NIPA1

NIPA1
Identifiers
Aliases NIPA1, FSP3, SPG6, non imprinted in Prader-Willi/Angelman syndrome 1
External IDs MGI: 2442058 HomoloGene: 42327 GeneCards: NIPA1
Orthologs
Species Human Mouse
Entrez

123606

233280

Ensembl

ENSG00000170113

ENSMUSG00000047037

UniProt

Q7RTP0
Q8TAY1

Q8BHK1

RefSeq (mRNA)

NM_144599
NM_001142275

NM_153578

RefSeq (protein)

NP_001135747.1
NP_653200.2
NP_001135747.1

NP_705806.1

Location (UCSC) Chr 15: 22.77 – 22.83 Mb Chr 7: 55.98 – 56.02 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene.[3][4] This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[5] This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.[6][7]

Model organisms

Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called Nipa1tm1a(KOMP)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty four tests were carried out on mutant mice but no significant abnormalities were observed.[10]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK (Sep 2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". Am J Hum Genet. 73 (4): 967–71. doi:10.1086/378817. PMC 1180617Freely accessible. PMID 14508710.
  4. ↑ "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1".
  5. ↑ Goytain A, Hines RM, El-Husseini A, Quamme GA (2007). "NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.". J. Biol. Chem. 282 (11): 8060–8. doi:10.1074/jbc.M610314200. PMID 17166836.
  6. ↑ Reed JA, Wilkinson PA, Patel H, et al. (2005). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.". Neurogenetics. 6 (2): 79–84. doi:10.1007/s10048-004-0209-9. PMID 15711826.
  7. ↑ Rainier S, Chai JH, Tokarz D, et al. (2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).". Am. J. Hum. Genet. 73 (4): 967–71. doi:10.1086/378817. PMC 1180617Freely accessible. PMID 14508710.
  8. ↑ "Salmonella infection data for Nipa1". Wellcome Trust Sanger Institute.
  9. ↑ "Citrobacter infection data for Nipa1". Wellcome Trust Sanger Institute.
  10. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
  11. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ↑ "International Knockout Mouse Consortium".
  13. ↑ "Mouse Genome Informatics".
  14. ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750.
  15. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353.

Further reading


This article is issued from Wikipedia - version of the 6/4/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.