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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 63
  • Ferrochelatase (Protoporphyria) 2
  • 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 acute porphyria. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FECH Gene

Genomics for FECH Gene

Regulatory Elements for FECH Gene

Enhancers for FECH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FECH on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence for FECH Gene

Proteins for FECH Gene

  • 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

Proteomics data for FECH Gene at MOPED

Post-translational modifications for FECH Gene

  • Ubiquitination at Lys 57 and Lys 106
  • Modification sites at PhosphoSitePlus

Domains & Families for FECH Gene

Protein Domains for FECH Gene

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

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 --
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:

Animal Model 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
Jensen Localization Image for FECH Gene COMPARTMENTS Subcellular localization image for FECH gene
Compartment Confidence
mitochondrion 5
chloroplast 2
cytosol 2
extracellular 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for FECH Gene

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:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0010038 response to metal ion IEA --
GO:0010288 response to lead 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

(18) 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 6
heme Pharma Agonist 0

(22) 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

Unigene Clusters for FECH Gene

Ferrochelatase:
Representative Sequences:

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

mRNA expression in normal human tissues for FECH Gene

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



SOURCE GeneReport for Unigene cluster for FECH Gene Hs.365365

genes like me logo Genes that share expression patterns with FECH: view

Protein tissue co-expression partners for FECH Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia FECH 35
  • 86.14 (n)
  • 87.26 (a)
FECH 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FECH 35
  • 88.95 (n)
  • 90.89 (a)
FECH 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fech 35
  • 86.9 (n)
  • 88.7 (a)
Fech 16
Fech 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FECH 35
  • 99.37 (n)
  • 99.05 (a)
FECH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fech 35
  • 87.28 (n)
  • 88.39 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FECH 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves FECH 35
  • 76.76 (n)
  • 83.72 (a)
FECH 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FECH 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fech 35
  • 75.46 (n)
  • 85.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398014 35
zebrafish
(Danio rerio)
Actinopterygii fech 35
  • 72.39 (n)
  • 79.56 (a)
fech 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ferrochelatase 37
  • 55 (a)
ferrochelatase 35
  • 59.23 (n)
  • 56.21 (a)
ferrochelatase 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003719 35
  • 59.04 (n)
  • 57.34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR272W 35
  • 55.92 (n)
  • 53.43 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20141g 35
  • 54.73 (n)
  • 51.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM15 35
  • 55.13 (n)
  • 52.37 (a)
HEM15 36
  • 46 (a)
OneToOne
HEM15 38
thale cress
(Arabidopsis thaliana)
eudicotyledons FC2 35
  • 49.79 (n)
  • 45.22 (a)
rice
(Oryza sativa)
Liliopsida Os05g0361200 35
  • 49.15 (n)
  • 45.19 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8424 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08291 35
  • 58.26 (n)
  • 57.26 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem15 35
  • 52.23 (n)
  • 49.57 (a)
Species with no ortholog for FECH:
  • 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
rs3848519 Erythropoietic protoporphyria (EPP) 57,580,104(+) TGCAC(A/C/T)CTGGG reference, missense, utr-variant-5-prime
VAR_002384 Erythropoietic protoporphyria (EPP)
rs118204037 Erythropoietic protoporphyria (EPP) 57,559,148(-) CCCAT(A/G/T)TCTGT intron-variant, reference, missense
VAR_002386 Erythropoietic protoporphyria (EPP)
VAR_002387 Erythropoietic protoporphyria (EPP)

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

Variant ID Type Subtype PubMed ID
esv2751777 CNV Gain 17911159
nsv458086 CNV Gain 19166990
nsv909663 CNV Gain 21882294
nsv833663 CNV Gain 17160897
nsv909664 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
FECH
Human Gene Mutation Database (HGMD)
FECH

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

Disorders for FECH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
protoporphyria, erythropoietic, autosomal recessive
  • erythropoietic protoporphyria
acute porphyria
  • hepatic porphyria
inherited metabolic disorder
  • inborn errors of metabolism
autosomal erythropoietic protoporphyria
  • erythropoietic protoporphyria
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: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. Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases. (PMID: 8276824) Dailey H.A. … Dailey T.A. (J. Biol. Chem. 1994) 3 4 23 67
  2. Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery. (PMID: 19965627) Crooks D.R. … Rouault T.A. (Blood 2010) 3 23
  3. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (PMID: 18787536) Holme S.A. … Badminton M.N. (J. Invest. Dermatol. 2009) 3 23
  4. Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene. (PMID: 19656458) Barman J. … Minder E.I. (Cell. Mol. Biol. (Noisy-le-grand) 2009) 3 23
  5. Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. (PMID: 19656459) Schimmel R.J. … Frank J. (Cell. Mol. Biol. (Noisy-le-grand) 2009) 3 23

Products for FECH Gene

Sources for FECH Gene

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