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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 56
  • 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 and Inherited Metabolic Disorder. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for FECH Gene

Promoters and enhancers for FECH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I057586 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 558.5 +0.2 224 2.4 SIN3A ZNF48 YY1 GLIS2 ZNF207 ZNF143 ATF7 RUNX3 YY2 NFYC FECH NARS GC18P057487
GH18I057588 Enhancer 0.8 FANTOM5 557.4 -1.7 -1734 0.2 ATF1 ARNT NFRKB TCF12 GATA2 EGR1 ZBTB2 ZNF592 NFIC SMARCA4 FECH ENSG00000278703
GH18I057585 Enhancer 0.3 dbSUPER 550.8 +1.6 1600 0.1 MLLT1 FECH GC18P057487
GH18I057587 Enhancer 0.3 dbSUPER 550.8 -1.1 -1117 0.1 ADNP ENSG00000278703 FECH
GH18I057582 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 16.9 +3.3 3340 1 HDGF ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 NCOA1 ZNF592 GMEB1 FECH NARS GC18P057487
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FECH on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FECH Gene

Genomic Locations for FECH Gene
chr18:57,544,841-57,586,772
(GRCh38/hg38)
Size:
41,932 bases
Orientation:
Minus strand
chr18:55,212,073-55,254,004
(GRCh37/hg19)

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

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 Lys57 and Lys106

Domains & Families for FECH Gene

Gene Families for FECH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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:

Clone 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
nucleus 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS,IEA --
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

(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 12
heme Pharma Agonist 0

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

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:

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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)

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

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 33 34
  • 99.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FECH 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FECH 33 34
  • 88.95 (n)
rat
(Rattus norvegicus)
Mammalia Fech 33
  • 87.28 (n)
mouse
(Mus musculus)
Mammalia Fech 33 16 34
  • 86.9 (n)
cow
(Bos Taurus)
Mammalia FECH 33 34
  • 86.14 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves FECH 33 34
  • 76.76 (n)
lizard
(Anolis carolinensis)
Reptilia FECH 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fech 33
  • 75.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398014 33
zebrafish
(Danio rerio)
Actinopterygii fech 33 34
  • 72.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta ferrochelatase 35 33 34
  • 59.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003719 33
  • 59.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR272W 33
  • 55.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM15 33 34 36
  • 55.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20141g 33
  • 54.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FC2 33
  • 49.79 (n)
rice
(Oryza sativa)
Liliopsida Os05g0361200 33
  • 49.15 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08291 33
  • 58.26 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem15 33
  • 52.23 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8424 33
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 Variation AA Info Type
rs1019145125 uncertain-significance, Erythropoietic protoporphyria 57,549,536(-) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1024681908 uncertain-significance, Erythropoietic protoporphyria 57,550,576(-) C/G 3_prime_UTR_variant
rs1034691435 uncertain-significance, Erythropoietic protoporphyria 57,546,475(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1037970377 uncertain-significance, Erythropoietic protoporphyria 57,548,271(-) C/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1041951 benign, Erythropoietic protoporphyria 57,573,273(-) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
protoporphyria, erythropoietic
  • epp
inherited metabolic disorder
  • inborn errors of metabolism
porphyria
  • disorder of porphyrin and hem metabolism
acute porphyria
  • hepatic porphyria
x-linked protoporphyria
- 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.

Additional Disease Information for FECH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular genetics and metabolism 2007) 3 4 22 58
  2. Substrate interactions with human ferrochelatase. (PMID: 17261801) Medlock A … Lanzilotta WN (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  3. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. (PMID: 16385445) Gouya L … Deybach JC (American journal of human genetics 2006) 3 22 44 58
  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 (Journal of human genetics 2003) 3 4 22 58
  5. The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. (PMID: 11175906) Wu CK … Wang BC (Nature structural biology 2001) 3 4 22 58

Products for FECH Gene

Sources for FECH Gene

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