ENSG00000066926


Homo sapiens

Features
Gene ID: ENSG00000066926
  
Biological name :FECH
  
Synonyms : FECH / ferrochelatase / P22830
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.31
Gene start: 57548283
Gene end: 57586772
  
Corresponding Affymetrix probe sets: 203115_at (Human Genome U133 Plus 2.0 Array)   203116_s_at (Human Genome U133 Plus 2.0 Array)   229696_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467461
Ensembl peptide - ENSP00000465717
Ensembl peptide - ENSP00000466263
Ensembl peptide - ENSP00000262093
Ensembl peptide - ENSP00000372326
Ensembl peptide - ENSP00000465243
Ensembl peptide - ENSP00000465363
NCBI entrez gene - 2235     See in Manteia.
OMIM - 612386
RefSeq - XM_017025614
RefSeq - NM_000140
RefSeq - NM_001012515
RefSeq - XM_011525881
RefSeq - XM_011525882
RefSeq Peptide - NP_000131
RefSeq Peptide - NP_001012533
swissprot - K7EJX5
swissprot - K7EKP7
swissprot - K7ELX4
swissprot - P22830
swissprot - K7EPN2
swissprot - K7EJM8
Ensembl - ENSG00000066926
  
Related genetic diseases (OMIM): 177000 - Protoporphyria, erythropoietic, 1, 177000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fechENSDARG00000003462Danio rerio
 FECHENSGALG00000038461Gallus gallus
 FechENSMUSG00000024588Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001015  Ferrochelatase
 IPR019772  Ferrochelatase, active site
 IPR033644  Ferrochelatase, C-terminal
 IPR033659  Ferrochelatase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process IEA
 biological_processGO:0009416 response to light stimulus TAS
 biological_processGO:0010038 response to metal ion IEA
 biological_processGO:0010288 response to lead ion IEA
 biological_processGO:0017085 response to insecticide IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0046501 protoporphyrinogen IX metabolic process IDA
 biological_processGO:0046685 response to arsenic-containing substance IEA
 biological_processGO:0051597 response to methylmercury IEA
 biological_processGO:0070541 response to platinum ion IEA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 cellular_componentGO:0005739 mitochondrion IBA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004325 ferrochelatase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008198 ferrous iron binding TAS
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0001081 Cholelithiasis 
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 HP:0001394 Cirrhosis 
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 HP:0001399 Hepatic failure 
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 HP:0001410 Decreased liver function 
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 HP:0001878 Hemolytic anemia 
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 HP:0001935 Microcytic anemia 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0010472 Abnormality of the heme biosynthetic pathway "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [HPO:curators]
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000066926 FECH / P22830 / ferrochelatase  / complex






 

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