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FECH Gene(Protein Coding)

Ferrochelatase

GCID:
GC18M057544
GIFtS:
64
Genes Participants
UDN Logo

Aliases for FECH Gene

Aliases for FECH Gene

  • Ferrochelatase 2 3 5
  • Protoheme Ferro-Lyase 3 4
  • Protoporphyria 2 3
  • Heme Synthase 3 4
  • EC 4.99.1.1 4 61
  • Ferrochelatase (Protoporphyria) 2
  • Ferrochelatase, Mitochondrial 3
  • Heme Synthetase 3
  • EPP 3
  • FCE 3

External Ids for FECH Gene

Previous GeneCards Identifiers for FECH Gene

  • GC18P055578
  • GC18M055191
  • GC18M055001
  • GC18M053365
  • GC18M053367
  • GC18M051922

Summaries for FECH Gene

Entrez Gene Summary for FECH Gene

  • 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]

GeneCards Summary for FECH Gene

FECH (Ferrochelatase) is a Protein Coding gene. Diseases associated with FECH include Protoporphyria, Erythropoietic, Autosomal Recessive and Inherited Metabolic Disorder. Among its related pathways are Porphyrin and chlorophyll metabolism and HIF-1-alpha transcription factor network. GO annotations related to this gene include iron ion binding and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot for FECH Gene

  • Catalyzes the ferrous insertion into protoporphyrin IX.

Gene Wiki entry for FECH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FECH Gene

Genomics for FECH Gene

Products:

  1. Regulatory Element

Regulatory Elements for FECH Gene

Enhancers for FECH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G057582 1.5 FANTOM5 ENCODE dbSUPER 16.8 +3.3 3341 1.0 HDGF ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS JUNB NCOA1 FECH NARS GC18P057487
GH18G057629 1.1 ENCODE 11.6 -44.0 -43976 2.4 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 ZNF143 ZNF207 FOS FECH RNU6-742P NARS LOC100505549 ENSG00000267040 ENSG00000267787
GH18G057586 1.2 ENCODE dbSUPER 8.4 +0.2 225 2.4 PKNOX1 SIN3A ZNF48 YY1 GLIS2 ZNF143 ZNF207 ZNF263 YY2 MXD4 FECH NARS GC18P057487
GH18G057588 0.9 FANTOM5 7.3 -1.7 -1735 0.2 ATF1 CBX3 TBL1XR1 ARNT NFRKB TCF12 GATA2 EGR1 ZBTB2 ZNF592 FECH ENSG00000278703
GH18G057743 1.1 Ensembl ENCODE dbSUPER 4.2 -157.3 -157250 3.4 FOSL1 PKNOX1 ZNF316 JUND SMARCA4 JUN MAFK YY1 FOXA1 FECH PIR49344 LOC105372141
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FECH on UCSC Golden Path with GeneCards custom track

Promoters for FECH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000103791 172 1201 PKNOX1 SIN3A ZNF48 YY1 ZNF143 ZNF207 ZNF263 YY2 MXD4 NFYC

Transcription factor binding sites by QIAGEN in the FECH gene promoter:

Genomic Location for FECH Gene

Chromosome:
18
Start:
57,544,841 bp from pter
End:
57,586,772 bp from pter
Size:
41,932 bases
Orientation:
Minus strand

Genomic View for FECH Gene

Genes around FECH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FECH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FECH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FECH Gene

Proteins for FECH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FECH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22830-HEMH_HUMAN
    Recommended name:
    Ferrochelatase, mitochondrial
    Protein Accession:
    P22830
    Secondary Accessions:
    • A8KA72
    • Q8IXN1
    • Q8NAN0

    Protein attributes for FECH Gene

    Size:
    423 amino acids
    Molecular mass:
    47862 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for FECH Gene

    Alternative splice isoforms for FECH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FECH Gene

Protein Expression for FECH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FECH Gene

P22830:
  • TAPHKYYIGFRYV
  • SDHIETL
  • FLLRLFLD
  • QGEGMVKLLD
  • NPYRLVWQS
  • AFTQYPQYSCSTTGSSLNAIYRYYN
  • GDPYPQEV
  • ESLNGNPLFSKALADLV
  • FSAHSLP

