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Entry version 202 (13 Feb 2019)
Sequence version 2 (10 May 2005)
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Protein

Ferrochelatase, mitochondrial

Gene

FECH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the ferrous insertion into protoporphyrin IX.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[2Fe-2S] clusterNote: Binds 1 [2Fe-2S] cluster.

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protoheme biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes protoheme from protoporphyrin-IX.
Proteins known to be involved in this subpathway in this organism are:
  1. Ferrochelatase (DKFZp686P18130), Ferrochelatase, Ferrochelatase (FECH), Ferrochelatase, Ferrochelatase, Ferrochelatase, mitochondrial (FECH)
This subpathway is part of the pathway protoheme biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes protoheme from protoporphyrin-IX, the pathway protoheme biosynthesis and in Porphyrin-containing compound metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi196Iron-sulfur (2Fe-2S)1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2301
Active sitei3831
Metal bindingi403Iron-sulfur (2Fe-2S)1
Metal bindingi406Iron-sulfur (2Fe-2S)1
Metal bindingi411Iron-sulfur (2Fe-2S)1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • 2 iron, 2 sulfur cluster binding Source: UniProtKB-KW
  • ferrochelatase activity Source: BHF-UCL
  • ferrous iron binding Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
Biological processHeme biosynthesis, Porphyrin biosynthesis
Ligand2Fe-2S, Iron, Iron-sulfur, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS00891-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
4.99.1.1 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-189451 Heme biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P22830

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00252;UER00325

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ferrochelatase, mitochondrial (EC:4.99.1.1)
Alternative name(s):
Heme synthase
Protoheme ferro-lyase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FECH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000066926.10

Human Gene Nomenclature Database

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HGNCi
HGNC:3647 FECH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612386 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P22830

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Protoporphyria, erythropoietic, 1 (EPP1)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of porphyria with onset usually before age 10 years. 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.
See also OMIM:177000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00238355G → C in EPP1. 1 PublicationCorresponds to variant dbSNP:rs3848519EnsemblClinVar.1
Natural variantiVAR_03055362P → R in EPP1. 1 PublicationCorresponds to variant dbSNP:rs150830931Ensembl.1
Natural variantiVAR_03055471I → K in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030555139Q → L in EPP1; enzyme retains 18% of activity. 1 PublicationCorresponds to variant dbSNP:rs1356965294Ensembl.1
Natural variantiVAR_030556151S → P in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030557178E → K in EPP1. 1 PublicationCorresponds to variant dbSNP:rs1160565035Ensembl.1
Natural variantiVAR_030558182L → R in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_002384186I → T in EPP1. 1 Publication1
Natural variantiVAR_030559191Y → H in EPP1; enzyme retains 72% of activity. 1 PublicationCorresponds to variant dbSNP:rs1055019947Ensembl.1
Natural variantiVAR_030560192P → T in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030561236C → Y in EPP1; enzyme retains 12% of activity. 1 PublicationCorresponds to variant dbSNP:rs761962617Ensembl.1
Natural variantiVAR_030562260F → L in EPP1; enzyme retains 52% of activity. 1 Publication1
Natural variantiVAR_054629264S → L in EPP1. 1 Publication1
Natural variantiVAR_002385267M → I in EPP1; unchanged activity; but increased thermolability. 1 PublicationCorresponds to variant dbSNP:rs118204037EnsemblClinVar.1
Natural variantiVAR_030563283T → I in EPP1; enzyme almost inactive. 1 Publication1
Natural variantiVAR_030564288M → K in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030565334P → L in EPP1; enzyme retains 19% of activity. 2 PublicationsCorresponds to variant dbSNP:rs150146721EnsemblClinVar.1
Natural variantiVAR_030566362V → G in EPP1. 1 PublicationCorresponds to variant dbSNP:rs118204040EnsemblClinVar.1
Natural variantiVAR_030567379K → N in EPP1; enzyme retains 37% of activity. 1 Publication1
Natural variantiVAR_002386386H → P in EPP1; loss of activity. 1 Publication1
Natural variantiVAR_030568406C → S in EPP1; enzyme almost inactive. 1 Publication1
Natural variantiVAR_030569406C → Y in EPP1; enzyme almost inactive. 1 PublicationCorresponds to variant dbSNP:rs1324421474Ensembl.1
Natural variantiVAR_030570408 – 411NPVC → KSVG in EPP1; no detectable enzymatic activity. 4
Natural variantiVAR_002387417F → S in EPP1; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs118204039EnsemblClinVar.1
Natural variantiVAR_030571417Missing in EPP1; enzyme totally inactive. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi196C → S: Loss of activity. 1 Publication1
Mutagenesisi360C → S: No loss of activity. 1 Publication1
Mutagenesisi395C → S: No loss of activity. 1 Publication1
Mutagenesisi403C → D or H: Loss of activity. 1 Publication1
Mutagenesisi406C → D, H or S: Loss of activity. 1 Publication1
Mutagenesisi411C → H or S: Loss of activity. 1 Publication1
Mutagenesisi417F → L: Decreased activity. 1 Publication1
Mutagenesisi417F → Y or W: Greatly reduced activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
2235

