U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FECH ferrochelatase [ Homo sapiens (human) ]

Gene ID: 2235, updated on 9-Mar-2023

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 heme binding IEA
Inferred from Electronic Annotation
more info
 
enables iron-responsive element binding IEA
Inferred from Electronic Annotation
more info
 
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

    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

    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
    Consensus CDS
    CCDS92465.1
    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)