| Gene Information | |
|---|---|
| Gene Name | FH |
| Organism | Homo sapiens (Human) |
| Gene Length | 510 |
| Protein Names | Fumarate hydratase, mitochondrial (Fumarase) (HsFH) (EC 4.2.1.2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000091483 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P07954 |
| Gene Card | FH |
| Uniprot ID | P07954 |
| Pfam | PF10415; PF00206 |
| In ASD | no |
| Allosteric Prediction | yes (0.543012701) |
| Ortholog in Animals | Alpaca_ FH ( ortholog_one2one ) Dog_ FH ( ortholog_one2one ) GuineaPig_ FH ( ortholog_one2one ) Macaque_ FH ( ortholog_one2one ) Mouse_ Fh1 ( ortholog_one2one ) Pig_ FH ( ortholog_one2one ) Rat_ Fh ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ADSL, ASL |
| Tissue | NA |
| Tissue Specificity | Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. {ECO:0000269|PubMed:22509282}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.026335(Rat);0.180889(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3E04 (X-ray 1.95A ) 5D6B (X-ray 2.10A ) 5UPP (X-ray 1.80A ) 6EBT (X-ray 2.30A ) 6V8F (X-ray 2.30A ) 6VBE (X-ray 1.90A ) 7LUB (X-ray 2.15A ) |
| DBSNP | rs121913121 rs886039363 rs863224015 rs779707997 rs752232718 rs121913123 rs935002190 rs121913118 rs1553341046 rs121913119 |
| Subcellular location [CC] | [Isoform Mitochondrial]: Mitochondrion {ECO:0000269|PubMed:27037871}.; [Isoform Cytoplasmic]: Cytoplasm, cytosol {ECO:0000269|PubMed:20231875, ECO:0000269|PubMed:22509282, ECO:0000269|PubMed:26237645, ECO:0000269|PubMed:27037871}. Nucleus {ECO:0000269|PubMed:20231875, ECO:0000269|PubMed:26237645}. Chromosome {ECO:0000269|PubMed:26237645}. Note=Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC. {ECO:0000269|PubMed:26237645}. |
| Mouse PG classification | NA |
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