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    Nprl3 nitrogen permease regulator-like 3 [ Mus musculus (house mouse) ]

    Gene ID: 17168, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nprl3provided by MGI
    Official Full Name
    nitrogen permease regulator-like 3provided by MGI
    Primary source
    MGI:MGI:109258
    See related
    Ensembl:ENSMUSG00000020289 AllianceGenome:MGI:109258
    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
    Aag; Phg; Mare; HS-26; HS-40; Prox1; CGTHBA; m(alpha)RE
    Summary
    Predicted to enable GTPase activator activity. Acts upstream of or within circulatory system development and roof of mouth development. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in familial focal epilepsy with variable foci 3. Orthologous to human NPRL3 (NPR3 like, GATOR1 complex subunit). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 39.2), ovary adult (RPKM 30.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nprl3 in Genome Data Viewer
    Location:
    11 A4; 11 18.83 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (32181963..32217707, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (32231963..32267707, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E730 Neighboring gene small nuclear ribonucleoprotein 25 (U11/U12) Neighboring gene rhomboid 5 homolog 1 Neighboring gene STARR-positive B cell enhancer ABC_E11473 Neighboring gene alpha-globin locus regulatory region Neighboring gene N-methylpurine-DNA glycosylase Neighboring gene hemoglobin X, alpha-like embryonic chain in Hba complex Neighboring gene hemoglobin alpha, adult chain 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold. Iffland PH, et al. Brain, 2022 Nov 21. PMID 35136953, Free PMC Article
    2. [Principles of modern drug therapy of ischemic heart disease]. Kaverina NV. Ter Arkh, 1977. PMID 17168
    3. Nprl3 is required for normal development of the cardiovascular system. Kowalczyk MS, et al. Mamm Genome, 2012 Aug. PMID 22538705
    4. Intragenic enhancers act as alternative promoters. Kowalczyk MS, et al. Mol Cell, 2012 Feb 24. PMID 22264824
    5. The mouse alpha-globin locus regulatory element. Gourdon G, et al. Blood, 1995 Jul 15. PMID 7606006

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
      Title: NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
    2. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
      Title: Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to amino acid starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GATOR1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of GATOR1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of GATOR1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    GATOR1 complex protein NPRL3
    Names
    -14
    GATOR complex protein NPRL3
    alpha globin regulatory element containing
    alpha-globin regulatory element-containing gene protein
    nitrogen permease regulator 3-like protein
    proximal locus to the hemoglobin alpha chain complex

    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.

    mRNA and Protein(s)

    1. NM_001284359.1 → NP_001271288.1  GATOR1 complex protein NPRL3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK047190, AK086378, AL929446, BC064471
      UniProtKB/TrEMBL
      Q8BXG6
      Conserved Domains (1) summary
      cl24021
      Location:76 → 429
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    2. NM_001284360.1 → NP_001271289.1  GATOR1 complex protein NPRL3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate 5' coding exons, which causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK086378, BC064471
      UniProtKB/TrEMBL
      Q8BZ59
      Conserved Domains (1) summary
      cl24021
      Location:1 → 296
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    3. NM_181569.3 → NP_853547.1  GATOR1 complex protein NPRL3 isoform 2

      See identical proteins and their annotated locations for NP_853547.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK086378, BC064471
      Consensus CDS
      CCDS24521.1
      UniProtKB/Swiss-Prot
      Q8VIJ8
      UniProtKB/TrEMBL
      Q8BXG6
      Related
      ENSMUSP00000020530.6, ENSMUST00000020530.12
      Conserved Domains (1) summary
      cl24021
      Location:64 → 416
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    RNA

    1. NR_104306.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' splice junction, lacks an alternate 5' exon, and contains an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supportedz translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK086378, AL929446, BC064471, BY210864
      Related
      ENSMUST00000136903.8

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      32181963..32217707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VIJ8.1 GenPept UniProtKB/Swiss-Prot:Q8VIJ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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