1. Gene
  2. FH - fumarate hydratase Gene

FH - fumarate hydratase Gene

Homo sapiens

Also known as MCL; FMRD; HsFH; LRCC; HLRCC; MCUL1

Gene ID: 2271 | Gene type: protein coding

About FH

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:241,497,603-241,519,755 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FH Protein Structure

Lyase_1

Lyase_1: Lyase (58 - 389)

FumaraseC_C

FumaraseC_C: Fumarase C C-terminus (455 - 509)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 510 a.a.
Protein Preferred Names Protein Names

fumarate hydratase, mitochondrial

epididymis secretory sperm binding protein

FH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FH P07954 CCDC102B Homo sapiens Q68D86
Validated Y2H
32296183
Intra
FH P07954 CCDC57 Homo sapiens Q2TAC2-2
Validated Y2H
32296183
Intra
FH P07954 H2AZ1 Homo sapiens P0C0S5
Anti Bait CoIP
26237645
Intra
FH P07954 H2AZ1 Homo sapiens P0C0S5
Pull Down
26237645
Intra
FH P07954 H2AZ1 Homo sapiens P0C0S5
Anti Tag CoIP
26237645
Intra
FH P07954 DGCR6 Homo sapiens Q14129
Validated Y2H
32296183
Intra
FH P07954 CSTPP1 Homo sapiens Q9H6J7-2
Validated Y2H
32296183
Intra
FH P07954 LMNB2 Homo sapiens Q03252
Validated Y2H
32296183
Intra
FH P07954 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
32296183
Intra
FH P07954 KLHL6 Homo sapiens Q8WZ60
Validated Y2H
32296183
Intra
FH P07954 PIM1 Homo sapiens P11309
Y2H Array
25416956
Intra
FH P07954 SAT1 Homo sapiens P21673
Validated Y2H
32296183
Intra
FH P07954 TTC19 Homo sapiens Q6DKK2
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FH Proteins

Cat. No. Product Name Accession Purity
HY-P70267 Fumarate hydratase/FH Protein, Human P07954-1 (A45-K510) ≥95%
HY-P73062 Fumarate Hydratase/FH Protein, Human (His) P07954-1 (A45-K510) ≥95%

Related Diseases

Diseases Alias
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase

Hereditary Leiomyomatosis And Renal Cell Cancer

HLRCC

Lrcc

Mcl

Multiple Cutaneous And Uterine Leiomyomata

Leiomyomatosis And Renal Cell Cancer

Mcul

Mcul1

Familial Leiomyomatosis And Renal Cell Cancer

Familial Leiomyomatosis Cutis Et Uteri

Familial Leiomyomatosis With Renal Carcinoma

Familial Multiple Cutaneous Leiomyomas

Reed'S Syndrome

Multiple Cutaneous And Uterine Leiomyomata 1, With Or Without Renal Cell Carcinoma

Leiomyomatosis And Renal Cell Cancer, Hereditary

Leiomyoma, Multiple Cutaneous

Multiple Cutaneous Leiomyomata

Hereditary Leiomyomatosis And Renal Cell Carcinoma

Multiple Cutaneous Leiomyoma

Hereditary Leiomyomatosis

Hereditary Leiomyomatosis With Renal Carcinoma

Hereditary Multiple Cutaneous Leiomyomas

Multiple Cutaneous And Uterine Leiomyomas

Reed Syndrome

Leiomyoma Multiple Cutaneous

Leiomyomatosis And Renal Cell Cancer Hereditary

Multiple Cutaneous And Uterine Leiomyomata 1 With Or Without Renal Cell Carcinoma

Fumarate Hydratase Deficiency

Fumarase Deficiency

Fumaric Aciduria

Fh Tumor Predisposition Syndrome

Hereditary Leiomyomatosis Renal Cell Cancer

Hlrcc

Multiple Cutaneous Uterine Leiomyomatosis

Mcl/Mcul

Reed'S Syndrome

Multiple Cutaneous And Uterine Leiomyomatosis

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma

Hereditary Paraganglioma-Pheochromocytoma

Familial Pheochromocytoma-Paraganglioma

Paragangliomas 2

Paragangliomas 3

Paragangliomas 4

Sdhx-Related Paraganglioma-Pheochromocytoma

Familial Paraganglioma Syndrome

Familial Paraganglioma-Pheochromocytoma Syndromes

Fpgl

Fpgl/Pheo

Paragangliomas 1

Paraganglioma

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Leiomyomatosis
Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Dermis Tumor

