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

Gene ID: 17168, updated on 12-May-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 contribute to GTPase activator activity. Acts upstream of or within circulatory system development and roof of mouth development. Predicted to be located in lysosomal membrane. Predicted to be part of GATOR1 complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in focal epilepsy. Orthologous to human NPRL3 (NPR3 like, GATOR1 complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
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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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

Expression

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  • 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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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. Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype. Anguita E, et al. Blood, 2002 Nov 15. PMID 12393394

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
contributes_to GTPase activator activity ISO
Inferred from Sequence Orthology
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 negative regulation of TOR signaling ISO
Inferred from Sequence Orthology
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 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
  
is_active_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
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

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