Log in / Register

MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MGP001111

UniProt Annotations

Entry Information

Gene Name	ferritin, light polypeptide
Protein Entry	FRIL_HUMAN
UniProt ID	P02792
Species	Human

Comments

Comment type	Description
Disease	Hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]: An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. {ECO:0000269\|PubMed:19176363}. Note=The disease is caused by mutations 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. Note=The disease is caused by mutations 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 mutations affecting the gene represented in this entry.
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). {ECO:0000250}.
Interaction	Self; NbExp=5; IntAct=EBI-713279, EBI-713279; P02794:FTH1; NbExp=3; IntAct=EBI-713279, EBI-713259; P42858:HTT; NbExp=2; IntAct=EBI-713279, EBI-466029; P43490:NAMPT; NbExp=3; IntAct=EBI-713279, EBI-2829310; Q9NZ42:PSENEN; NbExp=4; IntAct=EBI-713279, EBI-998468;
Sequence Caution	Sequence=CAE11873.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the ferritin family. {ECO:0000305}.
Similarity	Contains 1 ferritin-like diiron domain. {ECO:0000255\|PROSITE-ProRule:PRU00085}.
Subunit	Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited. Iron enters the spherical protein shell through pores that are formed between subunits. Mutations leading to truncation or the addition of extra residues at the C-terminus interfere with normal pore formation and with iron accumulation. {ECO:0000269\|PubMed:16790936, ECO:0000269\|PubMed:19923220, ECO:0000269\|PubMed:20159981}.
Web Resource	Name=Wikipedia; Note=Ferritin entry; URL="http://en.wikipedia.org/wiki/Ferritin";