NIPA1

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]

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)[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 C1 segment lateral nuclear group of thalamus postcentral gyrus subthalamic nucleus inferior ganglion of vagus nerve Brodmann area 46 pars reticulata Pars compacta external globus pallidus Top expressed in deep cerebellar nuclei piriform cortex globus pallidus ventral tegmental area pontine nuclei lateral geniculate nucleus suprachiasmatic nucleus sciatic nerve substantia nigra trigeminal ganglion 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
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