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    FECH ferrochelatase [ Homo sapiens (human) ]

    Gene ID: 2235, updated on 12-Aug-2022

    Summary

    Official Symbol
    FECHprovided by HGNC
    Official Full Name
    ferrochelataseprovided by HGNC
    Primary source
    HGNC:HGNC:3647
    See related
    Ensembl:ENSG00000066926 MIM:612386; AllianceGenome:HGNC:3647
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPP; FCE; EPP1
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 19.5), kidney (RPKM 8.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FECH in Genome Data Viewer
    Location:
    18q21.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (57544377..57586702, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (57744729..57787055, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55211609..55253934, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Neighboring gene FOXA motif-containing MPRA enhancer 78 Neighboring gene one cut homeobox 2 Neighboring gene Sharpr-MPRA regulatory region 4588 Neighboring gene ATP8B1 antisense RNA 1 Neighboring gene asparaginyl-tRNA synthetase 1 Neighboring gene ATPase phospholipid transporting 8B1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pol gag-pol HIV-1 Pol is identified to have a physical interaction with ferrochelatase (FECH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferrochelatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ferrochelatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ferrous iron binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ferrochelatase, mitochondrial
    Names
    heme synthase
    heme synthetase
    protoheme ferro-lyase
    protoporphyria
    NP_000131.2
    NP_001012533.1
    NP_001358023.1
    NP_001358024.1
    NP_001361707.1
    XP_011524183.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008175.1 RefSeqGene

      Range
      5036..47361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1080

    mRNA and Protein(s)

    1. NM_000140.5NP_000131.2  ferrochelatase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_000131.2

      Status: REVIEWED

      Source sequence(s)
      AC100847
      Consensus CDS
      CCDS11964.1
      UniProtKB/Swiss-Prot
      P22830, Q8NAN0
      UniProtKB/TrEMBL
      Q7KZA3
      Related
      ENSP00000262093.6, ENST00000262093.11
      Conserved Domains (1) summary
      pfam00762
      Location:69389
      Ferrochelatase; Ferrochelatase
    2. NM_001012515.4NP_001012533.1  ferrochelatase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001012533.1

      Status: REVIEWED

      Source sequence(s)
      AC100847
      Consensus CDS
      CCDS32836.1
      UniProtKB/Swiss-Prot
      P22830
      UniProtKB/TrEMBL
      Q7KZA3
      Related
      ENSP00000498358.1, ENST00000652755.1
      Conserved Domains (3) summary
      cd00419
      Location:241378
      Ferrochelatase_C; Ferrochelatase, C-terminal domain: Ferrochelatase (protoheme ferrolyase or HemH) is the terminal enzyme of the heme biosynthetic pathway. It catalyzes the insertion of ferrous iron into the protoporphyrin IX ring yielding protoheme. This enzyme is ...
      cd03411
      Location:75236
      Ferrochelatase_N; Ferrochelatase, N-terminal domain: Ferrochelatase (protoheme ferrolyase or HemH) is the terminal enzyme of the heme biosynthetic pathway. It catalyzes the insertion of ferrous iron into the protoporphyrin IX ring yielding protoheme. This enzyme is ...
      pfam00762
      Location:75395
      Ferrochelatase; Ferrochelatase
    3. NM_001371094.1NP_001358023.1  ferrochelatase, mitochondrial isoform c

      Status: REVIEWED

      Source sequence(s)
      AC100847, BC039841
      Related
      ENSP00000466263.1, ENST00000592699.6
      Conserved Domains (1) summary
      pfam00762
      Location:68356
      Ferrochelatase
    4. NM_001371095.1NP_001358024.1  ferrochelatase, mitochondrial isoform d

      Status: REVIEWED

      Source sequence(s)
      AC100847, BC039841, DC341584
      UniProtKB/TrEMBL
      A0A499FJN5
      Related
      ENSP00000372326.4, ENST00000382873.8
      Conserved Domains (1) summary
      pfam00762
      Location:1317
      Ferrochelatase
    5. NM_001374778.1NP_001361707.1  ferrochelatase, mitochondrial isoform e

      Status: REVIEWED

      Source sequence(s)
      AC100847
      Conserved Domains (1) summary
      pfam00762
      Location:68369
      Ferrochelatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      57544377..57586702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525881.2XP_011524183.1  ferrochelatase, mitochondrial isoform X1

      Conserved Domains (3) summary
      cd00419
      Location:235345
      Ferrochelatase_C; Ferrochelatase, C-terminal domain: Ferrochelatase (protoheme ferrolyase or HemH) is the terminal enzyme of the heme biosynthetic pathway. It catalyzes the insertion of ferrous iron into the protoporphyrin IX ring yielding protoheme. This enzyme is ...
      cd03411
      Location:75236
      Ferrochelatase_N; Ferrochelatase, N-terminal domain: Ferrochelatase (protoheme ferrolyase or HemH) is the terminal enzyme of the heme biosynthetic pathway. It catalyzes the insertion of ferrous iron into the protoporphyrin IX ring yielding protoheme. This enzyme is ...
      pfam00762
      Location:75362
      Ferrochelatase; Ferrochelatase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      57744729..57787055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)