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FLASH GENE
Symbol FECH contributors: mct/npt/pgu - updated : 21-03-2019
HGNC name ferrochelatase (protoporphyria)
HGNC id 3647
Corresponding disease
EPP protoporphyria, erythroid
Location 18q21.31      Physical location : 55.212.073 - 55.253.969
Synonym name
  • heme synthetase
  • protoheme ferro-lyase
  • Synonym symbol(s) FCE, HEMZ, EPP, EPP1
    EC.number 4.99.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 41.90 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    STARD6 18q21.2 START domain containing 6 MGC33382 18q21.2 hypothetical protein MGC33382 FLJ39106 18q21.2 hypothetical protein FLJ39106 LOC390857 18 similar to protein 40kD RAB27B 18q12.3-q21 RAB27B, member RAS oncogene family SE57-1 18q21 CTCL tumor antigen se57-1 TCF4 18q21.1 transcription factor 4 TXNL 18q21.2 thioredoxin-like, 32kDa WDR7 18q21.1-q22 WD repeat domain 7 MGC33608 18q21.31 hypothetical protein MGC33608 SIAT8C 18q21.2 sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase) ONECUT2 18q21.1-q21.2 one cut domain, family member 2 FECH 18q21.2 ferrochelatase (protoporphyria) NARS 18q21.2-q21.3 asparaginyl-tRNA synthetase ATP8B1 18q21 ATPase, Class I, type 8B, member 1 LOC284288 18q21.31 similar to Ribosomal protein L24-like LOC388476 18 similar to Nonhistone chromosomal protein HMG-14 (High-mobility group nucleosome binding domain 1) NEDD4L 18q21.2 neural precursor cell expressed, developmentally down-regulated 4-like HAK 18q21.31-q21.32 heart alpha-kinase MALT1 18q21 mucosa associated lymphoid tissue lymphoma translocation gene 1 FLJ10697 LOC390858 18 similar to RIKEN cDNA 5330437I02 gene LOC388477 18 LOC388477 LOC90701 18q21.32 similar to signal peptidase complex (18kD) GRP 18q21.31 gastrin-releasing peptide RAX 18q21.31 retina and anterior neural fold homeobox CPLX4 18q21.32 complexin 4 LMAN1 18q21.3-q22 lectin, mannose-binding, 1 FLJ30681 18q21.32 KIAA1983 protein LOC219542 18q21.32 similar to 40S ribosomal protein S26 LOC390859 18 similar to Chain A, Crystal Structure Of The R463a Mutant Of Human Glutamate Dehydrogenase LOC390860 18 similar to 60S acidic ribosomal protein P0 (L10E) PMAIP1 18q21.32 phorbol-12-myristate-13-acetate-induced protein 1 LOC147072 18q21.32 similar to nuclear factor (erythroid-derived 2)-like 3; NF-E2-related factor 3 LOC388478 18 similar to serologically defined colon cancer antigen 3 LOC284289 18q21.32 similar to TERA protein LOC388479 18 similar to 40S ribosomal protein S3a LOC342784 18q21.32 similar to TFIIH basal transcription factor complex p62 subunit (Basic transcription factor 62 kDa subunit) (BTF2-p62) (General transcription factor IIH polypeptide 1) MC4R 18q21.32 melanocortin 4 receptor MRPS5P4 18q21 mitochondrial ribosomal protein S5 pseudogene LOC220147 18q21.32 similar to C-terminal binding protein 2 isoform 2; ribeye
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 7277 - 423 - 2009 19703464
    11 - 7295 - 429 - 2009 19703464
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 62 AAs leader sequence is thought to target FECH to mitochondria where it is cleaved to produce the active mature protein
  • mono polymer homomer , dimer
    isoforms Precursor synthesised on cytosolic ribosomes as a preprotein with a cleavable presequence at its amino-terminus
    HOMOLOGY
    interspecies homolog to murine Fech
    Homologene
    FAMILY
  • ferrochelatase family
  • CATEGORY enzyme , storage
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text localizes to both the mitochondrial outer and inner membranes and that the change in the equilibrium position of the forward and reverse activities may be regulated by the phosphorylation of ferrochelatase
    basic FUNCTION
  • catalyzing heme formation
  • catalyzes the terminal step in the heme biosynthetic pathway, the insertion of ferrous iron into protoporphyrin IX
  • also participates in the reverse reaction of iron removal from heme
  • terminal enzyme in heme biosynthesis and catalyzes the insertion of ferrous iron into protoporphyrin IX to form protoheme IX (heme)
  • catalyzes the insertion of ferrous iron into protoporphyrin IX to form heme
  • ferrochelatase (FECH), inserts iron into protoporphyrin IX (PPIX) to form heme
  • PGRMC1 may be likely a heme chaperone or sensor
  • FECH is an enzyme necessary for heme synthesis, which is essential for maintaining normal functions of endothelial nitric oxide synthase (eNOS) and soluble guanylyl cyclase (sGC)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    protoheme biosynthesis
    a component
  • homodimeric
  • FECH forms an oligomeric complex with SLC25A37 and ABCB10 to synergistically integrate mitochondrial iron importation and use for heme biosynthesis
  • a dimeric FECH physically bridged ABCB7 and ABCB10 homodimers by binding near the NBDs of each ABC transporter
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • binds 1 2Fe-2S cluster
  • protein
  • SLC25A37 is a mitochondrial transporter of Fe used for heme formation by FECH and for 2Fe2S cluster synthesis, which is critical to FECH activity/stability
  • ATPIF1 regulates the catalytic efficiency of vertebrate FECH to synthesize haem
  • PGRMC1 may regulate FECH activity by controlling heme release
  • cell & other
    REGULATION
    inhibited by by nitric oxide (NO)
    ASSOCIATED DISORDERS
    corresponding disease(s) EPP
    related resource MITOP database
    Susceptibility to erythropoietic protoporphyria
    Variant & Polymorphism SNP , other
  • modulating the use of a constitutive aberrant acceptor splice site
  • IVS3-48C allele increasing the risk of erythropoietic protoporphyria
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualdegenerative
    FECH inhibition could be used therapeutically to block ocular neovascularization in DMLA
    ANIMAL & CELL MODELS