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Aliases for FTL Gene

Aliases for FTL Gene

  • Ferritin, Light Polypeptide 2 3
  • Ferritin L Subunit 2 3 4
  • Ferritin Light Polypeptide-Like 3 2 3
  • Ferritin Light Chain 2 3
  • Ferritin L-Chain 2 3
  • NBIA3 3 6
  • LFTD 3 6
  • Neurodegeneration With Brain Iron Accumulation 3 2
  • L Apoferritin 2

External Ids for FTL Gene

Previous GeneCards Identifiers for FTL Gene

  • GC19P050126
  • GC19P049836
  • GC19P054145
  • GC19P054160
  • GC19P049468
  • GC19P045848

Summaries for FTL Gene

Entrez Gene Summary for FTL Gene

  • 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]

GeneCards Summary for FTL Gene

FTL (Ferritin, Light Polypeptide) is a Protein Coding gene. Diseases associated with FTL include neurodegeneration with brain iron accumulation 3 and hyperferritinemia-cataract syndrome. Among its related pathways are Integrated Pancreatic Cancer Pathway and Clathrin derived vesicle budding. GO annotations related to this gene include identical protein binding and oxidoreductase activity. An important paralog of this gene is FTHL17.

UniProtKB/Swiss-Prot for FTL Gene

  • 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).

Gene Wiki entry for FTL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTL Gene

Genomics for FTL Gene

Regulatory Elements for FTL Gene

Transcription factor binding sites by QIAGEN in the FTL gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FTL Gene

Start:
48,965,301 bp from pter
End:
48,966,879 bp from pter
Size:
1,579 bases
Orientation:
Plus strand

Genomic View for FTL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTL Gene

Proteins for FTL Gene

  • Protein details for FTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02792-FRIL_HUMAN
    Recommended name:
    Ferritin light chain
    Protein Accession:
    P02792
    Secondary Accessions:
    • B2R4B9
    • Q6IBT7
    • Q7Z2W1
    • Q86WI9
    • Q8WU07
    • Q96AU9
    • Q96CU0
    • Q9BTZ8

    Protein attributes for FTL Gene

    Size:
    175 amino acids
    Molecular mass:
    20020 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAE11873.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FTL Gene

neXtProt entry for FTL Gene

Proteomics data for FTL Gene at MOPED

Post-translational modifications for FTL Gene

  • Ubiquitination at Lys68
  • Modification sites at PhosphoSitePlus

Other Protein References for FTL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FTL Gene

Domains for FTL Gene

Suggested Antigen Peptide Sequences for FTL Gene

Graphical View of Domain Structure for InterPro Entry

P02792

UniProtKB/Swiss-Prot:

FRIL_HUMAN :
  • P02792
Domain:
  • Contains 1 ferritin-like diiron domain.
Family:
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTL: view

No data available for Gene Families for FTL Gene

Function for FTL Gene

Molecular function for FTL Gene

GENATLAS Biochemistry: ferritin,light polypeptide,19kDa,19.9kDa,non-storage protein
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IDA 19923220
GO:0005515 protein binding IPI 16169070
GO:0008199 ferric iron binding IEA --
GO:0042802 identical protein binding IPI 16169070
genes like me logo Genes that share ontologies with FTL: view
genes like me logo Genes that share phenotypes with FTL: view

miRNA for FTL Gene

miRTarBase miRNAs that target FTL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FTL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FTL Gene

Localization for FTL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FTL Gene COMPARTMENTS Subcellular localization image for FTL gene
Compartment Confidence
cytosol 4
extracellular 4
endosome 3
lysosome 3
plasma membrane 3
vacuole 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0008043 intracellular ferritin complex IDA 19923220
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FTL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FTL Gene

Pathways for FTL Gene

genes like me logo Genes that share pathways with FTL: view

Gene Ontology (GO) - Biological Process for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006826 iron ion transport IEA --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with FTL: view

Compounds for FTL Gene

(1) HMDB Compounds for FTL Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(2) Drugbank Compounds for FTL Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Iron Dextran
  • Dexferrum
9004-66-4 target other
Protoporphyrin Ix
553-12-8 target

(17) Novoseek inferred chemical compound relationships for FTL Gene

Compound -log(P) Hits PubMed IDs
iron 83.9 91
ferrozine 59.8 1
ferric ammonium citrate 56.8 1
deferoxamine 45.1 1
fe3+ 36.7 1
genes like me logo Genes that share compounds with FTL: view

Transcripts for FTL Gene

mRNA/cDNA for FTL Gene

Unigene Clusters for FTL Gene

Ferritin, light polypeptide:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FTL

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FTL Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for FTL Gene

GeneLoc Exon Structure for
FTL
ECgene alternative splicing isoforms for
FTL

Expression for FTL Gene

mRNA expression in normal human tissues for FTL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FTL Gene

This gene is overexpressed in Whole Blood (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FTL Gene

SOURCE GeneReport for Unigene cluster for FTL Gene Hs.433670

genes like me logo Genes that share expressions with FTL: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FTL Gene

Orthologs for FTL Gene

This gene was present in the common ancestor of animals.