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FECH

MalaCards human disease database

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MalaCardsi
FECH
MIMi177000 phenotype

Open Targets

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OpenTargetsi
ENSG00000066926

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
79278 Autosomal erythropoietic protoporphyria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28087

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3879831

Drug and drug target database

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DrugBanki
DB02659 Cholic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FECH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85701348

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 54MitochondrionSequence analysisAdd BLAST54
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000887355 – 423Ferrochelatase, mitochondrialAdd BLAST369

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei57N6-acetyllysineBy similarity1
Modified residuei138N6-succinyllysineBy similarity1
Modified residuei415N6-acetyllysine; alternateBy similarity1
Modified residuei415N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P22830

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P22830

MaxQB - The MaxQuant DataBase

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MaxQBi
P22830

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P22830

PeptideAtlas

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PeptideAtlasi
P22830

PRoteomics IDEntifications database

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PRIDEi
P22830

ProteomicsDB human proteome resource

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ProteomicsDBi
54041
54042 [P22830-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P22830

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P22830

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000066926 Expressed in 206 organ(s), highest expression level in trabecular bone tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P22830 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P22830 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA044100
HPA048177

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PGRMC1O002643EBI-1390356,EBI-1045534

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108526, 50 interactors

Database of interacting proteins

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DIPi
DIP-39632N

Protein interaction database and analysis system

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IntActi
P22830, 39 interactors

Molecular INTeraction database

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MINTi
P22830

STRING: functional protein association networks

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STRINGi
9606.ENSP00000372326

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1423
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HRKX-ray2.00A/B65-423[»]
2HRCX-ray1.70A/B65-423[»]
2HREX-ray2.50A/B/C/D65-423[»]
2PNJX-ray2.35A/B65-423[»]
2PO5X-ray2.20A/B65-423[»]
2PO7X-ray2.20A/B65-423[»]
2QD1X-ray2.20A/B/C/D65-423[»]
2QD2X-ray2.20A/B65-423[»]
2QD3X-ray2.20A/B65-423[»]
2QD4X-ray2.00A/B65-423[»]
2QD5X-ray2.30A/B65-423[»]
3AQIX-ray1.70A/B65-423[»]
3HCNX-ray1.60A/B65-423[»]
3HCOX-ray1.80A/B65-423[»]
3HCPX-ray2.00A/B65-423[»]
3HCRX-ray2.20A/B65-423[»]
3W1WX-ray2.01A/B61-423[»]
4F4DX-ray1.80A/B65-423[»]
4KLAX-ray2.60A/B65-423[»]
4KLCX-ray2.40A/B65-423[»]
4KLRX-ray2.18A/B65-423[»]
4KMMX-ray2.60A/B65-423[»]
4MK4X-ray2.50A/B65-423[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P22830

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P22830

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P22830

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ferrochelatase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1321 Eukaryota
COG0276 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016258

