FECH
entrez
2235
canonical
uniprot
P22830
canonical
ensembl
ENSG00000066926
resolver
ensp
ENSP00000262093
resolver
ensp
ENSP00000372326
resolver
ensp
ENSP00000498358
resolver
ensp
ENSP00000548169
resolver
ensp
ENSP00000602899
resolver
ensp
ENSP00000642134
resolver
enst
ENST00000382873
resolver
genesymbol
FECH
resolver
hgnc
HGNC:3647
resolver
uniprot
A0A499FJN5
resolver
uniprot
A8KA72
resolver
uniprot
Q8IXN1
resolver
uniprot
Q8NAN0
resolver
uniprot_entry
A0A499FJN5_HUMAN
resolver
uniprot_entry
HEMH_HUMAN
resolver
uniprot_sec
A8KA72
resolver
uniprot_sec
Q8IXN1
resolver
uniprot_sec
Q8NAN0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor. {ECO:0000303|PubMed:8973195, ECO:0000303|PubMed:9712849}.
uniprot
proteins
amino_acid_sequence
MRSLGANMAAALRAAGVLLRDPLASSSWRVCQPWRWKSGAAAAAVTTETAQHAQGAKPQVQPQKRKPKTGILMLNMGGPETLGDVHDFLLRLFLDRDLMTLPIQNKLAPFIAKRRTPKIQEQYRRIGGGSPIKIWTSKQGEGMVKLLDELSPNTAPHKYYIGFRYVHPLTEEAIEEMERDGLERAIAFTQYPQYSCSTTGSSLNAIYRYYNQVGRKPTMKWSTIDRWPTHHLLIQCFADHILKELDHFPLEKRSEVVILFSAHSLPMSVVNRGDPYPQEVSATVQKVMERLEYCNPYRLVWQSKVGPMPWLGPQTDESIKGLCERGRKNILLVPIAFTSDHIETLYELDIEYSQVLAKECGVENIRRAESLNGNPLFSKALADLVHSHIQSNELCSKQLTLSCPLCVNPVCRETKSFFTSQQL
uniprot
proteins
disease_involvement
DISEASE: Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]: An 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. {ECO:0000269|PubMed:10942404, ECO:0000269|PubMed:11375302, ECO:0000269|PubMed:12063482, ECO:0000269|PubMed:12601550, ECO:0000269|PubMed:1376018, ECO:0000269|PubMed:15286165, ECO:0000269|PubMed:17196862, ECO:0000269|PubMed:1755842, ECO:0000269|PubMed:7910885, ECO:0000269|PubMed:8757534, ECO:0000269|PubMed:9211198, ECO:0000269|PubMed:9585598, ECO:0000269|PubMed:9740232}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.98.1.1
uniprot
proteins
function
FUNCTION: Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway. {ECO:0000269|PubMed:27599036, ECO:0000269|PubMed:8276824}.
uniprot
proteins
mass_dalton
47862
uniprot
proteins
mutagenesis
MUTAGEN 110; /note="F->A: Increases activity inhibition upon interaction with PGRMC1."; /evidence="ECO:0000269|PubMed:27599036"; MUTAGEN 196; /note="C->S: Loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 360; /note="C->S: No loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 395; /note="C->S: No loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 403; /note="C->D,H: Loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 406; /note="C->D,H,S: Loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 411; /note="C->H,S: Loss of activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 417; /note="F->L: Decreased activity."; /evidence="ECO:0000269|PubMed:8276824"; MUTAGEN 417; /note="F->Y,W: Greatly reduced activity."; /evidence="ECO:0000269|PubMed:8276824
uniprot
proteins
pathway_participation
PATHWAY: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1. {ECO:0000269|PubMed:27599036, ECO:0000269|PubMed:8276824}.
uniprot
proteins
protein_family
Ferrochelatase family
uniprot
proteins
pubmed
10942404
uniprot
proteins
pubmed
11175906
uniprot
proteins
pubmed
11375302
uniprot
proteins
pubmed
12063482
uniprot
proteins
pubmed
12601550
uniprot
proteins
pubmed
1376018
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15286165
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17196862
uniprot
proteins
pubmed
17261801
uniprot
proteins
pubmed
1755842
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2260980
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27599036
uniprot
proteins
pubmed
30765471
uniprot
proteins
pubmed
7910885
uniprot
proteins
pubmed
7983009
uniprot
proteins
pubmed
8276824
uniprot
proteins
pubmed
8757534
uniprot
proteins
pubmed
8973195
uniprot
proteins
pubmed
9211198
uniprot
proteins
pubmed
9585598
uniprot
proteins
pubmed
9712849
uniprot
proteins
pubmed
9740232
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P22315}; Peripheral membrane protein {ECO:0000250|UniProtKB:P22315}; Matrix side {ECO:0000250|UniProtKB:P22315}.
uniprot
proteins