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    NPRL2 NPR2 like, GATOR1 complex subunit [ Homo sapiens (human) ]

    Gene ID: 10641, updated on 10-Dec-2024

    Summary

    Official Symbol
    NPRL2provided by HGNC
    Official Full Name
    NPR2 like, GATOR1 complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:24969
    See related
    Ensembl:ENSG00000114388 MIM:607072; AllianceGenome:HGNC:24969
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPR2; NPR2L; TUSC4; FFEVF2
    Summary
    Enables GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and negative regulation of kinase activity. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 2. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NPRL2 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50347330..50350775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50377054..50380498, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50384761..50388206, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Ras association domain family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50374977-50375548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19903 Neighboring gene RASSF1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50377372-50378195 and GRCh37_chr3:50378196-50379018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50380164-50380746 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50382474-50383024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50383025-50383575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19905 Neighboring gene CYB561D2-LOC101928965 Neighboring gene cytochrome b561 family member D2 Neighboring gene transmembrane protein 115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50396255-50397145

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GATOR1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GATOR1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of GATOR1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GATOR1 complex protein NPRL2
    Names
    2810446G01Rik
    G21 protein
    GATOR complex protein NPRL2
    NPR2-like protein
    gene 21 protein
    homologous to yeast nitrogen permease (candidate tumor suppressor)
    mutant NPRL2
    nitrogen permease regulator 2-like protein
    tumor suppressor candidate 4

    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_006545.5NP_006536.3  GATOR1 complex protein NPRL2

      See identical proteins and their annotated locations for NP_006536.3

      Status: VALIDATED

      Source sequence(s)
      AC002481, BC008802, BC056861
      Consensus CDS
      CCDS2826.1
      UniProtKB/Swiss-Prot
      A8K831, Q6FGS2, Q8WTW4, Q9Y249, Q9Y497
      Related
      ENSP00000232501.3, ENST00000232501.8
      Conserved Domains (1) summary
      cl24021
      Location:7370
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50347330..50350775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447310.1XP_047303266.1  GATOR1 complex protein NPRL2 isoform X1

    2. XM_011533288.4XP_011531590.1  GATOR1 complex protein NPRL2 isoform X2

      Related
      ENST00000479512.5
      Conserved Domains (1) summary
      cl24021
      Location:45367
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3
    3. XM_017005556.3XP_016861045.1  GATOR1 complex protein NPRL2 isoform X5

      Conserved Domains (1) summary
      cl24021
      Location:3250
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3
    4. XM_047447311.1XP_047303267.1  GATOR1 complex protein NPRL2 isoform X3

    5. XM_047447314.1XP_047303270.1  GATOR1 complex protein NPRL2 isoform X6

    6. XM_047447312.1XP_047303268.1  GATOR1 complex protein NPRL2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50377054..50380498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344961.1XP_054200936.1  GATOR1 complex protein NPRL2 isoform X1

    2. XM_054344962.1XP_054200937.1  GATOR1 complex protein NPRL2 isoform X2

    3. XM_054344963.1XP_054200938.1  GATOR1 complex protein NPRL2 isoform X3

    4. XM_054344965.1XP_054200940.1  GATOR1 complex protein NPRL2 isoform X6

    5. XM_054344964.1XP_054200939.1  GATOR1 complex protein NPRL2 isoform X4