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060727

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051898

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P22830

KEGG Orthology (KO)

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KOi
K01772

Identification of Orthologs from Complete Genome Data

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OMAi
LGDPYHC

Database of Orthologous Groups

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OrthoDBi
1003638at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P22830

TreeFam database of animal gene trees

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TreeFami
TF300859

Family and domain databases

Conserved Domains Database

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CDDi
cd00419 Ferrochelatase_C, 1 hit
cd03411 Ferrochelatase_N, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00323 Ferrochelatase, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001015 Ferrochelatase
IPR019772 Ferrochelatase_AS
IPR033644 Ferrochelatase_C
IPR033659 Ferrochelatase_N

The PANTHER Classification System

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PANTHERi
PTHR11108 PTHR11108, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00762 Ferrochelatase, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00109 hemH, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00534 FERROCHELATASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P22830-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSLGANMAA ALRAAGVLLR DPLASSSWRV CQPWRWKSGA AAAAVTTETA
60 70 80 90 100
QHAQGAKPQV QPQKRKPKTG ILMLNMGGPE TLGDVHDFLL RLFLDRDLMT
110 120 130 140 150
LPIQNKLAPF IAKRRTPKIQ EQYRRIGGGS PIKIWTSKQG EGMVKLLDEL
160 170 180 190 200
SPNTAPHKYY IGFRYVHPLT EEAIEEMERD GLERAIAFTQ YPQYSCSTTG
210 220 230 240 250
SSLNAIYRYY NQVGRKPTMK WSTIDRWPTH HLLIQCFADH ILKELDHFPL
260 270 280 290 300
EKRSEVVILF SAHSLPMSVV NRGDPYPQEV SATVQKVMER LEYCNPYRLV
310 320 330 340 350
WQSKVGPMPW LGPQTDESIK GLCERGRKNI LLVPIAFTSD HIETLYELDI
360 370 380 390 400
EYSQVLAKEC GVENIRRAES LNGNPLFSKA LADLVHSHIQ SNELCSKQLT
410 420
LSCPLCVNPV CRETKSFFTS QQL
Length:423
Mass (Da):47,862
Last modified:May 10, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3FD50965E8DEABCE
GO
Isoform 2 (identifier: P22830-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-64: K → KRYESNI

