ID:FRIL_HUMAN DESCRIPTION: RecName: Full=Ferritin light chain; Short=Ferritin L subunit; 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). 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. INTERACTION: Self; NbExp=5; IntAct=EBI-713279, EBI-713279; DISEASE: Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]. It is an autosomal dominant disease characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin. HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene. DISEASE: Defects in FTL are the cause of neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159]; also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. SIMILARITY: Belongs to the ferritin family. SIMILARITY: Contains 1 ferritin-like diiron domain. SEQUENCE CAUTION: Sequence=CAE11873.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FTL"; WEB RESOURCE: Name=Wikipedia; Note=Ferritin entry; URL="http://en.wikipedia.org/wiki/Ferritin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P02792
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006826 iron ion transport GO:0006879 cellular iron ion homeostasis GO:0006880 intracellular sequestering of iron ion GO:0043312 neutrophil degranulation GO:0055072 iron ion homeostasis
GeneReviews article(s) related to gene FTL: dystonia-ov (Hereditary Dystonia Overview) nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview) neuroferritin (Neuroferritinopathy)
Gene Model Information
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Methods, Credits, and Use Restrictions
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US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