Post-translational modifications for FECH Gene

  • Ubiquitination at isoforms=257 and isoforms=2106
  • Modification sites at PhosphoSitePlus

Other Protein References for FECH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for FECH Gene

Protein Domains for FECH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FECH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22830

UniProtKB/Swiss-Prot:

HEMH_HUMAN :
  • Belongs to the ferrochelatase family.
Family:
  • Belongs to the ferrochelatase family.
genes like me logo Genes that share domains with FECH: view

No data available for Gene Families for FECH Gene

Function for FECH Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FECH Gene

GENATLAS Biochemistry:
ferrochelatase,inner mitochondrial membrane,catalyzing heme formation,from protoporphyrin
UniProtKB/Swiss-Prot CatalyticActivity:
Protoheme + 2 H(+) = protoporphyrin + Fe(2+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor.
UniProtKB/Swiss-Prot Function:
Catalyzes the ferrous insertion into protoporphyrin IX.

Enzyme Numbers (IUBMB) for FECH Gene

Gene Ontology (GO) - Molecular Function for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004325 ferrochelatase activity TAS --
GO:0005515 protein binding IPI 15123683
GO:0008198 ferrous iron binding TAS 1729699
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FECH: view
genes like me logo Genes that share phenotypes with FECH: view

Human Phenotype Ontology for FECH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FECH Gene

MGI Knock Outs for FECH:

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for FECH Gene

Localization for FECH Gene

Subcellular locations from UniProtKB/Swiss-Prot for FECH Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FECH gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FECH: view

Pathways & Interactions for FECH Gene

genes like me logo Genes that share pathways with FECH: view

UniProtKB/Swiss-Prot P22830-HEMH_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.

Gene Ontology (GO) - Biological Process for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 1729699
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0009416 response to light stimulus TAS 1376018
GO:0010038 response to metal ion IEA --
genes like me logo Genes that share ontologies with FECH: view

No data available for SIGNOR curated interactions for FECH Gene

Drugs & Compounds for FECH Gene

Products:

  1. Drug

(20) Drugs for FECH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Protoporphyrin IX Experimental Pharma 9
heme Pharma Agonist 0

(20) Additional Compounds for FECH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
Formyl-CoA
  • Formyl coenzyme A
 13131-49-2
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FECH: view

Transcripts for FECH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FECH Gene

(5) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(255) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FECH Gene

Ferrochelatase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FECH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for FECH Gene

GeneLoc Exon Structure for
FECH
ECgene alternative splicing isoforms for
FECH

Expression for FECH Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FECH Gene

mRNA expression in normal human tissues for FECH Gene
mRNA expression by BioGPS for FECH GenemRNA expression by GTEx for FECH Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FECH Gene



Protein tissue co-expression partners for FECH Gene

NURSA nuclear receptor signaling pathways regulating expression of FECH Gene:

FECH

SOURCE GeneReport for Unigene cluster for FECH Gene:

Hs.365365

Evidence on tissue expression from TISSUES for FECH Gene

  • Liver(4.6)
  • Nervous system(3.7)
  • Bone marrow(2.6)
  • Blood(2.3)
  • Kidney(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FECH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
Organs:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • blood vessel
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with FECH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FECH Gene

Orthologs for FECH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FECH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FECH 34 35
  • 99.37 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FECH 35
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia FECH 34 35
  • 88.95 (n)
rat
(Rattus norvegicus)
 Mammalia Fech 34
  • 87.28 (n)
mouse
(Mus musculus)
 Mammalia Fech 34 16 35
  • 86.9 (n)
cow
(Bos Taurus)
 Mammalia FECH 35 34
  • 86.14 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 84 (a)
 OneToMany
-- 35
  • 79 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves FECH 34 35
  • 76.76 (n)
lizard
(Anolis carolinensis)
 Reptilia FECH 35
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fech 34
  • 75.46 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398014 34
zebrafish
(Danio rerio)
 Actinopterygii fech 34 35
  • 72.39 (n)
fruit fly
(Drosophila melanogaster)
 Insecta ferrochelatase 36 34 35
  • 59.23 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003719 34
  • 59.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGR272W 34
  • 55.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM15 34 35 37
  • 55.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20141g 34
  • 54.73 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons FC2 34
  • 49.79 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0361200 34
  • 49.15 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU08291 34
  • 58.26 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes hem15 34
  • 52.23 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.8424 34
Species where no ortholog for FECH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FECH Gene

