Ftl1 ferritin light polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ftl1provided by MGI
Official Full Name: ferritin light polypeptide 1provided by MGI
Primary source: MGI:MGI:95589
See related: Ensembl:ENSMUSG00000050708 AllianceGenome:MGI:95589
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ftl; Ftl-1; L-ferritin
Summary: Predicted to enable ferric iron binding activity; ferrous iron binding activity; and identical protein binding activity. Predicted to be involved in intracellular sequestering of iron ion. Predicted to be located in autolysosome. Predicted to be part of intracellular ferritin complex. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; ciliary body; liver; and retina nuclear layer. Human ortholog(s) of this gene implicated in basal ganglia disease; hyperferritinemia-cataract syndrome; neurodegeneration with brain iron accumulation 3; and neurodegenerative disease. Orthologous to human FTL (ferritin light chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver adult (RPKM 4436.7), adrenal adult (RPKM 2649.8) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.32 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45107368..45109310, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45457944..45459886, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
Title: Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
iron overload due to impaired ferritinophagy or other cause(s) is likely to initiate prion-like spread of alpha-syn and ferritin, creating retinal iron dyshomeostasis and associated cytotoxicity. Since over-expression of alpha-syn is a known cause of Parkinson's disease.
Title: α-Synuclein impairs ferritinophagy in the retinal pigment epithelium: Implications for retinal iron dyshomeostasis in Parkinson's disease.
Ferritin is considered the major iron storage protein which maintains a large iron core in its cavity and has ferroxidase activity. (Review)
Title: Ferritin, cellular iron storage and regulation.
Analysis of Ftl-/- mice revealed systemic and brain iron dyshomeostasis, without any noticeable signs of neurodegeneration.
Title: Systemic and cerebral iron homeostasis in ferritin knock-out mice.
Noncoding G-to-T transversion (c.-168G>T) located in the iron response element (IRE) of the gene coding for ferritin light chain (FTL) cosegregated with cataract in the family.
Title: Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.
Hx plays an important role in controlling iron distribution within brain, thus suggesting its involvement in iron-related neurodegenerative diseases.
Title: Haemopexin affects iron distribution and ferritin expression in mouse brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17911 (e-PCR)
- UniSTS:124738

Ftl1 (e-PCR), detects polymorphism
- UniSTS:532424

Clone Names

MGC102130, MGC102131, MGC118079, MGC118080

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ferric iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular sequestering of iron ion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in autolysosome	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
part_of intracellular ferritin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ferritin light chain 1

Names: ferritin L subunit 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.