FTL ferritin light chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: FTLprovided by HGNC
Official Full Name: ferritin light chainprovided by HGNC
Primary source: HGNC:HGNC:3999
See related: Ensembl:ENSG00000087086 MIM:134790; AllianceGenome:HGNC:3999
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: FTL1; LFTD; NBIA3
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]
Expression: Ubiquitous expression in kidney (RPKM 2442.6), spleen (RPKM 2174.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48965309..48966879)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51960189..51961759)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49468566..49470136)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

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.
Ferritin light chain deficiency-induced ferroptosis is involved in preeclampsia pathophysiology by disturbing uterine spiral artery remodelling.
Title: Ferritin light chain deficiency-induced ferroptosis is involved in preeclampsia pathophysiology by disturbing uterine spiral artery remodelling.
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Title: Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
CD63 is regulated by iron via the IRE-IRP system and is important for ferritin secretion by extracellular vesicles.
Title: CD63 is regulated by iron via the IRE-IRP system and is important for ferritin secretion by extracellular vesicles.
Increasing ferritin predicts early death in adult hemophagocytic lymphohistiocytosis.
Title: Increasing ferritin predicts early death in adult hemophagocytic lymphohistiocytosis.
Cigarette smoke extract and heated tobacco products promote ferritin cleavage and iron accumulation in human corneal epithelial cells.
Title: Cigarette smoke extract and heated tobacco products promote ferritin cleavage and iron accumulation in human corneal epithelial cells.
Longitudinal CSF Iron Pathway Proteins in Posthemorrhagic Hydrocephalus: Associations with Ventricle Size and Neurodevelopmental Outcomes.
Title: Longitudinal CSF Iron Pathway Proteins in Posthemorrhagic Hydrocephalus: Associations with Ventricle Size and Neurodevelopmental Outcomes.
Ferritin as a key risk factor for nonalcoholic fatty liver disease in children with obesity.
Title: Ferritin as a key risk factor for nonalcoholic fatty liver disease in children with obesity.
Sialic acid-engineered mesoporous polydopamine dual loaded with ferritin gene and SPIO for achieving endogenous and exogenous synergistic T2-weighted magnetic resonance imaging of HCC.
Title: Sialic acid-engineered mesoporous polydopamine dual loaded with ferritin gene and SPIO for achieving endogenous and exogenous synergistic T2-weighted magnetic resonance imaging of HCC.
A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters.
Title: A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters.

Submit: New GeneRIF Correction See all GeneRIFs (129)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary hyperferritinemia with congenital cataracts MedGen: C1833213 OMIM: 600886 GeneReviews: Not available	not available
L-ferritin deficiency MedGen: C3810090 OMIM: 615604 GeneReviews: Not available	not available
Neuroferritinopathy MedGen: C1853578 OMIM: 606159 GeneReviews: Neuroferritinopathy, Neurodegeneration with Brain Iron Accumulation Disorders Overview	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Nef-mediated activation of NF-kappaB in macrophages induces secretion of the acute-phase protein ferritin, which is necessary and sufficient for Nef-dependent B cell changes	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ferritin, light polypeptide (FTL) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Gene Ontology Provided by GOA

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	IPI Inferred from Physical Interaction more info	PubMed
enables iron ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in iron ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in autolysosome	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in azurophil granule lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of ferritin complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: ferritin light chain

Names: epididymis secretory sperm binding protein; ferritin L subunit; ferritin L-chain; ferritin light polypeptide-like 3; ferritin, light polypeptide

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.