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FECH ferrochelatase [ Homo sapiens (human) ]

Gene ID: 2235, updated on 3-Jun-2018
Official Symbol
FECHprovided by HGNC
Official Full Name
ferrochelataseprovided by HGNC
Primary source
HGNC:HGNC:3647
See related
Ensembl:ENSG00000066926 MIM:612386; Vega:OTTHUMG00000132740
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
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
See FECH in Genome Data Viewer
Location:
18q21.31
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (57544841..57586737, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55212073..55253969, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Neighboring gene uncharacterized LOC112267870 Neighboring gene FOXA motif-containing MPRA enhancer 78 Neighboring gene one cut homeobox 2 Neighboring gene uncharacterized LOC100505549 Neighboring gene asparaginyl-tRNA synthetase Neighboring gene ATPase phospholipid transporting 8B1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
ferrochelatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrochelatase activity IDA
Inferred from Direct Assay
more info
PubMed 
ferrochelatase activity TAS
Traceable Author Statement
more info
 
ferrous iron binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
protoporphyrinogen IX metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to insecticide IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IEA
Inferred from Electronic Annotation
more info
 
response to light stimulus TAS
Traceable Author Statement
more info
PubMed 
response to methylmercury IEA
Inferred from Electronic Annotation
more info
 
response to platinum ion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
ferrochelatase, mitochondrial
Names
heme synthase
heme synthetase
protoheme ferro-lyase
protoporphyria
NP_000131.2
NP_001012533.1
XP_011524183.1
XP_011524184.1
XP_016881103.1

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
    5001..46897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000140.3NP_000131.2  ferrochelatase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_000131.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at one of the internal coding exons, compared to transcript variant 1. This results in a slightly shorter isoform (b) with the same N- and C- termini, but missing a 6 aa segment compared to isoform a.
    Source sequence(s)
    AC100847, AI767430, AJ709747, BC039841, BU734879, BX571744, DA990386
    Consensus CDS
    CCDS11964.1
    UniProtKB/Swiss-Prot
    P22830
    UniProtKB/TrEMBL
    Q7KZA3
    Related
    ENSP00000262093.5, OTTHUMP00000163616, ENST00000262093.9, OTTHUMT00000256098
    Conserved Domains (1) summary
    pfam00762
    Location:69389
    Ferrochelatase; Ferrochelatase
  2. NM_001012515.2NP_001012533.1  ferrochelatase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001012533.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC100847, AI767430, AJ709747, AK092416, BC039841, BU734879, BX571744, DA990386
    Consensus CDS
    CCDS32836.1
    UniProtKB/Swiss-Prot
    P22830
    UniProtKB/TrEMBL
    Q7KZA3
    Related
    ENSP00000372326.3, OTTHUMP00000163617, ENST00000382873.7, OTTHUMT00000256099
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    57544841..57586737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525881.1XP_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
  2. XM_011525882.2XP_011524184.1  ferrochelatase, mitochondrial isoform X3

    Conserved Domains (3) summary
    cd00419
    Location:163300
    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:1158
    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:1317
    Ferrochelatase; Ferrochelatase
  3. XM_017025614.2XP_016881103.1  ferrochelatase, mitochondrial isoform X2

    Related
    ENSP00000466263.1, OTTHUMP00000263394, ENST00000592699.5
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