InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FTL

Summary

InnateDB Protein

IDBP-61611.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FTL

Protein Name

ferritin, light polypeptide

Synonyms

LFTD; NBIA3;

Species

Homo sapiens

Ensembl Protein

ENSP00000366525

InnateDB Gene

IDBG-61607 (FTL)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Disease Associations

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:0000269PubMed:19176363}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:16116125}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	41 [view]
Protein-Protein	40 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0008199	ferric iron binding
GO:0042802	identical protein binding

Biological Process

GO:0006826	iron ion transport
GO:0006879	cellular iron ion homeostasis
GO:0006892	post-Golgi vesicle-mediated transport
GO:0008219	cell death
GO:0055072	iron ion homeostasis
GO:0055085	transmembrane transport
GO:0061024	membrane organization