FXYD3

FXYD3
Identifiers
AliasesFXYD3, MAT8, PLML, FXYD domain containing ion transport regulator 3
External IDsMGI: 107497 HomoloGene: 4356 GeneCards: FXYD3
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.12Start35,115,879 bp[1]
End35,124,324 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5349

17178

Ensembl

ENSG00000089356

ENSMUSG00000057092

UniProt

Q14802

Q61835

RefSeq (mRNA)

NM_008557

RefSeq (protein)

NP_032583

Location (UCSC)Chr 19: 35.12 – 35.12 MbChr 7: 31.07 – 31.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.[5][6][7]

Function

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene may function as a chloride channel or as a chloride channel regulator. Two transcript variants encode two different isoforms of the protein; in addition, transcripts utilizing alternative polyA signals have been described in the literature.[7]

Model organisms

Model organisms have been used in the study of FXYD3 function. A conditional knockout mouse line called Fxyd3tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000089356 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057092 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Morrison BW, Moorman JR, Kowdley GC, Kobayashi YM, Jones LR, Leder P (Feb 1995). "Mat-8, a novel phospholemman-like protein expressed in human breast tumors, induces a chloride conductance in Xenopus oocytes". The Journal of Biological Chemistry. 270 (5): 2176–82. doi:10.1074/jbc.270.5.2176. PMID 7836447.
  6. ↑ Sweadner KJ, Rael E (Aug 2000). "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression". Genomics. 68 (1): 41–56. doi:10.1006/geno.2000.6274. PMID 10950925.
  7. 1 2 "Entrez Gene: FXYD3 FXYD domain containing ion transport regulator 3".
  8. ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  9. 1 2 "International Mouse Phenotyping Consortium".
  10. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  13. ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  14. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

  • Crowell KJ, Franzin CM, Koltay A, Lee S, Lucchese AM, Snyder BC, Marassi FM (Jan 2003). "Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers". Biochimica et Biophysica Acta. 1645 (1): 15–21. doi:10.1016/S1570-9639(02)00473-9. PMC 2917601. PMID 12535606.
  • Grzmil M, Voigt S, Thelen P, Hemmerlein B, Helmke K, Burfeind P (Jan 2004). "Up-regulated expression of the MAT-8 gene in prostate cancer and its siRNA-mediated inhibition of expression induces a decrease in proliferation of human prostate carcinoma cells". International Journal of Oncology. 24 (1): 97–105. doi:10.3892/ijo.24.1.97. PMID 14654946.
  • Kayed H, Kleeff J, Kolb A, Ketterer K, Keleg S, Felix K, Giese T, Penzel R, Zentgraf H, Büchler MW, Korc M, Friess H (Jan 2006). "FXYD3 is overexpressed in pancreatic ductal adenocarcinoma and influences pancreatic cancer cell growth". International Journal of Cancer. 118 (1): 43–54. doi:10.1002/ijc.21257. PMID 16003754.
  • Franzin CM, Yu J, Thai K, Choi J, Marassi FM (Dec 2005). "Correlation of gene and protein structures in the FXYD family proteins". Journal of Molecular Biology. 354 (4): 743–50. doi:10.1016/j.jmb.2005.10.018. PMC 2907130. PMID 16288923.
  • Bibert S, Roy S, Schaer D, Felley-Bosco E, Geering K (Dec 2006). "Structural and functional properties of two human FXYD3 (Mat-8) isoforms". The Journal of Biological Chemistry. 281 (51): 39142–51. doi:10.1074/jbc.M605221200. PMID 17077088.
  • Arimochi J, Ohashi-Kobayashi A, Maeda M (Apr 2007). "Interaction of Mat-8 (FXYD-3) with Na+/K+-ATPase in colorectal cancer cells". Biological & Pharmaceutical Bulletin. 30 (4): 648–54. doi:10.1248/bpb.30.648. PMID 17409496.


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