ENSEMBL:
Gene Tree for FECH (if available)
TreeFam:
Gene Tree for FECH (if available)

Paralogs for FECH Gene

(1) SIMAP similar genes for FECH Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for FECH Gene

genes like me logo Genes that share paralogs with FECH: view

No data available for Paralogs for FECH Gene

Variants for FECH Gene

Sequence variations from dbSNP and Humsavar for FECH Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs118204037 other, Erythropoietic protoporphyria (EPP) [MIM:177000] 57,559,148(-) CCCAT(A/G/T)TCTGT intron-variant, reference, missense
rs118204039 Pathogenic, Erythropoietic protoporphyria (EPP) [MIM:177000] 57,550,734(-) ATCCT(C/T)CTTCA reference, missense
rs118204040 Pathogenic, Erythropoietic protoporphyria (EPP) [MIM:177000] 57,551,367(-) TGGAG(G/T)TGAAA reference, missense
rs150146721 Likely pathogenic, Erythropoietic protoporphyria (EPP) [MIM:177000] 57,554,336(+) CTATC(A/G)GAACC reference, missense
rs150830931 Erythropoietic protoporphyria (EPP) [MIM:177000] 57,580,082(+) TCTGC(A/C/G)GTTGA reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for FECH Gene

Variant ID Type Subtype PubMed ID
esv2751777 CNV gain 17911159
nsv1116276 CNV deletion 24896259
nsv458086 CNV gain 19166990
nsv577032 CNV gain 21841781
nsv833663 CNV gain 17160897

Variation tolerance for FECH Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FECH Gene

Human Gene Mutation Database (HGMD)
FECH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FECH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FECH Gene

Disorders for FECH Gene

MalaCards: The human disease database

(13) MalaCards diseases for FECH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
protoporphyria, erythropoietic, autosomal recessive
  • protoporphyria, erythropoietic
inherited metabolic disorder
  • inborn errors of metabolism
acute porphyria
  • hepatic porphyria
x-linked protoporphyria
  • erythropoietic protoporphyria, x-linked
porphyria
  • disorder of porphyrin and hem metabolism
- elite association - COSMIC cancer census association via MalaCards
Search FECH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEMH_HUMAN
  • Erythropoietic protoporphyria (EPP) [MIM:177000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. {ECO:0000269 PubMed:10942404, ECO:0000269 PubMed:11375302, ECO:0000269 PubMed:12063482, ECO:0000269 PubMed:12601550, ECO:0000269 PubMed:1376018, ECO:0000269 PubMed:15286165, ECO:0000269 PubMed:17196862, ECO:0000269 PubMed:1755842, ECO:0000269 PubMed:7910885, ECO:0000269 PubMed:8757534, ECO:0000269 PubMed:9211198, ECO:0000269 PubMed:9585598, ECO:0000269 PubMed:9740232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FECH

Genetic Association Database (GAD)
FECH
Human Genome Epidemiology (HuGE) Navigator
FECH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FECH
genes like me logo Genes that share disorders with FECH: view

No data available for Genatlas for FECH Gene

Publications for FECH Gene

  1. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. (PMID: 17196862) Aurizi C. … Biolcati G. (Mol. Genet. Metab. 2007) 3 4 22 64
  2. Substrate interactions with human ferrochelatase. (PMID: 17261801) Medlock A. … Lanzilotta W.N. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 22 64
  3. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. (PMID: 16385445) Gouya L. … Deybach J.C. (Am. J. Hum. Genet. 2006) 3 22 46 64
  4. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. (PMID: 12601550) Wiman A. … Harper P. (J. Hum. Genet. 2003) 3 4 22 64
  5. The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. (PMID: 11175906) Wu C.-K. … Wang B.-C. (Nat. Struct. Biol. 2001) 3 4 22 64

Products for FECH Gene

  • Cloud-Clone Corp. Antibodies for FECH
  • Cloud-Clone Corp. Proteins for FECH
  • Cloud-Clone Corp Assay Kits for FECH

Sources for FECH Gene

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