FTL ferritin, light polypeptide [Homo sapiens] - Gene

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Summary

Official Symbol: FTLprovided by HGNC
Official Full Name: ferritin, light polypeptideprovided by HGNC
Primary source: HGNC:3999
See related: Ensembl:ENSG00000087086; HPRD:00616; MIM:134790
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NBIA3; MGC71996
Summary: This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 19q13.33

Sequence :: Chromosome: 19; NC_000019.9 (49468566..49470136)

See FTL in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Molecular genetic analysis revealed point mutations within the FTL IRE.
Title: Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
genetic variations in the HFE gene, but not plasma ferritin may have a role in coronary heart disease in Chinese
Title: Plasma ferritin levels, genetic variations in HFE gene, and coronary heart disease in Chinese: a case-control study.
There was a positive correlation between reactive oxygen species levels and serum ferritin levels in myelodysplastic syndrome patients
Title: Oxidative stress levels in myelodysplastic syndrome patients: their relationship to serum ferritin and haemoglobin values.
Genetic analysis revealed mutation G32A in Pedigree 1 and mutation G32T in Pedigree 2, both heterozygous and located in the iron-responsive element of the ferritin light chain mRNA in hyperferritinemia cataract syndrome.
Title: Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
In the family with hyperferritinemia cataract syndrome a G-->C heterozygous mutation at position +32 of FTL was identified.
Title: Hematologic biomarkers in childhood cataracts.
FTL is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
The study shows the facile assembly of mutant FTL and FTH1 subunits into soluble ferritin heteropolymers, but their ability to incorporate iron was significantly reduced relative to wild-type-FTL/FTH1 heteropolymers.
Title: Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.
Somatic mutations in the iron response elements (IRE) of the L-ferritin gene are infrequent in the age-related cataract.
Title: Mutation analysis of the ferritin L-chain gene in age-related cataract.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Toluene diisocyanate (TDI) regulates haem oxygenase-1/ferritin expression: implications for toluene diisocyanate-induced asthma.
Title: Toluene diisocyanate (TDI) regulates haem oxygenase-1/ferritin expression: implications for toluene diisocyanate-induced asthma.

Submit: New GeneRIF Correction See all (44)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Hyperferritinemia-cataract syndrome

MIM: 600886

Neurodegeneration with brain iron accumulation 3

MIM: 606159

Neuroferritinopathy typically presents with progressive adult-onset chorea or dystonia affecting one or two limbs, and subtle cognitive deficits. The movement disorder involves additional limbs within five to ten years and becomes more generalized within 20 years. When present, asymmetry remains throughout the course of the disorder. The majority of individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.

Diagnosis Testing

The diagnosis of neuroferritinopathy is based on clinical findings including adult-onset chorea or dystonia and T2 * MRI showing excess iron storage or cystic degeneration. Molecular genetic testing for FTL, the only gene in which mutations are known to cause neuroferritinopathy, is available on a clinical basis.

Genetic Counseling

Neuroferritinopathy is inherited in an autosomal dominant manner with 100% penetrance. Most individuals diagnosed with neuroferritinopathy have an affected parent; the proportion of cases caused by de novo mutations is unknown. Each child of an individual with neuroferritinopathy has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known.

References

PMID: 20301320

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
P02792	P02794	FTH1	HPRD	PubMed
P02792	P02792	FTL	HPRD	PubMed
P02792	P24522	GADD45A	HPRD	PubMed
P02792	Q8IVU1	IGDCC3	HPRD	PubMed
P02792	P01042	KNG1	HPRD	PubMed
P02792	Q12852	MAP3K12	HPRD	PubMed
P02792	Q99547	MPHOSPH6	HPRD	PubMed
P02792	Q9NZW5	MPP6	HPRD	PubMed
P02792	Q99972	MYOC	HPRD	PubMed
P02792	P21246	PTN	HPRD	PubMed
P02792	O15198	SMAD9	HPRD	PubMed
P02792	Q12962	TAF10	HPRD	PubMed
BioGRID:108789	BioGRID:130876	CLEC4G	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:108773	FTH1	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:108789	FTL	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:110026	KNG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108789	BioGRID:113566	MAP3K12	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:119675	MPP6	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:111308	PIK3CA	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:111731	PTN	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:111846	RAP2A	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:124174	SPINK7	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:112744	TAF10	BioGRID	PubMed	Two-hybrid
BioGRID:108789	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:108789	BioGRID:119509	UCHL5	BioGRID	PubMed	Affinity Capture-MS

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General gene information

Markers

RH70352 (e-PCR)
- UniSTS:87870

GDB:451601 (e-PCR)
- UniSTS:157323

SHGC-2666 (e-PCR)
- UniSTS:18852

D19S886 (e-PCR), detects polymorphism
- UniSTS:73125

MARC_5273-5274:996690236:1 (e-PCR)
- UniSTS:269480

RH70278 (e-PCR)
- UniSTS:92393

RH65295 (e-PCR)
- UniSTS:88298

SHGC-33021 (e-PCR)
- UniSTS:14324

RH79582 (e-PCR)
- UniSTS:87286

Genotypes

See FTL SNP Geneview Report
See FTL SNP Genotype Report
See FTL SNP Variation Viewer Report

Related pseudogene(s)

21 found Review record(s) in Gene

Homology

Homologs of the FTL gene: The FTL gene is conserved in chimpanzee, , dog, cow, mouse, and rat.

