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Nprl2 NPR2 like, GATOR1 complex subunit [ Mus musculus (house mouse) ]

Gene ID: 56032, updated on 5-Mar-2024

Summary

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Official Symbol
Nprl2provided by MGI
Official Full Name
NPR2 like, GATOR1 complex subunitprovided by MGI
Primary source
MGI:MGI:1914482
See related
Ensembl:ENSMUSG00000010057 AllianceGenome:MGI:1914482
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
G21; NPR2L; Tusc4; 2810446G01Rik
Summary
Predicted to enable protein kinase activity. Predicted to contribute to GTPase activator activity. Predicted to be involved in several processes, including cellular response to starvation; negative regulation of TOR signaling; and regulation of autophagosome assembly. Predicted to be located in lysosomal membrane. Predicted to be part of GATOR1 complex. Human ortholog(s) of this gene implicated in focal epilepsy. Orthologous to human NPRL2 (NPR2 like, GATOR1 complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 22.0), whole brain E14.5 (RPKM 21.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 F1; 9 58.12 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107419405..107422905)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (107542177..107545706)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10583 Neighboring gene transmembrane protein 115 Neighboring gene cytochrome b-561 domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E10584 Neighboring gene STARR-positive B cell enhancer ABC_E3857 Neighboring gene zinc finger, MYND domain containing 10 Neighboring gene predicted gene, 34106 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107453431-107453584 Neighboring gene Ras association (RalGDS/AF-6) domain family member 1 Neighboring gene STARR-positive B cell enhancer ABC_E9335 Neighboring gene predicted gene 9917

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. Loss of a Negative Regulator of mTORC1 Induces Aerobic Glycolysis and Altered Fiber Composition in Skeletal Muscle. Dutchak PA, et al. Cell Rep, 2018 May 15. PMID 29768191, Free PMC Article
  2. NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis. Hui JB, et al. eNeuro, 2022 Mar-Apr. PMID 35165201, Free PMC Article
  3. Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model. Dentel B, et al. iScience, 2022 May 20. PMID 35602938, Free PMC Article
  4. Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development. Yuan F, et al. Cell Death Dis, 2021 Jun 3. PMID 34083520, Free PMC Article
  5. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy. Ishida S, et al. Hum Mol Genet, 2022 May 4. PMID 34965576, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development.
    Title: Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development.
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of kinase activity ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
GATOR1 complex protein NPRL2
Names
GATOR complex protein NPRL2
NPR2-like protein
gene 21 protein
nitrogen permase homolog
nitrogen permease regulator 2-like protein
nitrogen permease regulator-like 2
tumor suppressor candidate 4

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_018879.2 → NP_061367.1  GATOR1 complex protein NPRL2

    See identical proteins and their annotated locations for NP_061367.1

    Status: VALIDATED

    Source sequence(s)
    AI843290, AK010331, BY131176
    Consensus CDS
    CCDS23492.1
    UniProtKB/Swiss-Prot
    Q9WUE4
    Related
    ENSMUSP00000010201.4, ENSMUST00000010201.9
    Conserved Domains (1) summary
    cl24021
    Location:7 → 370
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3

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_000075.7 Reference GRCm39 C57BL/6J

    Range
    107419405..107422905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511768.3 → XP_006511831.1  GATOR1 complex protein NPRL2 isoform X1

    Conserved Domains (1) summary
    cl24021
    Location:7 → 311
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3

  2. XM_036155141.1 → XP_036011034.1  GATOR1 complex protein NPRL2 isoform X2

    Conserved Domains (1) summary
    cl24021
    Location:7 → 240
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3

  3. XM_006511769.5 → XP_006511832.1  GATOR1 complex protein NPRL2 isoform X3

    Conserved Domains (1) summary
    cl24021
    Location:7 → 222
    NPR3; Nitrogen Permease regulator of amino acid transport activity 3

RNA

  1. XR_379769.3 RNA Sequence

  2. XR_004935491.1 RNA Sequence

    Related
    ENSMUST00000193628.6

  3. XR_003947955.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WUE4.1 GenPept UniProtKB/Swiss-Prot:Q9WUE4

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