Ferritin light chain

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FTL
Protein FTL PDB 2ffx.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases FTL, LFTD, NBIA3, ferritin, light polypeptide
External IDs MGI: 5434102 HomoloGene: 79330 GeneCards: 2512
RNA expression pattern
PBB GE FTL 212788 x at tn.png

PBB GE FTL 213187 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000146

XM_003688879
XM_006542883

RefSeq (protein)

NP_000137.2

n/a

Location (UCSC) Chr 19: 48.97 – 48.97 Mb n/a
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Ferritin light chain is a protein that in humans is encoded by the FTL gene.[3][4][5]

It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.[6]

Function[edit]

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. This gene has multiple pseudogenes.[5]

Although ferritin light chain has no ferroxidase activity, the light chain may be responsible for the electron transfer across the ferritin protein cage.[7]

Clinical significance[edit]

Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome.[8]

Mutations of the FTL gene cause the rare adult-onset basal ganglia disease also known as neuroferritinopathy).[9]

Interactions[edit]

Ferritin light chain has been shown to interact with FTH1.[10][11]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Lebo RV, Kan YW, Cheung MC, Jain SK, Drysdale J (Jan 1986). "Human ferritin light chain gene sequences mapped to several sorted chromosomes". Hum. Genet. 71 (4): 325–8. doi:10.1007/BF00388458. PMID 3000916.  Check date values in: |year= / |date= mismatch (help)
  4. ^ Gasparini P, Calvano S, Memeo E, Bisceglia L, Zelante L (Apr 1998). "Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization". Ann. Genet. 40 (4): 227–8. PMID 9526618.  Check date values in: |year= / |date= mismatch (help)
  5. ^ a b "FTL ferritin, light polypeptide". National Center for Biotechnology Information. 5 July 2009. Retrieved 20 July 2009. 
  6. ^ Zhang Y, Zhang YL, Feng C, Wu YT, Liu AX, Sheng JZ, Cai J, Huang HF (October 2008). "Comparative proteomic analysis of human placenta derived from assisted reproductive technology". Proteomics. 8 (20): 4344–56. doi:10.1002/pmic.200800294. PMID 18792929. 
  7. ^ Carmona U, Li L, Zhang L, Knez M (2014). "Ferritin light-chain subunits: key elements for the electron transfer across the protein cage". Chemical Communications. 50 (97): 15358–15361. doi:10.1039/c4cc07996e. PMID 25348725. 
  8. ^ Zandman-Goddard G, Shoenfeld Y (2007). "Ferritin in autoimmune diseases". Autoimmun Rev. 6 (7): 457–63. doi:10.1016/j.autrev.2007.01.016. PMID 17643933. 
  9. ^ Gregory A, Hayflick SJ (2011). "Genetics of neurodegeneration with brain iron accumulation". Curr Neurol Neurosci Rep. 11 (3): 254–61. doi:10.1007/s11910-011-0181-3. PMID 21286947. 
  10. ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  11. ^ Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070. 

Further reading[edit]

External links[edit]