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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2271 |
Name | FH |
Synonym | HLRCC|LRCC|MCL|MCUL1;fumarate hydratase;FH;fumarate hydratase |
Definition | fumarase|fumarate hydratase, mitochondrial |
Position | 1q42.1 |
Gene Type | protein-coding |
Source | Count: 3; Pubmed_search,Generif,UniProt |
Literature support | Count: 3 PubMed records as below. |
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Evidence Status |
Description |
reviewed | "Data suggest that fumarase and fumaric acid are critical elements of the DNA damage response, which underlies the tumor suppressor role of fumarase in human cells and which is most probably HIF independent." |
reviewed | That all missense FH mutations associating with MCUL/hereditary leiomyomatosis and renal cell cancer showed diminished FH enzymatic activity suggests that the tumor suppressor role of fumarate hydratase may relate to its enzymatic function. |
reviewed | Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis. |
| More detail of all 3 literatures about FH | |
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Pathways and Diseases |
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Pathway | Pyruvate metabolism and Citric Acid (TCA) cycle;Reactome;REACT:1046 |
Pathway | TCA cycle;PANTHER;P00051 |
Pathway | Citrate cycle (TCA cycle);KEGG PATHWAY;hsa00020 |
Pathway | respiration (anaerobic);BioCyc;ANARESP1-PWY |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | TCA cycle variation III (eukaryotic);BioCyc;PWY-5690 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | Renal cell carcinoma;KEGG PATHWAY;hsa05211 |
Disease | Cancers;KEGG DISEASE |
Disease | Ovarian disease;FunDO |
Disease | Cancers of the urinary system and male genital organs;KEGG DISEASE |
Disease | Fumarase deficiency;OMIM |
Disease | Multiple cutaneous and uterine leiomyomata;OMIM |
Disease | Cancer;FunDO |
Disease | Leiomyomatosis and renal cell cancer;OMIM |
Disease | Testicular tumor;FunDO |
Disease | Renal cell carcinoma;KEGG DISEASE;H00021 |
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External Links |
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Links to Entrez Gene | 2271 |
Links to all GeneRIF Items | 2271 |
Links to iHOP | 2271 |
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Sequence Information |
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Nucleotide Sequence |
>2271 : length: 1533 atgtaccgagcacttcggctcctcgcgcgctcgcgtcccctcgtgcgggctccagccgca gccttagcttcggctcccggcttgggtggcgcggccgtgccctcgttttggcctccgaac gcggctcgaatggcaagccaaaattccttccggatagaatatgatacctttggtgaacta aaggtgccaaatgataagtattatggcgcccagaccgtgagatctacgatgaactttaag attggaggtgtgacagaacgcatgccaaccccagttattaaagcttttggcatcttgaag cgagcggccgctgaagtaaaccaggattatggtcttgatccaaagattgctaatgcaata atgaaggcagcagatgaggtagctgaaggtaaattaaatgatcattttcctctcgtggta tggcagactggatcaggaactcagacaaatatgaatgtaaatgaagtcattagcaataga gcaattgaaatgttaggaggtgaacttggcagcaagatacctgtgcatcccaacgatcat gttaataaaagccagagctcaaatgatacttttcccacagcaatgcacattgctgctgca atagaagttcatgaagtactgttaccaggactacagaagttacatgatgctcttgatgca aaatccaaagagtttgcacagatcatcaagattggacgtactcatactcaggatgctgtt ccacttactcttgggcaggaatttagtggttatgttcaacaagtaaaatatgcaatgaca agaataaaagctgccatgccaagaatctatgagctcgcagctggaggcactgctgttggt acaggtttaaatactagaattggctttgcagaaaaggttgctgcaaaagtggctgcactt acaggcttgccttttgtcactgctccgaataaatttgaagctctggctgctcatgacgct ctggttgagctcagtggagccatgaacactactgcctgcagtctgatgaagatagcaaat gatattcgatttttgggttctggtcctcggtcaggtctgggagaattgatcttgcctgaa aatgaaccaggaagcagtatcatgccaggcaaggtgaaccctactcagtgtgaagcaatg accatggttgcagcccaagtcatggggaaccatgttgctgtcactgtcggaggcagcaat ggacattttgagttgaatgttttcaagccaatgatgattaaaaatgtgttacactcagcc aggctgctgggggatgcttcagtttcctttacagaaaactgcgtggtgggaatccaggcc aatacagaaaggatcaacaagctgatgaatgagtctctaatgttggtgacagctctcaat cctcatatagggtatgacaaggcagcaaagattgctaagacagcacacaaaaatggatca accttaaaggaaactgctatcgaacttggctatctcacagcagagcagtttgacgaatgg gtaaaacctaaggacatgctgggtccaaagtga |
Protein Sequence |
>2271 : length: 510 MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGEL KVPNDKYYGAQTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAI MKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIPVHPNDH VNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAV PLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAAL TGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPE NEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSA RLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGS TLKETAIELGYLTAEQFDEWVKPKDMLGPK |