Orthologs for FTL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FTL 35
  • 99.81 (n)
  • 99.43 (a)
FTL 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 47 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
FTL 36
  • 84 (a)
OneToMany
LOC788801 35
  • 87.05 (n)
  • 84 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
FTL 36
  • 87 (a)
OneToMany
FTL 36
  • 87 (a)
OneToMany
LOC102155200 35
  • 88.38 (n)
  • 86.86 (a)
mouse
(Mus musculus)
Mammalia Ftl1 35
  • 84.57 (n)
  • 81.71 (a)
Ftl1 16
Ftl1 36
  • 78 (a)
OneToMany
Gm10116 36
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FTL 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ftl1 35
  • 85.33 (n)
  • 84.57 (a)
chicken
(Gallus gallus)
Aves FTD 36
  • 21 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTL 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75752 35
MGC75752 35
  • 64.31 (n)
  • 61.76 (a)
zebrafish
(Danio rerio)
Actinopterygii FTL 36
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fer1HCH 36
  • 20 (a)
OneToMany
Fer3HCH 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ftn-1 36
  • 44 (a)
OneToMany
ftn-2 36
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11041 36
  • 42 (a)
OneToOne
Species with no ortholog for FTL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FTL Gene

ENSEMBL:
Gene Tree for FTL (if available)
TreeFam:
Gene Tree for FTL (if available)

Paralogs for FTL Gene

Paralogs for FTL Gene

Selected SIMAP similar genes for FTL Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FTL: view

Variants for FTL Gene

Sequence variations from dbSNP and Humsavar for FTL Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1803578 -- 48,966,727(+) TCAAG(C/T)ACGAC reference, missense
rs1803580 -- 48,966,721(+) TCACT(C/T)TCAAG reference, missense
rs1803581 -- 48,966,823(+) GGCAG(A/C)TTTCT utr-variant-3-prime
rs1833783 -- 48,966,280(-) GGCTT(C/G)TATAT splice-acceptor-variant
rs2230267 Likely pathogenic 48,965,830(+) GCGAA(C/T)TGGCC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for FTL Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833856 CNV Loss 17160897
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294

Relevant External Links for FTL Gene

HapMap Linkage Disequilibrium report
FTL
Human Gene Mutation Database (HGMD)
FTL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTL Gene

Disorders for FTL Gene

(3) OMIM Diseases for FTL Gene (134790)

UniProtKB/Swiss-Prot

FRIL_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed: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.

(16) Novoseek inferred disease relationships for FTL Gene

Disease -log(P) Hits PubMed IDs
hyperferritinemia-cataract syndrome 96.1 4
iron overload 82.4 3
cataract 68.4 19
hemochromatosis 52.3 1
nuclear cataract 42.1 1

Relevant External Links for FTL

GeneTests
FTL
GeneReviews
FTL
Genetic Association Database (GAD)
FTL
Human Genome Epidemiology (HuGE) Navigator
FTL
genes like me logo Genes that share disorders with FTL: view

Publications for FTL Gene

  1. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. (PMID: 14615048) Felletschin B. … Berg D. (Neurosci. Lett. 2003) 3 23 48
  2. Structure of human ferritin L chain. (PMID: 16790936) Wang Z. … Carter D.C. (Acta Crystallogr. D 2006) 3 4 23
  3. A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. (PMID: 19176363) Kannengiesser C. … Beaumont C. (Haematologica 2009) 3 4 23
  4. Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region. (PMID: 19254706) Faniello M.C. … Costanzo F. (Clin. Biochem. 2009) 3 23
  5. Ferritin L and H subunits are differentially regulated on a post-transcriptional level. (PMID: 18160403) Sammarco M.C. … Grabczyk E. (J. Biol. Chem. 2008) 3 23

Products for FTL Gene

Sources for FTL Gene

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