FH - fumarate hydratase Gene
Also Known as MCL; FMRD; HsFH; LRCC; HLRCC; MCUL1
Species: Homo sapiens
About FH
This gene has 8 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 75 phenotypes. Ubiquitous expression in heart (RPKM 49.3), liver (RPKM 41.8) and 25 other tissues.
Summary
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
FH Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000143.4 | NP_000134.2 | fumarate hydratase, mitochondrial |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables fumarate hydratase activity |
IDA
IDA: Inferred from direct assay
|
26237645 | GOA |
| enables fumarate hydratase activity |
IMP
IMP: Inferred from mutant phenotype
|
29456767 | GOA |
| enables histone binding |
IPI
IPI: Inferred from physical interaction
|
26237645 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA damage response |
IDA
IDA: Inferred from direct assay
|
20231875 | GOA |
| involved in fumarate metabolic process |
IDA
IDA: Inferred from direct assay
|
26237645 | GOA |
| involved in malate metabolic process |
IDA
IDA: Inferred from direct assay
|
30761759 | GOA |
| involved in positive regulation of double-strand break repair via nonhomologous end joining |
IDA
IDA: Inferred from direct assay
|
26237645 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
27037871 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
20231875 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
27037871 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
20231875 | GOA |
| located in site of double-strand break |
IDA
IDA: Inferred from direct assay
|
26237645 | GOA |
FH Protein Structure
Lyase_1: Lyase (58 - 389)
FumaraseC_C: Fumarase C C-terminus (455 - 509)
- 0
- 100
- 200
- 300
- 400
- 510 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
fumarate hydratase, mitochondrial |
|
FH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
FH | P07954 | CCDC102B | Homo sapiens | Q68D86 | 32296183 | |
|
Intra
|
FH | P07954 | CCDC57 | Homo sapiens | Q2TAC2-2 | 32296183 | |
|
Intra
|
FH | P07954 | H2AZ1 | Homo sapiens | P0C0S5 | 26237645 | |
|
Intra
|
FH | P07954 | H2AZ1 | Homo sapiens | P0C0S5 | 26237645 | |
|
Intra
|
FH | P07954 | H2AZ1 | Homo sapiens | P0C0S5 | 26237645 | |
|
Intra
|
FH | P07954 | DGCR6 | Homo sapiens | Q14129 | 32296183 | |
|
Intra
|
FH | P07954 | CSTPP1 | Homo sapiens | Q9H6J7-2 | 32296183 | |
|
Intra
|
FH | P07954 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
FH | P07954 | EXOSC5 | Homo sapiens | Q9NQT4 | 32296183 | |
|
Intra
|
FH | P07954 | KLHL6 | Homo sapiens | Q8WZ60 | 32296183 | |
|
Intra
|
FH | P07954 | PIM1 | Homo sapiens | P11309 | 25416956 | |
|
Intra
|
FH | P07954 | SAT1 | Homo sapiens | P21673 | 32296183 | |
|
Intra
|
FH | P07954 | TTC19 | Homo sapiens | Q6DKK2 | 32296183 |
Recombinant FH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70267 | Fumarate hydratase/FH Protein, Human | P07954-1 (A45-K510) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73062 | Fumarate Hydratase/FH Protein, Human (His) | P07954-1 (A45-K510) | ≥ 95%, as determined by reducing SDS-PAGE. |
FH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80672 | FH Antibody (YA763) | WB, ICC/IF | Human, Mouse, Rat |
| HY-P80672A | FH Antibody (YA763)(PBS only) | WB, ICC/IF | Human, Mouse, Rat |
| HY-P85661 | FH Antibody (YA5353) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Fumarase Deficiency |
|
|
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
|
| Fumarate Hydratase Deficiency |
|
|
| Fh Tumor Predisposition Syndrome |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Leiomyoma Cutis |
|
|
| Leiomyomatosis |
|
|
| Leiomyoma |
|
|
| Dermis Tumor |
|
|
| Leiomyoma, Uterine |
|
|
| Encephalopathy |
|
|
| Paraganglioma |
|
|
| Uterus Leiomyosarcoma |
|
|
| Myoma |
|
|
| Dartoic Leiomyoma |
|
|
| Breast Leiomyoma |
|
|
| Leiomyosarcoma |
|
|
| Familial Renal Papillary Carcinoma |
|
|
| Pheochromocytoma |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Kidney Cancer |
|
|
| Uterine Benign Neoplasm |
|
|
| Bizarre Leiomyoma |
|
|
| Reproductive Organ Benign Neoplasm |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Hemolytic Anemia |
|
|
| Birt-Hogg-Dube Syndrome |
|
|
| Breast Leiomyosarcoma |
|
|
| Oncocytoma |
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Cystic Kidney Disease |
|
|
| Hepatocellular Carcinoma |
|
|
| Colon Leiomyoma |
|
|
| Collecting Duct Carcinoma |
|
|
| Hypotonia |
|
|
| Renal Oncocytoma |
|
|
| Metabolic Acidosis |
|
|
| Persistent Generalized Lymphadenopathy |
|
|
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
| Cardiomyopathy, Dilated, 1gg |
|
|
| Mucinous Ovarian Cystadenoma |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
| Cutaneous Leiomyosarcoma |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Polyhydramnios |
|
|
| Kidney Benign Neoplasm |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
|
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
|
| Primary Pigmented Nodular Adrenocortical Disease |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| West Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | FH | MGD | MGI:95530 |
| Macaca mulatta | FH | VGNC | VGNC:72659 |
| Bos taurus | FH | VGNC | VGNC:28995 |
| Rattus norvegicus | FH | RGD | RGD:2614 |
| Canis familiaris | FH | VGNC | VGNC:40867 |
| Felis catus | FH | VGNC | VGNC:62263 |
| Others | FH | NCBI |