FTH1

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FTH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFTH1, FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1
External IDsOMIM: 134770 MGI: 95588 HomoloGene: 74295 GeneCards: FTH1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002032

NM_010239

RefSeq (protein)

NP_002023

NP_034369

Location (UCSC)Chr 11: 61.96 – 61.97 MbChr 19: 9.96 – 9.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene.[5][6] FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.[7]

Function

This gene encodes the heavy subunit of ferritin, 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 ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined.[6]

Interactions

FTH1 has been shown to interact with ferritin light chain.[8][9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167996 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024661 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hentze MW, Keim S, Papadopoulos P, O'Brien S, Modi W, Drysdale J, Leonard WJ, Harford JB, Klausner RD (October 1986). "Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene". Proceedings of the National Academy of Sciences of the United States of America. 83 (19): 7226–30. Bibcode:1986PNAS...83.7226H. doi:10.1073/pnas.83.19.7226. PMC 386688. PMID 3020541.
  6. ^ a b "Entrez Gene: FTH1 ferritin, heavy polypeptide 1".
  7. ^ "Hemochromatosis type 5 - About the Disease - Genetic and Rare Diseases Information Center".
  8. ^ 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 (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  9. ^ 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 (September 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.