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FECH Gene

protein-coding   GIFtS: 69
GCID: GC18M055191

Ferrochelatase

(Previous name: ferrochelatase (protoporphyria))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ferrochelatase1 2     FCE2 5
protoporphyria1 2     Ferrochelatase (Protoporphyria)1
Heme Synthase2 3     EPP2
Protoheme Ferro-Lyase2 3     Ferrochelatase, Mitochondrial2
EC 4.99.1.13 8     Heme Synthetase2

External Ids:    HGNC: 36471   Entrez Gene: 22352   Ensembl: ENSG000000669267   OMIM: 6123865   UniProtKB: P228303   

Export aliases for FECH gene to outside databases

Previous GC identifers: GC18P055578 GC18M055001 GC18M053365 GC18M053367 GC18M051922


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 erythropoietic protoporphyria, autosomal recessive, and erythropoietic protoporphyria. GO annotations related to this gene include ferrous iron binding and heme binding.

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
Function: Catalyzes the ferrous insertion into protoporphyrin IX

Gene Wiki entry for FECH (Ferrochelatase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the FECH gene promoter:
         HOXA3   Brachyury   HNF-1A   C/EBPalpha   Max   HNF-1   AP-2beta   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFECH promoter sequence
   Search Chromatin IP Primers for FECH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FECH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3   Ensembl cytogenetic band:  18q21.31   HGNC cytogenetic band: 18q21.2-q21.3

FECH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FECH gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M055191:  view genomic region     (about GC identifiers)

Start:
55,212,073 bp from pter      End:
55,254,004 bp from pter
Size:
41,932 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830 (See protein sequence)
Recommended Name: Ferrochelatase, mitochondrial precursor  
Size: 423 amino acids; 47862 Da
Cofactor: Binds 1 2Fe-2S cluster
Subunit: Homodimer
Selected PDB 3D structures from and Proteopedia for FECH (see all 19):
1HRK (3D)        2HRC (3D)        2HRE (3D)        2PNJ (3D)        2PO5 (3D)        2PO7 (3D)    
Secondary accessions: A8KA72 Q8IXN1 Q8NAN0
Alternative splicing: 2 isoforms:  P22830-1   P22830-2   

Explore the universe of human proteins at neXtProt for FECH: NX_P22830

Explore proteomics data for FECH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys57, Lys106
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FECH (P22830) (see all 9)
     SDHIETL  FSAHSLP  FLLRLFLD  GDPYPQEV 


    See FECH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000131.2  NP_001012533.1  

    ENSEMBL proteins: 
     ENSP00000262093   ENSP00000372326   ENSP00000465243   ENSP00000465363   ENSP00000466263  
     ENSP00000467461   ENSP00000465717  
    Reactome Protein details: P22830

    FECH Human Recombinant Protein Products:

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    Novus Biologicals FECH Proteins
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001015 Ferrochelatase
     IPR019772 Ferrochelatase_AS

    Graphical View of Domain Structure for InterPro Entry P22830

    ProtoNet protein and cluster: P22830

    1 Blocks protein domain: IPB001015 Ferrochelatase

    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
    Similarity: Belongs to the ferrochelatase family


    FECH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEMH_HUMAN, P22830
    Function: Catalyzes the ferrous insertion into protoporphyrin IX
    Catalytic activity: Protoheme + 2 H(+) = protoporphyrin + Fe(2+)
    Enzyme regulation: Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor

         Genatlas biochemistry entry for FECH:
    ferrochelatase,inner mitochondrial membrane,catalyzing heme formation,from protoporphyrin

         Enzyme Number (IUBMB): EC 4.99.1.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004325ferrochelatase activity TAS--
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI15123683
    GO:0008198ferrous iron binding TAS1729699
    GO:0020037heme binding IEA--
         
    FECH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FECH:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fech):
     adipose tissue  behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  reproductive system 

