• Gene id: 2512

Gene Summary

• Gene Symbol: FTL   Gene   UCSC   Ensembl
• Aliases: LFTD, NBIA3
• Gene name: ferritin light chain
• Alternate names: ferritin light chain, epididymis secretory sperm binding protein, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, ferritin, light polypeptide,
• Gene location: 19q13.33 (48963940: 48966878)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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 compos
• OMIM: 134790

Protein Summary

• Protein general information: P02792  
  • Name: Ferritin light chain (Ferritin L subunit)
  • Length: 175  
  • Mass: 20020
• Sequence:

  MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKREGYERLLKMQNQRGG
  RALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLT
  NLHRLGGPEAGLGEYLFERLTLKHD

• Structural information:
  • Protein Domains: (7..15-)
    (/note="Ferritin-like-diiron)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00085"-)
  • Interpro: IPR001519  IPR012347  IPR009040  IPR009078  IPR014034   IPR008331  
  • Prosite: PS00540 PS00204 PS50905
  • PDB: 2FFX 2FG4 2FG8 3KXU 4V6B 5LG8
  • PDBsum: 2FFX 2FG4 2FG8 3KXU 4V6B 5LG8
  • DIP: 31248
  • STRING: ENSP00000366525
• Other Databases: GeneCards:  FTL  Malacards:  FTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008199	ferric iron binding	IBA	molecular function
GO:0005506	iron ion binding	IBA	molecular function
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0006880	intracellular sequestering of iron ion	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008043	intracellular ferritin complex	IDA	cellular component
GO:0008043	intracellular ferritin complex	IDA	cellular component
GO:0005506	iron ion binding	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0055072	iron ion homeostasis	TAS	biological process
GO:0006826	iron ion transport	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0008199	ferric iron binding	IEA	molecular function
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005506	iron ion binding	TAS	molecular function
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008043	intracellular ferritin complex	TAS	cellular component
GO:0044754	autolysosome	IDA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa04978	Mineral absorption
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neuroferritinopathy	KEGG:H01779
Hereditary hyperferritinaemia-cataract syndrome	KEGG:H02204
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neuroferritinopathy	KEGG:H01779
Hereditary hyperferritinaemia-cataract syndrome	KEGG:H02204
Neurodegeneration with brain iron accumulation 3	PMID:17142829
Hyperferritinemia-cataract syndrome	PMID:22020773
neurodegenerative disease	PMID:19519778
neurodegenerative disease	PMID:15099026
basal ganglia disease	PMID:11438811
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray