FTL (ferritin light chain)

2007-02-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
LFTD,NBIA3
FUSION GENES

Other Information

Locus ID:

NCBI: 2512
MIM: 134790
HGNC: 3999
Ensembl: ENSG00000087086

Variants:

dbSNP: 2512
ClinVar: 2512
TCGA: ENSG00000087086
COSMIC: FTL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087086ENST00000331825P02792
ENSG00000087086ENST00000331825A0A384MDR3

Expression (GTEx)

0
5000
10000
15000

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Neutrophil degranulationREACTOMER-HSA-6798695
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
253272882014Selective VPS34 inhibitor blocks autophagy and uncovers a role for NCOA4 in ferritin degradation and iron homeostasis in vivo.154
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
174599432007Ferritin: a novel mechanism for delivery of iron to the brain and other organs.55
162170412005DNA and mRNA elements with complementary responses to hemin, antioxidant inducers, and iron control ferritin-L expression.52
176608022007Prognostic significance of drug-regulated genes in high-grade osteosarcoma.44
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
195197782009Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene.32
177610322007The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays.28
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
201599812010Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.24

Citation

Dessen P

FTL (ferritin light chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45708/ftl-(ferritin-light-chain)