    FECH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fechtm1Dab for FECH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FECH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FECH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FECH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FECH

    miRNA
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    miRTarBase miRNAs that target FECH:
    hsa-mir-25-3p (MIRT050277), hsa-mir-16-5p (MIRT051219), hsa-mir-124-3p (MIRT022695), hsa-mir-1301-3p (MIRT036042)

    Block miRNA regulation of human, mouse, rat FECH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FECH (see all 36):
    hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidFECH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FECH

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FECH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FECH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEMH_HUMAN, P22830: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast2
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    FECH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FECH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme Biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    heme biosynthesis from uroporphyrinogen-III I0.00
    heme biosynthesis0.00
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for FECH
        Heme Biosynthesis
    heme biosynthesis from uroporphyrinogen-III I
    heme biosynthesis
    HIF-1-alpha transcription factor network


    1 Reactome Pathway for FECH
        Heme biosynthesis


    2 Kegg Pathways  (Kegg details for FECH):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
    Pathway: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step
    1/1


    FECH for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FECH
    Interactions:

        GeneGlobe Interaction Network for FECH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FECH (P228303 ENSP000003723264) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS1729699
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006783heme biosynthetic process TAS--
    GO:0008203cholesterol metabolic process IEA--

    FECH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FECH (HEMH)

    3 HMDB Compounds for FECH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Protoporphyrin IX3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11)553-12-8--

    1 DrugBank Compound for FECH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholic Acid-- 81-25-4target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for FECH gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyrin ix 96.2 166 16288996 (6), 17875605 (4), 16150949 (3), 19850353 (3) (see all 99)
    n-methylmesoporphyrin 90.3 10 10704318 (2), 19597542 (1), 17261801 (1), 16833362 (1) (see all 5)
    ppix 86.9 27 17875605 (3), 8795569 (2), 19955842 (2), 18613640 (1) (see all 13)
    haem 86.6 67 7918587 (3), 19251765 (3), 16614385 (3), 2310162 (1) (see all 33)
    mesoporphyrin 85.7 2 9989256 (1), 7947988 (1)
    porphyrin 85.2 40 12589563 (3), 12668611 (2), 8337255 (2), 10704318 (2) (see all 25)
    5-aminolevulinic acid 84.8 48 16288996 (4), 10215191 (2), 7575558 (2), 19735078 (2) (see all 22)
    protoporphyrinogen 83.4 8 8948097 (2), 1939451 (2), 9250538 (1), 12699245 (1)
    porphobilinogen 78.8 15 10207080 (1), 9744510 (1), 12699249 (1), 16125296 (1) (see all 13)
    n-methylprotoporphyrin 71.7 3 10725301 (2), 12417755 (1)



    FECH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FECH gene (2 alternative transcripts): 
    NM_000140.3  NM_001012515.2  

    Unigene Cluster for FECH:

    Ferrochelatase
    Hs.365365  [show with all ESTs]
    Unigene Representative Sequence: NM_001012515
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262093(uc002lgp.4 uc002lgq.4 uc002lgr.4) ENST00000382873
    ENST00000585494 ENST00000591977 ENST00000592699 ENST00000585699 ENST00000591215
    ENST00000585747 ENST00000585878 ENST00000592111
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Block miRNA regulation of human, mouse, rat FECH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FECH (see all 36):
    hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidFECH 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FECH
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      QuantiFast Probe-based Assays in human, mouse, rat FECH

    Additional mRNA sequence: 

    AK092416.1 AK223190.1 AK292937.1 AK299643.1 BC039841.1 BT019958.1 BT019959.1 BX571744.1 
    D00726.1 

    14 DOTS entries:

    DT.448815  DT.99934005  DT.210615  DT.92434354  DT.121091841  DT.100794168  DT.97774315  DT.121091861 
    DT.317890  DT.121091867  DT.95284942  DT.121091881  DT.91803780  DT.95284937 

    Selected AceView cDNA sequences (see all 255):