Show »
Length:429
Mass (Da):48,625
Checksum:iE1CBA7E0055A24F5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJX5K7EJX5_HUMAN
Ferrochelatase
FECH
143Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELX4K7ELX4_HUMAN
Ferrochelatase, mitochondrial
FECH
326Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EKP7K7EKP7_HUMAN
Ferrochelatase, mitochondrial
FECH
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJM8K7EJM8_HUMAN
Ferrochelatase, mitochondrial
FECH
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPN2K7EPN2_HUMAN
Ferrochelatase, mitochondrial
FECH
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti228P → S in BAC03882 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00238355G → C in EPP1. 1 PublicationCorresponds to variant dbSNP:rs3848519EnsemblClinVar.1
Natural variantiVAR_03055362P → R in EPP1. 1 PublicationCorresponds to variant dbSNP:rs150830931Ensembl.1
Natural variantiVAR_03055471I → K in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_01202896R → Q2 PublicationsCorresponds to variant dbSNP:rs1041951EnsemblClinVar.1
Natural variantiVAR_030555139Q → L in EPP1; enzyme retains 18% of activity. 1 PublicationCorresponds to variant dbSNP:rs1356965294Ensembl.1
Natural variantiVAR_030556151S → P in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030557178E → K in EPP1. 1 PublicationCorresponds to variant dbSNP:rs1160565035Ensembl.1
Natural variantiVAR_030558182L → R in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_002384186I → T in EPP1. 1 Publication1
Natural variantiVAR_030559191Y → H in EPP1; enzyme retains 72% of activity. 1 PublicationCorresponds to variant dbSNP:rs1055019947Ensembl.1
Natural variantiVAR_030560192P → T in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030561236C → Y in EPP1; enzyme retains 12% of activity. 1 PublicationCorresponds to variant dbSNP:rs761962617Ensembl.1
Natural variantiVAR_030562260F → L in EPP1; enzyme retains 52% of activity. 1 Publication1
Natural variantiVAR_054629264S → L in EPP1. 1 Publication1
Natural variantiVAR_002385267M → I in EPP1; unchanged activity; but increased thermolability. 1 PublicationCorresponds to variant dbSNP:rs118204037EnsemblClinVar.1
Natural variantiVAR_030563283T → I in EPP1; enzyme almost inactive. 1 Publication1
Natural variantiVAR_030564288M → K in EPP1; enzyme totally inactive. 1 Publication1
Natural variantiVAR_030565334P → L in EPP1; enzyme retains 19% of activity. 2 PublicationsCorresponds to variant dbSNP:rs150146721EnsemblClinVar.1
Natural variantiVAR_030566362V → G in EPP1. 1 PublicationCorresponds to variant dbSNP:rs118204040EnsemblClinVar.1
Natural variantiVAR_030567379K → N in EPP1; enzyme retains 37% of activity. 1 Publication1
Natural variantiVAR_002386386H → P in EPP1; loss of activity. 1 Publication1
Natural variantiVAR_030568406C → S in EPP1; enzyme almost inactive. 1 Publication1
Natural variantiVAR_030569406C → Y in EPP1; enzyme almost inactive. 1 PublicationCorresponds to variant dbSNP:rs1324421474Ensembl.1
Natural variantiVAR_030570408 – 411NPVC → KSVG in EPP1; no detectable enzymatic activity. 4
Natural variantiVAR_002387417F → S in EPP1; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs118204039EnsemblClinVar.1
Natural variantiVAR_030571417Missing in EPP1; enzyme totally inactive. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04120864K → KRYESNI in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D00726 mRNA Translation: BAA00628.1
AJ250235 Genomic DNA Translation: CAB65962.1
BT019958 mRNA Translation: AAV38761.1
AK092416 mRNA Translation: BAC03882.1
AK292937 mRNA Translation: BAF85626.1
CH471096 Genomic DNA Translation: EAW63046.1
BC039841 mRNA Translation: AAH39841.2
L36178 Genomic DNA Translation: AAA64787.1
AF495859 Genomic DNA Translation: AAM18070.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11964.1 [P22830-1]
CCDS32836.1 [P22830-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A36403

NCBI Reference Sequences

More...
RefSeqi
NP_000131.2, NM_000140.3 [P22830-1]
NP_001012533.1, NM_001012515.2 [P22830-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.365365

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262093; ENSP00000262093; ENSG00000066926 [P22830-1]
ENST00000382873; ENSP00000372326; ENSG00000066926 [P22830-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2235

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2235

UCSC genome browser

More...
UCSCi
uc002lgp.5 human [P22830-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Ferrochelatase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D00726 mRNA Translation: BAA00628.1
AJ250235 Genomic DNA Translation: CAB65962.1
BT019958 mRNA Translation: AAV38761.1
AK092416 mRNA Translation: BAC03882.1
AK292937 mRNA Translation: BAF85626.1
CH471096 Genomic DNA Translation: EAW63046.1
BC039841 mRNA Translation: AAH39841.2
L36178 Genomic DNA Translation: AAA64787.1
AF495859 Genomic DNA Translation: AAM18070.1
CCDSiCCDS11964.1 [P22830-1]
CCDS32836.1 [P22830-2]
PIRiA36403
RefSeqiNP_000131.2, NM_000140.3 [P22830-1]
NP_001012533.1, NM_001012515.2 [P22830-2]
UniGeneiHs.365365

