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

    Gene ID: 233280, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 14.8), cortex adult (RPKM 12.2) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Nipa1 in Genome Data Viewer
    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_000073.7Genomic Context describing neighboring genes Neighboring gene cytoplasmic FMR1 interacting protein 1 Neighboring gene peroxiredoxin 3 pseudogene Neighboring gene RIKEN cDNA A230056P14 gene Neighboring gene STARR-positive B cell enhancer mm9_chr7:63223630-63223930 Neighboring gene non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) Neighboring gene STARR-seq mESC enhancer starr_18963 Neighboring gene ribosomal protein S12-like 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:63305247-63305356 Neighboring gene predicted gene, 34121 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene predicted gene, 51510

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_153578.3NP_705806.1  magnesium transporter NIPA1

      See identical proteins and their annotated locations for NP_705806.1

      Status: VALIDATED

      Source sequence(s)
      AC102121
      Consensus CDS
      CCDS21317.1
      UniProtKB/Swiss-Prot
      Q8BHK1
      Related
      ENSMUSP00000053871.6, ENSMUST00000052204.6
      Conserved Domains (1) summary
      cl23754
      Location:25307
      EamA; EamA-like transporter family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      55628232..55669348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)