    CB996668 BQ921038 BU732261 AJ709747 H54533 AA332699 BU509615 AW052094 
    AA243731 AA243664 H54444 AW444838 AL526206 BM827704 BM928671 AI277629 
    CR623385 BC039841 BQ651052 AA918381 AA131551 AI168657 BQ185721 BI861282 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FECH (see all 6)    About this scheme

    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:                                -                                                                                 


    ECgene alternative splicing isoforms for FECH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FECH expression in normal human tissues (normalized intensities)      FECH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATTTGTTG
    FECH Expression
    About this image


    FECH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hippocampus
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    FECH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FECH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.365365
        Custom PCR Arrays for FECH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FECH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FECH gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fech1 , 5 ferrochelatase1, 5 86.9(n)1
    88.7(a)1
      18 (37.43 cM)5
    141511  NM_007998.61  NP_032024.21 
     644565505 
    chicken
    (Gallus gallus)
    Aves FECH1 ferrochelatase 76.76(n)
    83.72(a)
      374020  NM_204196.1  NP_989527.1 
    lizard
    (Anolis carolinensis)
    Reptilia FECH6
    ferrochelatase
    82(a)
    1 ↔ 1
    GL343213.1(2141622-2170695)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980142 ferrochelatase 77.74(n)    AF036617.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fech2 ferrochelatase 77.65(n)   58215  AF250368.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ferrochelatase1 , 3 protoporphyrinogen IX biosynthesis
    ferrochelatase3
    ferrochelatase1
    55(a)3
    59.23(n)1
    56.21(a)1
      100D23
    437571  NM_079874.31  NP_524613.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM15(YOR176W)4
    HEM151
    Ferrochelatase, a mitochondrial inner membrane protein, more4
    HEM151
    55.13(n)1
    52.37(a)1
      15(662401-663582)4
    8543471, 4  NP_014819.31  NP_014819.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FC21 FC2 49.79(n)
    45.22(a)
      817589  NM_001202710.1  NP_001189639.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03612001 Os05g0361200 49.15(n)
    45.19(a)
      4338537  NM_001061844.1  NP_001055309.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FECH gene
    1 SIMAP similar gene for FECH using alignment to 7 protein entries:     HEMH_HUMAN (see all proteins):
    DKFZp686P18130

    FECH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FECH
    PGOHUM00000237991


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FECH (see all 1088)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1501467211,2,,4
    CErythropoietic protoporphyria (EPP)4 --55075359(+) CTATCG/AGAACC 4 /P /L mis11Minor allele frequency- A:0.00NA 4550
    rs1182040371,2,,4
    C,FErythropoietic protoporphyria (EPP)4 untested155080169(-) CCCATA/G/TTCTGT 6 I M mis11NA 4550
    rs38485191,2,,4
    C,F,HErythropoietic protoporphyria (EPP)4 pathogenic155101125(+) TGCACA/C/TCTGGG 4 G C mis1 ese320NS EA NA CSA EU 7963
    VAR_0305594
    Erythropoietic protoporphyria (EPP)4--see VAR_0305592 Y H mis40--------
    VAR_0305614
    Erythropoietic protoporphyria (EPP)4--see VAR_0305612 C Y mis40--------
    VAR_0305604
    Erythropoietic protoporphyria (EPP)4--see VAR_0305602 P T mis40--------
    VAR_0305674
    Erythropoietic protoporphyria (EPP)4--see VAR_0305672 K N mis40--------
    VAR_0305554
    Erythropoietic protoporphyria (EPP)4--see VAR_0305552 Q L mis40--------
    VAR_0023874
    Erythropoietic protoporphyria (EPP)4--see VAR_0023872 F S mis40--------
    VAR_0305544
    Erythropoietic protoporphyria (EPP)4--see VAR_0305542 I K mis40--------

    HapMap Linkage Disequilibrium report for FECH (55212073 - 55254004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FECH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909664CNV Loss21882294
    esv2751777CNV Gain17911159
    nsv909663CNV Gain21882294
    nsv833663CNV Gain17160897
    nsv458086CNV Gain19166990

