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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]
FTL (Ferritin Light Chain) is a Protein Coding gene. Diseases associated with FTL include Hyperferritinemia With Or Without Cataract and Neurodegeneration With Brain Iron Accumulation 3. Among its related pathways are Clathrin derived vesicle budding and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and ferric iron binding. An important paralog of this gene is FTH1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005506 | iron ion binding | TAS,IDA | 19923220 |
GO:0005515 | protein binding | IPI | 16169070 |
GO:0008198 | ferrous iron binding | IBA | 21873635 |
GO:0008199 | ferric iron binding | IBA | 21873635 |
GO:0042802 | identical protein binding | IPI | 16169070 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0008043 | intracellular ferritin complex | TAS,IDA | 19923220 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | Innate Immune System |
.61
|
|
3 | Necroptosis | ||
4 | Binding and Uptake of Ligands by Scavenger Receptors | ||
5 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006826 | iron ion transport | IEA | -- |
GO:0006879 | cellular iron ion homeostasis | TAS | -- |
GO:0006880 | intracellular sequestering of iron ion | IBA | 21873635 |
GO:0043312 | neutrophil degranulation | TAS | -- |
GO:0055072 | iron ion homeostasis | TAS | 19923220 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iron | Approved, Experimental | Pharma | 1560 | |||
Ferric pyrophosphate citrate | Approved, Investigational | Pharma | Target, binder | 0 | ||
Ferumoxytol | Approved, Investigational | Pharma | Transporter, storage | 0 | ||
Gallium citrate Ga-67 | Approved | Pharma | Transporter, substrate | 0 | ||
Iron Dextran | Approved, Vet_approved | Pharma | Target, other | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FTL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC102155200 30 |
|
||
FTL 31 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | LOC788801 30 |
|
||
FTL 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Ftl1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ftl1 30 17 31 |
|
OneToMany | |
Gm10116 31 |
|
OneToMany | |||
Ftl1-ps2 17 |
|
|
|||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FTL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FTD 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FTL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC75752 30 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | FTL 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Fer3HCH 31 |
|
OneToMany | |
Fer1HCH 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ftn-2 31 |
|
OneToMany | |
ftn-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11041 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647521 | Pathogenic: Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy | 48,965,351(+) | G/A | FIVE_PRIME_UTR_VARIANT | |
655682 | Uncertain Significance: Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy | 48,966,583(+) | C/G | MISSENSE_VARIANT | |
696650 | Likely Benign: not provided | 48,965,594(+) | C/T | SYNONYMOUS_VARIANT | |
800272 | Likely Benign: not provided | 48,966,727(+) | C/T | MISSENSE_VARIANT | |
860119 | Uncertain Significance: Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy | 48,965,919(+) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperferritinemia with or without cataract |
|
|
neurodegeneration with brain iron accumulation 3 |
|
|
l-ferritin deficiency |
|
|
genetic hyperferritinemia without iron overload |
|
|
neurodegeneration with brain iron accumulation |
|
|