Dermis Tumour

Neoplasm Of Dermis

Tumor Of Dermis

Tumour Of Dermis

Leiomyoma, Uterine

Uterine Leiomyoma

Uterine Fibroid

Uterine Fibroids

Plexiform Leiomyoma

UL

Leiomyoma Of Corpus Uteri

Uterus Fibroma

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Uterus Leiomyosarcoma

Leiomyosarcoma Of Uterus

Leiomyosarcoma Of Corpus Uteri

Leiomyosarcoma Of The Corpus Uteri

Uterine Leiomyosarcoma

Myoma

Muscle Benign Neoplasm

Myomatous Neoplasm

Neoplasms, Muscle Tissue

Benign Neoplasm Of The Muscle

Muscle Neoplasm

Muscle Tissue Neoplasm

Myomatous Tumor

Neoplasm Of Muscle

Muscle Neoplasms

Myomas

Dartoic Leiomyoma

Dartoic Myoma

Breast Leiomyoma
Leiomyosarcoma

Leiomyosarcomas

Familial Renal Papillary Carcinoma

Hereditary Papillary Renal Carcinoma

Papillary Renal Cancer Hereditary

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Hereditary Renal Cell Carcinoma
Kidney Cancer

Renal Cancer

Renal Carcinoma

Kidney Neoplasm

Malignant Neoplasm Of Kidney Except Pelvis

Malignant Tumour Of Kidney

Kidney Neoplasms

Cancer, Kidney

Cancer, Renal

Malignant Neoplasm Of Kidney

Renal Cell Carcinoma

Uterine Benign Neoplasm
Bizarre Leiomyoma

Atypical Leiomyoma

Pleomorphic Leiomyoma

Symplastic Leiomyoma

Reproductive Organ Benign Neoplasm
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas

Breast Leiomyosarcoma

Leiomyosarcoma Of The Breast

Oncocytoma

Oxyphilic Adenoma

Follicular Adenoma, Oxyphilic Cell

Adenoma, Oxyphilic

Hurthle Cell Tumor

Oncocytic Neoplasm

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Colon Leiomyoma

Colonic Leiomyoma

Collecting Duct Carcinoma

Kidney Medullary Carcinoma

Renal Medullary Carcinoma

Bdc

Bellini Carcinoma

Bellini Duct Carcinoma

Cdc

Collecting Duct Carcinoma Of The Kidney

Renal Cell Adenocarcinoma

Carcinoma Of Renal Collecting Duct

Renal Carcinoma, Collecting Duct Type

Renal Cell Carcinoma

Bellini'S Duct Carcinoma

Renal Collecting Duct Carcinoma

Adenocarcinoma Of Kidney

Hypotonia
Renal Oncocytoma

Oncocytoma, Renal

Oncocytoma Of Kidney

Renal Epithelial Oncocytic Tumor

Oncocytoma Kidney

Oncocytoma Renal

Kidney Oncocytoma

Metabolic Acidosis
Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy

Paraganglioma And Gastric Stromal Sarcoma

Carney-Stratakis Syndrome

Paraganglioma And Gastrointestinal Stromal Tumor

Carney Dyad

Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma

Paraganglioma And Gist

Carney-Stratakis Dyad

Gist-Paraganglioma Dyad

PGGSS

Paraganglioma, Gastric Stromal Sarcoma

Gastrointestinal Stromal Tumors

Cardiomyopathy, Dilated, 1gg

Dilated Cardiomyopathy 1gg

CMD1GG

Cardiomyopathy, Dilated 1gg

Cardiomyopathy, Dilated, Type 1gg

Mucinous Ovarian Cystadenoma

Mucinous Cystadenoma Of Ovary

Ovarian Mucinous Cystadenoma

Acth-Independent Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenocortical Hyperplasia

Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

Corticotropin-Independent Macronodular Adrenal Hyperplasia

Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

AIMAH1

Aimah

Massive Macronodular Adrenocortical Disease

Mmad

Primary Macronodular Adrenal Hyperplasia

Cushing Syndrome, Adrenal, Due To Aimah

Primary Bilateral Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenal Hyperplasia 1

Acth-Independent Cushing Syndrome

Adrenal Cushing Syndrome Due To Aimah

Acth-Independent Macronodular Adrenal Hyperplasia 2

Cutaneous Leiomyosarcoma

Leiomyosarcoma Of The Skin

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Polyhydramnios
Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Endocrine Organ Benign Neoplasm
Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Primary Pigmented Nodular Adrenocortical Disease

Ppnad

Primary Pigmented Nodular Adrenal Dysplasia

Pigmented Nodular Adrenocortical Disease, Primary, 2

Pigmented Nodular Adrenocortical Disease, Primary, 1

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease

Vhl

Vhl Syndrome

VHLS

Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease

VHLD

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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
Macaca fascicularis FH NCBI NCBI:102118371
Others FH NCBI