Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nipa1provided by MGI
Official Full Name: non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)provided by MGI
Primary source: MGI:MGI:2442058
See related: Ensembl:ENSMUSG00000047037 AllianceGenome:MGI:2442058
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FSP3; Spg6; 1110027G09Rik; A830014A18Rik
Summary: Predicted to enable magnesium ion transmembrane transporter activity. Involved in magnesium ion transport. Located in early endosome and plasma membrane. Is expressed in brain. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 6. Orthologous to human NIPA1 (NIPA magnesium transporter 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 14.8), cortex adult (RPKM 12.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B5; 7 33.42 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (55628232..55669348, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (55978484..56019600, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

indentification on mouse chromosome 7C
Title: 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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables magnesium ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in magnesium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in magnesium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in magnesium ion transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: magnesium transporter NIPA1

Names: non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog; spastic paraplegia 6 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.