FXYD3

FXYD domain containing ion transport regulator 3
Identifiers
Symbols FXYD3 ; MAT8; PLML
External IDs OMIM: 604996 MGI: 107497 HomoloGene: 4356 GeneCards: FXYD3 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 5349 17178
Ensembl ENSG00000089356 ENSMUSG00000057092
UniProt Q14802 Q61835
RefSeq (mRNA) NM_001136007 NM_008557
RefSeq (protein) NP_001129479 NP_032583
Location (UCSC) Chr 19:
35.12 – 35.12 Mb		 Chr 7:
31.07 – 31.08 Mb
PubMed search

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.[1][2][3]

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.[3]

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.[4] Male and female animals underwent a standardized phenotypic screen[5] to determine the effects of deletion.[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping[10]

References

  1. ↑ 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.
  2. ↑ 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.
  3. 1 2 "Entrez Gene: FXYD3 FXYD domain containing ion transport regulator 3".
  4. ↑ 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.
  5. 1 2 "International Mouse Phenotyping Consortium".
  6. ↑ 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.
  7. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  8. ↑ 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.
  9. ↑ 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.
  10. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading


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