FTH1
entrez
2495
canonical
uniprot
P02794
canonical
ensembl
ENSG00000167996
resolver
ensp
ENSP00000273550
resolver
ensp
ENSP00000484477
resolver
enst
ENST00000273550
resolver
enst
ENST00000620041
resolver
genesymbol
FTH1
resolver
genesymbol_syn
FTH
resolver
genesymbol_syn
FTHL6
resolver
hgnc
HGNC:3976
resolver
uniprot
B3KNR5
resolver
uniprot
Q3KRA8
resolver
uniprot
Q3SWW1
resolver
uniprot_entry
FRIH_HUMAN
resolver
uniprot_sec
B3KNR5
resolver
uniprot_sec
Q3KRA8
resolver
uniprot_sec
Q3SWW1
resolver
amino_acid_sequence
MTTASTSQVRQNYHQDSEAAINRQINLELYASYVYLSMSYYFDRDDVALKNFAKYFLHQSHEEREHAEKLMKLQNQRGGRIFLQDIKKPDCDDWESGLNAMECALHLEKNVNQSLLELHKLATDKNDPHLCDFIETHYLNEQVKAIKELGDHVTNLRKMGAPESGLAEYLFDKHTLGDSDNES
uniprot
proteins
disease_involvement
DISEASE: Hemochromatosis 5 (HFE5) [MIM:615517]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269|PubMed:11389486}. Note=The disease is caused by variants affecting the gene represented in this entry. In a Japanese family affected by HFE5, a single point mutation has been detected in the iron-responsive element (IRE) in the 5'-UTR of FTH1 mRNA. This mutation leads to an increased binding affinity for iron regulatory protein and thereby to the efficient suppression of mRNA translation.; DISEASE: Neurodegeneration with brain iron accumulation 9 (NBIA9) [MIM:620669]: An autosomal dominant neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. It is characterized by global developmental delay apparent from infancy, and progressive decline of motor and cognitive skills. Clinical features include delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. {ECO:0000269|PubMed:37660254}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.16.3.1
uniprot
proteins
function
FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubMed:24695223, PubMed:26436293). {ECO:0000250|UniProtKB:P09528, ECO:0000269|PubMed:24695223, ECO:0000269|PubMed:26436293, ECO:0000269|PubMed:9003196}.
uniprot
proteins
mass_dalton
21226
uniprot
proteins
mutagenesis
MUTAGEN 23; /note="R->A: Abrogates interaction with NCOA4. Fails to localize to punctate lysosomal structures."; /evidence="ECO:0000269|PubMed:26436293"; MUTAGEN 28; /note="E->A: Reduces iron binding and oxidation rate; when associated with Q-87."; /evidence="ECO:0000269|PubMed:9003196"; MUTAGEN 87; /note="K->Q: Reduces iron binding and oxidation rate; when associated with A-28. No effect on iron binding but the oxidation rate is severely reduced; when associated with A-108."; /evidence="ECO:0000269|PubMed:9003196"; MUTAGEN 108; /note="E->A: No effect on iron binding but the oxidation rate is severely reduced; when associated with Q-87."; /evidence="ECO:0000269|PubMed:9003196
uniprot
proteins
protein_family
Ferritin family
uniprot
proteins
pubmed
11389486
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1992356
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24695223
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26436293
uniprot
proteins
pubmed
3003694
uniprot
proteins
pubmed
3020541
uniprot
proteins
pubmed
3023856
uniprot
proteins
pubmed
37660254
uniprot
proteins
pubmed
3840162
uniprot
proteins
pubmed
6323167
uniprot
proteins
pubmed
6589621
uniprot
proteins
pubmed
7916709
uniprot
proteins
pubmed
9003196
uniprot
proteins
pubmed
9159481
uniprot
proteins
sequence_length
183
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26436293}. Lysosome {ECO:0000269|PubMed:26436293}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24695223}.
uniprot
proteins