FTL

Protein identityUniProt · HPA

UniProt accession

P02792

Gene

FTL

Ensembl

ENSG00000087086

Chromosome

19

Canonical length

175 aa

Protein class

Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

175 residues, UniProt reviewed canonical sequence.

>P02792|FTL
     1  MSSQIRQNYS TDVEAAVNSL VNLYLQASYT YLSLGFYFDR DDVALEGVSH FFRELAEEKR
    61  EGYERLLKMQ NQRGGRALFQ DIKKPAEDEW GKTPDAMKAA MALEKKLNQA LLDLHALGSA
   121  RTDPHLCDFL ETHFLDEEVK LIKKMGDHLT NLHRLGGPEA GLGEYLFERL TLKHD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FTL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

14,258 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FTL.

Disease | AllUniProt

Conditions FTL is implicated in, by any mechanism.

• Hyperferritinemia with or without cataract (HRFTC) MIM:600886
• Neurodegeneration with brain iron accumulation 3 (NBIA3) MIM:606159
• L-ferritin deficiency (LFTD) MIM:615604

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 245 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary hyperferritinemia with congenital cataracts
• Neuroferritinopathy
• L-ferritin deficiency
• FTL-related disorder
• Iron metabolism disorders

Disease | ImmuneIEDB

Conditions an epitope on FTL was assayed in.

• autoimmune disease of blood B and T cell

ReferencesPubMed · IEDB

Publications for FTL from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.95

gnomAD pLI

0

gnomAD missense Z

-0.44

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular iron ion homeostasis
• iron ion transport

Molecular functions

• ferric iron binding
• ferrous iron binding
• identical protein binding
• iron ion binding

Cellular components

• autolysosome
• autophagosome
• azurophil granule lumen
• cytoplasm
• cytosol
• extracellular exosome
• extracellular region
• ferritin complex
• membrane

Protein domainsUniProt · Pfam · InterPro

• Ferritin
• Ferritin/DPS domain
• Ferritin-like diiron domain
• Ferritin-like superfamily
• Ferritin-like
• Ferritin, conserved site
• Ferritin-like domain

KeywordsUniProt

• Acetylation
• Cataract
• Cytoplasm
• Cytoplasmic vesicle
• Iron
• Iron storage
• Lysosome
• Metal-binding
• Neurodegeneration

InteractionsUniProt · HPA

Protein binding partners of FTL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NCOA4
• FTH1
• NAMPT
• SDCBP