NIPA1

From Wikipedia, the free encyclopedia


Non imprinted in Prader-Willi/Angelman syndrome 1
Identifiers
Symbol(s) NIPA1; FSP3; MGC102724; MGC35570; SPG6
External IDs OMIM: 608145 MGI: 2442058 HomoloGene: 42327
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 123606 233280
Ensembl ENSG00000170113 ENSMUSG00000047037
Uniprot Q7RTP0 Q3TLT5
Refseq NM_144599 (mRNA)
NP_653200 (protein)		 NM_153578 (mRNA)
NP_705806 (protein)
Location Chr 15: 20.59 - 20.64 Mb Chr 7: 55.85 - 55.89 Mb
Pubmed search [1] [2]

Non imprinted in Prader-Willi/Angelman syndrome 1, also known as NIPA1, is a human gene.[1] This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[2] 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.[3][4]

[edit] References

  1. ^ Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1.
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. PMID 14508710. 

[edit] Further reading

  • Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.". Pediatrics 118 (4): e1276-83. doi:10.1542/peds.2006-0424. PMID 16982806. 
  • Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070-80. doi:10.1021/pr0502065. PMID 16335952. 
  • Munhoz RP, Kawarai T, Teive HA, et al. (2006). "Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).". Mov. Disord. 21 (2): 279-81. doi:10.1002/mds.20775. PMID 16267846. 
  • Chen S, Song C, Guo H, et al. (2006). "Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.". Hum. Mutat. 25 (2): 135-41. doi:10.1002/humu.20126. PMID 15643603. 
  • Chai JH, Locke DP, Greally JM, et al. (2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.". Am. J. Hum. Genet. 73 (4): 898-925. PMID 14508708. 
  • Toyoda N, Nagai S, Terashima Y, et al. (2003). "Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins.". Genome Res. 13 (7): 1728-36. doi:10.1101/gr.709603. PMID 12805275. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Fink JK, Jones SM, Sharp GB, et al. (1996). "Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes.". Neurology 46 (3): 835-6. PMID 8618696. 
  • Fink JK, Wu CT, Jones SM, et al. (1995). "Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.". Am. J. Hum. Genet. 56 (1): 188-92. PMID 7825577. 
 This article on a gene on chromosome 15 is a stub. You can help Wikipedia by expanding it.