FECH - ferrochelatase Gene

Also Known as EPP; FCE; EPP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2235

About FECH

Cytogenetic location: 18q21.31 Genomic coordinates (GRCh38): 18:57,544,377-57,586,702 (from NCBI)

This gene has 13 transcripts (splice variants), 197 orthologues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 19.5), kidney (RPKM 8.4) and 24 other tissues.

Summary

The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]

FECH Products (5)

mRNA	Protein	Name
NM_000140.5	NP_000131.2	ferrochelatase, mitochondrial isoform b precursor
NM_001012515.4	NP_001012533.1	ferrochelatase, mitochondrial isoform a precursor
NM_001371094.1	NP_001358023.1	ferrochelatase, mitochondrial isoform c
NM_001371095.1	NP_001358024.1	ferrochelatase, mitochondrial isoform d
NM_001374778.1	NP_001361707.1	ferrochelatase, mitochondrial isoform e

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Referencias	Source
enables ferrochelatase activity	IDA IDA: Inferred from direct assay	8973195	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17261801	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15123683	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	30765471	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in heme biosynthetic process	IDA IDA: Inferred from direct assay	27599036	GOA
involved in protoporphyrinogen IX metabolic process	IDA IDA: Inferred from direct assay	15123683	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

FECH Protein Structure

Ferrochelatase

0
100
200
300
400
423 a.a.

Protein Preferred Names	Protein Names
ferrochelatase, mitochondrial	heme synthase

FECH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FECH	P22830	PGRMC1	Homo sapiens	O00264	Anti Tag CoIP	33961781
Intra	FECH	P22830	PGRMC1	Homo sapiens	O00264	Pull Down	27599036
Intra	FECH	P22830	PGRMC1	Homo sapiens	O00264	Anti Tag CoIP	27599036
Intra	FECH	P22830	PGRMC1	Homo sapiens	O00264	Enzymatic Study	27599036
Intra	FECH	P22830	ABCB7	Homo sapiens	O75027	Anti Tag CoIP	30765471
Intra	FECH	P22830	FECH	Homo sapiens	P22830	Comig Non-Denat Gel	30765471
Intra	FECH	P22830	FECH	Homo sapiens	P22830	Crosslink	30765471
Intra	FECH	P22830	FECH	Homo sapiens	P22830	X-Ray Diffraction	17261801

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Erythropoietic Protoporphyria, Autosomal Recessive
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
Coproporphyria, Hereditary	Hereditary Coproporphyria Coproporphyria Coproporphyrinogen Oxidase Deficiency HCP Cpo Deficiency Cpox Deficiency Cpx Deficiency Hereditary Coproporphyria Porphyria Cpro Deficiency Coproporphyria Hereditary Porphyria Hepatica Ii Porphyria Hepatica Coproporphyria Porphyria, Hereditary Coproporphyria Harderoporphyria
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Porphyria, Acute Intermittent	Acute Intermittent Porphyria Porphobilinogen Deaminase Deficiency Pbgd Deficiency AIP Porphyria, Swedish Type Uroporphyrinogen Synthase Deficiency Ups Deficiency Porphyria, Acute Intermittent, Nonerythroid Variant Hydroxymethylbilane Synthase Deficiency Aip - Acute Intermittent Porphyria Porphyria Intermittent Acute Pyrroloporphyria Hmbs Deficiency Porphyria Acute Intermittent
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Erythroleukemia
X-Linked Protoporphyria
Porphyria, Congenital Erythropoietic	Congenital Erythropoietic Porphyria Gunther Disease CEP Uros Deficiency Günther Disease Uroporphyrinogen Iii Synthase Deficiency Congenital Porphyria Uroporphyrinogen Iii Synthase, Deficiency Of Porphyria, Erythropoietic, Congenital Porphyria, Erythropoietic Deficiency Of Uroporphyrinogen Iii Synthase
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Anemia, Sideroblastic, And Spinocerebellar Ataxia	X-Linked Sideroblastic Anemia With Ataxia ASAT X-Linked Sideroblastic Anemia And Ataxia X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia Anemia, Sideroblastic, With Ataxia Anemia Sideroblastic And Spinocerebellar Ataxia Pagon Bird Detter Syndrome Pagon-Bird-Detter Syndrome Xlsa-A X-Linked Sideroblastic Anaemia And Ataxia X-Linked Sideroblastic Anaemia With Ataxia Sideroblastic Anemia With Spinocerebellar Ataxia Xlsa/A Anemia, Sideroblastic, Spinocerebellar Ataxia Sideroblastic Anemia And Ataxia Anemia Sideroblastic, And Spinocerebellar Ataxia
Iron Deficiency Anemia	Iron-Deficiency Anemia Fe Deficiency Anaemia Ida - [Iron Deficiency Anemia] Fe - [Iron] Deficiency Anemia Nos
Spastic Paraplegia 38, Autosomal Dominant	SPG38 Hereditary Spastic Paraplegia 38 Autosomal Dominant Spastic Paraplegia Type 38 Autosomal Dominant Spastic Paraplegia 38
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Borst-Jadassohn Intraepidermal Carcinoma	Intraepidermal Epithelioma Of Jadassohn Bowen'S Disease, Clonal
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Fowler Syndrome Encephaloclastic Proliferative Vasculopathy Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy PVHH Epv Cerebral Proliferative Glomeruloid Vasculopathy Hydranencephaly, Fowler Type Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly Fowler'S Syndrome Fowler Christmas Chapple Syndrome Fowler Vasculopathy Polycystic Ovaries Urethral Sphincter Dysfunction Voiding Dysfunction And Polycystic Ovaries Fowler Vasculopaty Hydranencephaly Fowler Type Pgv Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
Acute Erythroid Leukemia	Acute Erythroleukemia Di Guglielmo'S Syndrome Aml M6 Acute Myeloid Leukemia Fab-M6 Acute Myeloid Leukemia M6 Erythroleukemia Aml-M6 Acute Erythroleukemia M6a Subtype Acute Erythroleukemia M6b Subtype Di Guglielmo Syndrome Acute Myeloid Leukemia, M6 Type Acute Erythroblastic Leukemia Acute Erythroleukemia - M6a Subtype Acute Erythroleukemia - M6b Subtype Acute Erythraemia And Erythroleukaemia Acute Erythroid Leukaemia Without Mention Of Remission Erythraemia Erythraemic Myelosis Erythroleukaemia Acute Erythraemic Myelosis Acute Erythraemia
Actinic Keratosis	Solar Keratosis Actinic Keratosis Senile Hyperkeratosis Sk - Solar Keratosis Keratosis, Actinic Seborrheic Keratosis Ak - [Actinic Keratosis] Sk - [Solar Keratosis]
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-114758	Pyridoxal isonicotinoyl hydrazone	Inhibitor	99.96%	Unkown
HY-RS04857	FECH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20276	Fech Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26784	Fech Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FECH	VGNC	VGNC:72633
Rattus norvegicus	FECH	RGD	RGD:1307556
Felis catus	FECH	VGNC	VGNC:62223
Mus musculus	FECH	MGD	MGI:95513
Canis familiaris	FECH	VGNC	VGNC:40815
Bos taurus	FECH	VGNC	VGNC:28943
Others	FECH	NCBI