: 2181
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.75
    Marker Score: 313
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.75
    Marker Score: 368
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.75
    Marker Score: 703.5
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.74
    Marker Score: 455
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.74
    Marker Score: 440
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.74
    Marker Score: 4482
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.73
    Marker Score: 942
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.73
    Marker Score: 185
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.72
    Marker Score: 253
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.72
    Marker Score: 341
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.72
    Marker Score: 481

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Other Information

**Key characteristics:** - Gene name: FH - Ensembl ID: ENSG00000091483 - Protein: FUMH_HUMAN - Pathway/Ontology: Chromosome, Citric acid cycle (tca cycle), DNA repair, Fumarate hydratase activity, Fumarate metabolic process, Homeostasis of number of cells within a tissue, Malate metabolic process, Metabolism, Metabolism of proteins, Mitochondrial protein degradation, Nucleus, Positive regulation of cold-induced thermogenesis, Protein binding, Pyruvate metabolism and citric acid (tca) cycle, The citric acid (tca) cycle and respiratory electron transport, Tricarboxylic acid cycle **Pathways and functions:** - FH is significantly expressed in oogonial cell, placental villous trophoblast, proerythroblast, oocyte, erythroid progenitor cell, epithelial cell of nephron, large pre-B-II cell, stem cell, fraction A pre-pro B cell, primitive red blood cell. - The enzyme is involved in the citric acid (tca) cycle, a central metabolic pathway that generates energy for cells. - The tca cycle is responsible for the citric acid cycle and respiratory electron transport, which are essential for energy production in cells. **Clinical significance:** - Mutations in the FH gene have been linked to several human diseases, including pulmonary hypertension and lactic acidosis. - FH is a potential therapeutic target for these diseases, as it is involved in the regulation of the citric acid (tca) cycle.

Genular Protein ID: 299132543

Symbol: FUMH_HUMAN

Name: N/A

UniProtKB Accession Codes:

P07954 B1ANK7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CPTC 1 CTD 1 ChEBI 9 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 3 EMBL 8 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 7 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 5 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.