NIPA1

NIPA1
Identifiers
Aliases	NIPA1 , FSP3, SPG6, non imprinted in Prader-Willi/Angelman syndrome 1, SLC57A1, NIPA magnesium transporter 1
External IDs	OMIM: 608145 MGI: 2442058 HomoloGene: 42327 GeneCards: NIPA1
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q11.2 Start 22,773,063 bp [1] End 22,829,789 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B5 Start 55,627,315 bp [2] End 55,669,702 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus postcentral gyrus subthalamic nucleus inferior ganglion of vagus nerve Brodmann area 46 external globus pallidus pons superior frontal gyrus middle temporal gyrus medulla oblongata Top expressed in piriform cortex globus pallidus ventral tegmental area pontine nuclei lateral geniculate nucleus suprachiasmatic nucleus sciatic nerve substantia nigra trigeminal ganglion medial geniculate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function magnesium ion transmembrane transporter activity Cellular component integral component of membrane endosome plasma membrane early endosome membrane Biological process magnesium ion transmembrane transport ion transport transmembrane transport magnesium ion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 123606 233280 Ensembl ENSG00000170113 ENSG00000288478 ENSMUSG00000047037 UniProt Q7RTP0 Q8TAY1 Q8BHK1 RefSeq (mRNA) NM_144599 NM_001142275 NM_153578 RefSeq (protein) NP_001135747 NP_653200 NP_001135747.1 NP_705806 Location (UCSC) Chr 15: 22.77 – 22.83 Mb Chr 7: 55.63 – 55.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. ^{[5] [6]} This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. ^[7] 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. ^{[8] [9]}

Model organisms

Nipa1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal [10]
Citrobacter infection	Normal [11]
All tests and analysis from [12] [13]

Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called Nipa1^{tm1a(KOMP)Wtsi [14] [15]} 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. ^{[16] [17] [18]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[12] [19]} Twenty four tests were carried out on mutant mice but no significant abnormalities were observed. ^[12]

References

1. ENSG00000288478 GRCh38: Ensembl release 89: ENSG00000170113, ENSG00000288478 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047037 - 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. 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   1180617 . PMID   14508710.
6. "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1".
7. 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.
8. 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. S2CID   2236413.
9. 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   1180617 . PMID   14508710.
10. "Salmonella infection data for Nipa1". Wellcome Trust Sanger Institute.
11. "Citrobacter infection data for Nipa1". Wellcome Trust Sanger Institute.
12. 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. S2CID   85911512.
13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
14. "International Knockout Mouse Consortium".
15. "Mouse Genome Informatics".
16. 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   3572410 . PMID   21677750.
17. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
18. 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. S2CID   18872015.
19. 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   3218837 . PMID   21722353.

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. PMC   5453799 . 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. PMC   1850943 . 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. S2CID   21070143.
• 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. S2CID   5773016.
• 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. doi:10.1086/378816. PMC   1180611 . 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. PMC   403746 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. doi:10.1212/wnl.46.3.835. PMID   8618696. S2CID   39414032.
• 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. PMC   1801321 . PMID   7825577.