Pathways from BioSystems

Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
Iron uptake and transport, organism-specific biosystem (from REACTOME)
Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Mineral absorption, organism-specific biosystem (from KEGG)
Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
Mineral absorption, conserved biosystem (from KEGG)
Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, organism-specific biosystem
Porphyrin and chlorophyll metabolism
Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, conserved biosystem
Porphyrin and chlorophyll metabolism
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ferric iron binding	IEA Inferred from Electronic Annotation more info
ferroxidase activity	TAS Traceable Author Statement more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
iron ion binding	IDA Inferred from Direct Assay more info	PubMed
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info
cellular iron ion homeostasis	TAS Traceable Author Statement more info
cellular membrane organization	TAS Traceable Author Statement more info
iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
iron ion transport	IEA Inferred from Electronic Annotation more info
post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
intracellular ferritin complex	IDA Inferred from Direct Assay more info	PubMed

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General protein information

Preferred Names: ferritin light chain

Names: ferritin light chain; ferritin L-chain; ferritin L subunit; ferritin light polypeptide-like 3

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008152.1 RefSeqGene

Range

5001..6571

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000146.3 → NP_000137.2 ferritin light chain

Status: REVIEWED

Source sequence(s)

AK130191, BC004245

Consensus CDS

CCDS33070.1

UniProtKB/Swiss-Prot

P02792

Related

ENSP00000366525, ENST00000331825

Conserved Domains (2) summary

cd00904
Location:10 – 169
Blast Score: 564

Ferritin; Ferritin iron storage proteins

pfam00210
Location:14 – 155
Blast Score: 208

Ferritin; Ferritin-like domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

49468566..49470136

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

45845481..45847051

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC026803.7 (202641..204211)	None
genomic	AY660755.1	AAT66408.1
genomic	CH471177.1	EAW52422.1
		EAW52423.1
genomic	DQ094830.1	AAZ04399.1
genomic	DQ094831.1	AAZ04400.1
genomic	X03742.1	CAA27382.1
genomic	X03743.1	CAA27383.1
		CAA27384.1
mRNA	AF147331.1	None
mRNA	AK026534.1	None
mRNA	AK130191.1	None
mRNA	AK130205.1	None
mRNA	AK131048.1	None
mRNA	AK131050.1	None
mRNA	AK131053.1	None
mRNA	AK307065.1	None
mRNA	AK311773.1	BAG34716.1
mRNA	AY207005.1	AAO52739.1
mRNA	AY466472.1	AAS45711.1
mRNA	BC002991.1	AAH02991.2
mRNA	BC004245.1	AAH04245.1
mRNA	BC008439.1	AAH08439.1
mRNA	BC008441.1	None
mRNA	BC013928.1	AAH13928.1
mRNA	BC016346.1	AAH16346.1
mRNA	BC016354.1	AAH16354.1
mRNA	BC016715.1	AAH16715.1
mRNA	BC018990.2	AAH18990.1
mRNA	BC021670.1	AAH21670.1
mRNA	BC058820.1	AAH58820.1
mRNA	BC062708.1	AAH62708.1
mRNA	BC067772.1	None
mRNA	BX571748.1	CAE11873.1
mRNA	CR456715.1	CAG32996.1
mRNA	M10119.1	AAA35831.1
mRNA	M11147.1	AAA52439.1
mRNA	M12938.1	AAA52440.1
mRNA	Y09188.1	CAA70387.1
other-genetic	DQ892980.2	ABM83906.1
other-genetic	DQ896228.2	ABM87227.1
other-genetic	EU831925.1	ACE87366.1
other-genetic	EU832020.1	ACE86682.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O00563	GenPept	UniProtKB/TrEMBL:O00563
P02792.2	GenPept	UniProtKB/Swiss-Prot:P02792
Q4FCH6	GenPept	UniProtKB/TrEMBL:Q4FCH6
Q6DMM8	GenPept	UniProtKB/TrEMBL:Q6DMM8
Q6S4P3	GenPept	UniProtKB/TrEMBL:Q6S4P3
Q9P150	GenPept	UniProtKB/TrEMBL:Q9P150