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HRKX-ray2.00A/B65-423[»]
2HRCX-ray1.70A/B65-423[»]
2HREX-ray2.50A/B/C/D65-423[»]
2PNJX-ray2.35A/B65-423[»]
2PO5X-ray2.20A/B65-423[»]
2PO7X-ray2.20A/B65-423[»]
2QD1X-ray2.20A/B/C/D65-423[»]
2QD2X-ray2.20A/B65-423[»]
2QD3X-ray2.20A/B65-423[»]
2QD4X-ray2.00A/B65-423[»]
2QD5X-ray2.30A/B65-423[»]
3AQIX-ray1.70A/B65-423[»]
3HCNX-ray1.60A/B65-423[»]
3HCOX-ray1.80A/B65-423[»]
3HCPX-ray2.00A/B65-423[»]
3HCRX-ray2.20A/B65-423[»]
3W1WX-ray2.01A/B61-423[»]
4F4DX-ray1.80A/B65-423[»]
4KLAX-ray2.60A/B65-423[»]
4KLCX-ray2.40A/B65-423[»]
4KLRX-ray2.18A/B65-423[»]
4KMMX-ray2.60A/B65-423[»]
4MK4X-ray2.50A/B65-423[»]
ProteinModelPortaliP22830
SMRiP22830
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108526, 50 interactors
DIPiDIP-39632N
IntActiP22830, 39 interactors
MINTiP22830
STRINGi9606.ENSP00000372326

Chemistry databases

ChEMBLiCHEMBL3879831
DrugBankiDB02659 Cholic Acid

PTM databases

iPTMnetiP22830
PhosphoSitePlusiP22830

Polymorphism and mutation databases

BioMutaiFECH
DMDMi85701348

Proteomic databases

EPDiP22830
jPOSTiP22830
MaxQBiP22830
PaxDbiP22830
PeptideAtlasiP22830
PRIDEiP22830
ProteomicsDBi54041
54042 [P22830-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2235
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262093; ENSP00000262093; ENSG00000066926 [P22830-1]
ENST00000382873; ENSP00000372326; ENSG00000066926 [P22830-2]
GeneIDi2235
KEGGihsa:2235
UCSCiuc002lgp.5 human [P22830-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2235
DisGeNETi2235
EuPathDBiHostDB:ENSG00000066926.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FECH
GeneReviewsiFECH
HGNCiHGNC:3647 FECH
HPAiHPA044100
HPA048177
MalaCardsiFECH
MIMi177000 phenotype
612386 gene
neXtProtiNX_P22830
OpenTargetsiENSG00000066926
Orphaneti79278 Autosomal erythropoietic protoporphyria
PharmGKBiPA28087

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1321 Eukaryota
COG0276 LUCA
GeneTreeiENSGT00390000016258
HOGENOMiHOG000060727
HOVERGENiHBG051898
InParanoidiP22830
KOiK01772
OMAiLGDPYHC
OrthoDBi1003638at2759
PhylomeDBiP22830
TreeFamiTF300859

Enzyme and pathway databases

UniPathwayi
UPA00252;UER00325

BioCyciMetaCyc:HS00891-MONOMER
BRENDAi4.99.1.1 2681
ReactomeiR-HSA-189451 Heme biosynthesis
SABIO-RKiP22830

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FECH human
EvolutionaryTraceiP22830

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Ferrochelatase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2235

Protein Ontology

More...
PROi
PR:P22830

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000066926 Expressed in 206 organ(s), highest expression level in trabecular bone tissue
ExpressionAtlasiP22830 baseline and differential
GenevisibleiP22830 HS

Family and domain databases

CDDicd00419 Ferrochelatase_C, 1 hit
cd03411 Ferrochelatase_N, 1 hit
HAMAPiMF_00323 Ferrochelatase, 1 hit
InterProiView protein in InterPro
IPR001015 Ferrochelatase
IPR019772 Ferrochelatase_AS
IPR033644 Ferrochelatase_C
IPR033659 Ferrochelatase_N
PANTHERiPTHR11108 PTHR11108, 1 hit
PfamiView protein in Pfam
PF00762 Ferrochelatase, 1 hit
TIGRFAMsiTIGR00109 hemH, 1 hit
PROSITEiView protein in PROSITE
PS00534 FERROCHELATASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHEMH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P22830
Secondary accession number(s): A8KA72, Q8IXN1, Q8NAN0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: May 10, 2005
Last modified: February 13, 2019
This is version 202 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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