FTL
entrez
2512
canonical
uniprot
P02792
canonical
ensembl
ENSG00000087086
resolver
ensp
ENSP00000366525
resolver
enst
ENST00000331825
resolver
genesymbol
FTL
resolver
hgnc
HGNC:3999
resolver
uniprot
A0A384MDR3
resolver
uniprot
B2R4B9
resolver
uniprot
Q6IBT7
resolver
uniprot
Q7Z2W1
resolver
uniprot
Q86WI9
resolver
uniprot
Q8WU07
resolver
uniprot
Q96AU9
resolver
uniprot
Q96CU0
resolver
uniprot
Q9BTZ8
resolver
uniprot_entry
A0A384MDR3_HUMAN
resolver
uniprot_entry
FRIL_HUMAN
resolver
uniprot_sec
B2R4B9
resolver
uniprot_sec
Q6IBT7
resolver
uniprot_sec
Q7Z2W1
resolver
uniprot_sec
Q86WI9
resolver
uniprot_sec
Q8WU07
resolver
uniprot_sec
Q96AU9
resolver
uniprot_sec
Q96CU0
resolver
uniprot_sec
Q9BTZ8
resolver
amino_acid_sequence
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKREGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD
uniprot
proteins
disease_involvement
DISEASE: Hyperferritinemia with or without cataract (HRFTC) [MIM:600886]: An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients. {ECO:0000269|PubMed:19176363}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. {ECO:0000269|PubMed:16116125}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: L-ferritin deficiency (LFTD) [MIM:615604]: A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency. {ECO:0000269|PubMed:23940258}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223). {ECO:0000250, ECO:0000269|PubMed:19923220, ECO:0000269|PubMed:20159981, ECO:0000269|PubMed:24695223}.
uniprot
proteins
mass_dalton
20020
uniprot
proteins
protein_family
Ferritin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16116125
uniprot
proteins
pubmed
16790936
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19176363
uniprot
proteins
pubmed
19923220
uniprot
proteins
pubmed
20159981
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23940258
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24695223
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3023856
uniprot
proteins
pubmed
3754330
uniprot
proteins
pubmed
3840162
uniprot
proteins
pubmed
3858810
uniprot
proteins
pubmed
6653779
uniprot
proteins
pubmed
8706699
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24695223}. Cytoplasm {ECO:0000250|UniProtKB:P29391}. Autolysosome {ECO:0000250|UniProtKB:P29391}.
uniprot
proteins