    Human Gene Mutation Database (HGMD): FECH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FECH
    DNA2.0 Custom Variant and Variant Library Synthesis for FECH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612386   
    OMIM disorders: 177000  
    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for FECH (see all 45):    About MalaCards
    erythropoietic protoporphyria, autosomal recessive    erythropoietic protoporphyria    hypochromic anemia    acute porphyria
    macrocytic anemia    cutaneous porphyria    porokeratosis    acute hepatic porphyria
    porphyria    hereditary coproporphyria    deficiency anemia    congenital erythropoietic porphyria
    porphyria cutanea tarda    iron deficiency anemia    acute intermittent porphyria    variegate porphyria
    sideroblastic anemia    refractory anemia    alcohol abuse    keratoderma

    5 diseases from the University of Copenhagen DISEASES database for FECH:
    Erythropoietic protoporphyria     Hereditary coproporphyria     Variegate porphyria     Acute intermittent porphyria
    Anemia

    FECH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for FECH gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyria erythropoietic 98.5 174 2378891 (5), 12149233 (4), 1783383 (2), 7592569 (2) (see all 99)
    skin photosensitivity 86.9 15 15654982 (2), 10942404 (1), 17298226 (1), 10068685 (1) (see all 11)
    porphyria 82.7 8 16882191 (1), 20105171 (1), 17597821 (1), 12699245 (1)
    porphyria, congenital erythropoietic 82.2 9 10582332 (1), 17297688 (1), 15046047 (1), 18846613 (1) (see all 9)
    porphyria variegate 75.8 1 12699245 (1)
    coproporphyria hereditary 74.9 1 8621830 (1)
    porphyria hepatic 72.8 2 9347226 (1), 16125296 (1)
    porphyria acute intermittent 67.5 1 12699245 (1)
    liver failure 59.6 5 8500787 (1), 10942404 (1), 7648240 (1), 15358105 (1)
    erythroleukemia 59.6 5 10903501 (1), 16288996 (1), 12480705 (1), 19965627 (1) (see all 5)

    Genetic Association Database (GAD): FECH
    Human Genome Epidemiology (HuGE) Navigator: FECH (3 documents)

    Export disorders for FECH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FECH gene, integrated from 10 sources (see all 323):
    (articles sorted by number of sources associating them with FECH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases. (PubMed id 8276824)1, 2, 9 Dailey H.A.... Dailey T.A. (J. Biol. Chem. 1994)
    2. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. (PubMed id 10942404)1, 2, 9 Schneider-Yin X....Ferreira G.C. (Blood 2000)
    3. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. (PubMed id 9585598)1, 2, 9 Ruefenacht U.B.... Deybach J.-C. (Am. J. Hum. Genet. 1998)
    4. Evidence that the fourth ligand to the 2Fe-2S cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster. (PubMed id 9712849)1, 2, 9 Sellers V.M.... Dailey H.A. (J. Biol. Chem. 1998)
    5. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. (PubMed id 17196862)1, 2, 9 Aurizi C....Biolcati G. (Mol. Genet. Metab. 2007)
    6. Substrate interactions with human ferrochelatase. (PubMed id 17261801)1, 2, 9 Medlock A.... Lanzilotta W.N. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    7. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. (PubMed id 12601550)1, 2, 9 Wiman A.... Harper P. (J. Hum. Genet. 2003)
    8. Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. (PubMed id 9740232)1, 2, 9 Gouya L.... Minder E.I. (J. Invest. Dermatol. 1998)
    9. Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster. (PubMed id 8973195)1, 2, 9 Crouse B.R.... Johnson M.K. (Biochemistry 1996)
    10. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. (PubMed id 2260980)1, 2, 9 Nakahashi Y.... Tokunaga R. (Biochem. Biophys. Res. Commun. 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2235 HGNC: 3647 AceView: FECH Ensembl:ENSG00000066926 euGenes: HUgn2235
    ECgene: FECH Kegg: 2235 H-InvDB: FECH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FECH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FECH[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Ferrochelatase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FECH gene:
    Search GeneIP for patents involving FECH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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