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FLASH GENE

Symbol

FTL

contributors: mct/npt - updated : 14-03-2018

HGNC name	ferritin, light polypeptide
HGNC id	3999

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CAHF hyperferritinemia cataract syndrome NBIA3 neurodegeneration with brain iron accumulation 3
Location	19q13.33      Physical location : 49.468.565 - 49.470.135
Synonym name	ferritin light polypeptide-like 3
	L apoferritin
	ferritin L subunit
	ferritin light chain
Synonym symbol(s)	IRE, PRO2760, FRIL, FTL1, MGC71996, LFTD, NBIA3

DNA

TYPE	functioning gene
STRUCTURE	1.57 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000146 4 - 889 NP_000137 19 175 - 2007 17459943

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Digestive liver       highly Urinary kidney       highly Visual eye anterior segment cornea   moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a ferritin-like diiron domain

mono polymer

heteromer , polymer

HOMOLOGY

interspecies	homolog to rattus Ftl1 (84.57 pc)
	homolog to murine Ftl2 (83.43 pc)

Homologene

FAMILY

ferritin family

CATEGORY

storage

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,inclusion

basic FUNCTION	storage of soluble iron and detoxification involved with the initiation and stabilization of the ferritin-iron core
	critical for maintaining iron homeostasis and protecting against iron overload (Sammarco 2008)
	FTL regulates the growth of glioblastoma multiforme (GBM) cells via the GADD45/JNK pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

metal

signaling

sensory transduction/vision

a component

heteromultimeric complex with FTH1, in various tissues and cell-specific proportions, arranged in a hollow shell with a 80A diameter cavity

INTERACTION

DNA

RNA

small molecule

protein	PSENEN can interact with ferritin light chain (FTL), an important component of the iron storage protein ferritin
	iron can increase gamma-secretase activity through promoting the level of FTL that interacts with and stabilizes PSENEN, providing a new molecular link between iron, PSENEN/gamma-secretase and A&
	946;PP generation in Alzheimer disease

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CAHF , NBIA3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       Ln1 variant produced by the 460InsA mutation low efficiency in iron incorporation tumoral     --over   high amounts of FTL-positive microglia/macrophages had a negative prognostic value in astrocytoma tumoral     --over   expression of FTL was higher in patients with glioblastoma multiforme (GBM) than in those with low-grade glioma

Susceptibility

hereditary ferritinopathies

Variant & Polymorphism insertion/deletion	various nucleotide insertions
	Ln1 most common variant due to an "a" nucleotide insertion at position 460
	pathogenic effects of Ln1 expression are more likely due to deregulation of cellular iron homeostasis rather than to protein conformational problems

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS