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; OMA:NIPA1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	22,829,789 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	55,669,702 bp
RNA expression pattern
	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
	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
	123606
	233280
	ENSG00000170113; ENSG00000288478
	ENSMUSG00000047037
	Q7RTP0; Q8TAY1
	Q8BHK1
	NM_144599; NM_001142275
	NM_153578
	NP_001135747; NP_653200; NP_001135747.1
	NP_705806
	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] Template:PBB Summary

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^[7]
Citrobacter infection	Normal^[8]
All tests and analysis from^[9]^[10]

Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called Nipa1^{tm1a(KOMP)Wtsi}^[11]^[12] 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.^[13]^[14]^[15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[9]^[16] Twenty four tests were carried out on mutant mice but no significant abnormalities were observed.^[9]

References

^ ^a ^b ^c ENSG00000288478 GRCh38: Ensembl release 89: ENSG00000170113, ENSG00000288478 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047037 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1".
^ "Salmonella infection data for Nipa1". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Nipa1". Wellcome Trust Sanger Institute.
^ ^a ^b ^c 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.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ 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.
^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading