LOCUS       NM_006545               1542 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NPR2 like, GATOR1 complex subunit (NPRL2), mRNA.
ACCESSION   NM_006545
VERSION     NM_006545.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1542)
  AUTHORS   Wang,H., Liu,W., Zhang,Y., Liu,Q., Cai,L. and Jiang,Y.
  TITLE     Seizure features and outcomes in 50 children with GATOR1 variants:
            A retrospective study, more favorable for epilepsy surgery
  JOURNAL   Epilepsia Open 8 (3), 969-979 (2023)
   PUBMED   37259768
  REMARK    GeneRIF: Seizure features and outcomes in 50 children with GATOR1
            variants: A retrospective study, more favorable for epilepsy
            surgery.
            Review article
REFERENCE   2  (bases 1 to 1542)
  AUTHORS   Du,X., Zhao,Z., Zhao,X., Wang,H., Jiang,L. and Tang,W.
  TITLE     Risk signature identification and NPRL2 affects sunitinib
            sensitivity in clear cell renal cell carcinoma
  JOURNAL   Biochem Biophys Res Commun 663, 122-131 (2023)
   PUBMED   37121122
  REMARK    GeneRIF: Risk signature identification and NPRL2 affects sunitinib
            sensitivity in clear cell renal cell carcinoma.
REFERENCE   3  (bases 1 to 1542)
  AUTHORS   Wang,Y.C., Tsai,M.C., Chen,Y.S., Hsieh,P.M., Hung,C.M., Lin,H.Y.,
            Hsu,Y.C., Yeh,J.H., Hsiao,P., Su,Y.C., Ma,C.H., Lee,C.Y., Lin,C.C.,
            Shu,C.W., Li,Y.C., Tsai,M.H., Lin,J.Y., Peng,W.H., Yu,M.L. and
            Lin,C.W.
  TITLE     NPRL2 down-regulation facilitates the growth of hepatocellular
            carcinoma via the mTOR pathway and autophagy suppression
  JOURNAL   Hepatol Commun 6 (12), 3563-3577 (2022)
   PUBMED   36321403
  REMARK    GeneRIF: NPRL2 down-regulation facilitates the growth of
            hepatocellular carcinoma via the mTOR pathway and autophagy
            suppression.
REFERENCE   4  (bases 1 to 1542)
  AUTHORS   Zhou,X., Chen,F.Y., Ye,X.G. and Liu,Z.G.
  TITLE     Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation
            causes Ohtahara syndrome with incomplete penetrance: expanding the
            genotype-phenotype correlations
  JOURNAL   Clin Dysmorphol 31 (4), 181-184 (2022)
   PUBMED   35731010
  REMARK    GeneRIF: Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating
            mutation causes Ohtahara syndrome with incomplete penetrance:
            expanding the genotype-phenotype correlations.
REFERENCE   5  (bases 1 to 1542)
  AUTHORS   Egri,S.B., Ouch,C., Chou,H.T., Yu,Z., Song,K., Xu,C. and Shen,K.
  TITLE     Cryo-EM structures of the human GATOR1-Rag-Ragulator complex reveal
            a spatial-constraint regulated GAP mechanism
  JOURNAL   Mol Cell 82 (10), 1836-1849 (2022)
   PUBMED   35338845
REFERENCE   6  (bases 1 to 1542)
  AUTHORS   Muzny,D.M., Scherer,S.E., Kaul,R., Wang,J., Yu,J., Sudbrak,R.,
            Buhay,C.J., Chen,R., Cree,A., Ding,Y., Dugan-Rocha,S., Gill,R.,
            Gunaratne,P., Harris,R.A., Hawes,A.C., Hernandez,J., Hodgson,A.V.,
            Hume,J., Jackson,A., Khan,Z.M., Kovar-Smith,C., Lewis,L.R.,
            Lozado,R.J., Metzker,M.L., Milosavljevic,A., Miner,G.R.,
            Morgan,M.B., Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z.,
            Steffen,D., Wei,S., Wheeler,D.A., Wright,M.W., Worley,K.C.,
            Yuan,Y., Zhang,Z., Adams,C.Q., Ansari-Lari,M.A., Ayele,M.,
            Brown,M.J., Chen,G., Chen,Z., Clendenning,J.,
            Clerc-Blankenburg,K.P., Chen,R., Chen,Z., Davis,C., Delgado,O.,
            Dinh,H.H., Dong,W., Draper,H., Ernst,S., Fu,G.,
            Gonzalez-Garay,M.L., Garcia,D.K., Gillett,W., Gu,J., Hao,B.,
            Haugen,E., Havlak,P., He,X., Hennig,S., Hu,S., Huang,W.,
            Jackson,L.R., Jacob,L.S., Kelly,S.H., Kube,M., Levy,R., Li,Z.,
            Liu,B., Liu,J., Liu,W., Lu,J., Maheshwari,M., Nguyen,B.V.,
            Okwuonu,G.O., Palmeiri,A., Pasternak,S., Perez,L.M., Phelps,K.A.,
            Plopper,F.J., Qiang,B., Raymond,C., Rodriguez,R.,
            Saenphimmachak,C., Santibanez,J., Shen,H., Shen,Y., Subramanian,S.,
            Tabor,P.E., Verduzco,D., Waldron,L., Wang,J., Wang,J., Wang,Q.,
            Williams,G.A., Wong,G.K., Yao,Z., Zhang,J., Zhang,X., Zhao,G.,
            Zhou,J., Zhou,Y., Nelson,D., Lehrach,H., Reinhardt,R., Naylor,S.L.,
            Yang,H., Olson,M., Weinstock,G. and Gibbs,R.A.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
REFERENCE   7  (bases 1 to 1542)
  AUTHORS   Li,J., Wang,F., Haraldson,K., Protopopov,A., Duh,F.M., Geil,L.,
            Kuzmin,I., Minna,J.D., Stanbridge,E., Braga,E., Kashuba,V.I.,
            Klein,G., Lerman,M.I. and Zabarovsky,E.R.
  TITLE     Functional characterization of the candidate tumor suppressor gene
            NPRL2/G21 located in 3p21.3C
  JOURNAL   Cancer Res 64 (18), 6438-6443 (2004)
   PUBMED   15374952
  REMARK    GeneRIF: NPRL2 is a multiple tumor suppressor gene.
REFERENCE   8  (bases 1 to 1542)
  AUTHORS   Ji,L., Nishizaki,M., Gao,B., Burbee,D., Kondo,M., Kamibayashi,C.,
            Xu,K., Yen,N., Atkinson,E.N., Fang,B., Lerman,M.I., Roth,J.A. and
            Minna,J.D.
  TITLE     Expression of several genes in the human chromosome 3p21.3
            homozygous deletion region by an adenovirus vector results in tumor
            suppressor activities in vitro and in vivo
  JOURNAL   Cancer Res 62 (9), 2715-2720 (2002)
   PUBMED   11980673
REFERENCE   9  (bases 1 to 1542)
  AUTHORS   Lerman,M.I. and Minna,J.D.
  TITLE     The 630-kb lung cancer homozygous deletion region on human
            chromosome 3p21.3: identification and evaluation of the resident
            candidate tumor suppressor genes. The International Lung Cancer
            Chromosome 3p21.3 Tumor Suppressor Gene Consortium
  JOURNAL   Cancer Res 60 (21), 6116-6133 (2000)
   PUBMED   11085536
REFERENCE   10 (bases 1 to 1542)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008802.2, BC056861.1 and AC002481.1.
            
            On May 17, 2019 this sequence version replaced NM_006545.4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056861.1, AF040707.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232501.8/ ENSP00000232501.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-330               BC008802.2         281-610
            331-1384            BC056861.1         309-1362
            1385-1542           AC002481.1         11404-11561
FEATURES             Location/Qualifiers
     source          1..1542
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1542
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /note="NPR2 like, GATOR1 complex subunit"
                     /db_xref="GeneID:10641"
                     /db_xref="HGNC:HGNC:24969"
                     /db_xref="MIM:607072"
     exon            1..201
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..1266
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /note="tumor suppressor candidate 4; 2810446G01Rik;
                     nitrogen permease regulator 2-like protein; homologous to
                     yeast nitrogen permease (candidate tumor suppressor); G21
                     protein; gene 21 protein; NPR2-like protein; GATOR complex
                     protein NPRL2; mutant NPRL2"
                     /codon_start=1
                     /product="GATOR1 complex protein NPRL2"
                     /protein_id="NP_006536.3"
                     /db_xref="CCDS:CCDS2826.1"
                     /db_xref="GeneID:10641"
                     /db_xref="HGNC:HGNC:24969"
                     /db_xref="MIM:607072"
                     /translation="MGSGCRIECIFFSEFHPTLGPKITYQVPEDFISRELFDTVQVYI
                     ITKPELQNKLITVTAMEKKLIGCPVCIEHKKYSRNALLFNLGFVCDAQAKTCALEPIV
                     KKLAGYLTTLELESSFVSMEESKQKLVPIMTILLEELNASGRCTLPIDESNTIHLKVI
                     EQRPDPPVAQEYDVPVFTKDKEDFFNSQWDLTTQQILPYIDGFRHIQKISAEADVELN
                     LVRIAIQNLLYYGVVTLVSILQYSNVYCPTPKVQDLVDDKSLQEACLSYVTKQGHKRA
                     SLRDVFQLYCSLSPGTTVRDLIGRHPQQLQHVDERKLIQFGLMKNLIRRLQKYPVRVT
                     REEQSHPARLYTGCHSYDEICCKTGMSYHELDERLENDPNIIICWK"
     exon            202..293
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            294..462
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            463..571
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            572..708
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            709..806
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            807..843
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            844..937
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1055
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1198
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1542
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1360..1365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /note="hexamer: AATAAA"
     polyA_site      1384
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /note="major polyA site"
ORIGIN      
        1 attggcaagc ttgcgtgccc cagcgacaca ggcctcgagg ctgtctctga caagtgttca
       61 caggaggtgg ggacgcctct gcgcgaggaa cgaggagcta cgggcctggg cccggttatt
      121 gccatgggca gcggctgccg catcgaatgc atattcttca gcgagttcca ccccacgctg
      181 ggacccaaga tcacctatca ggtccctgaa gacttcatct cccgagagct gtttgacaca
      241 gtccaagtgt acatcatcac caagccagag ctgcagaaca agcttatcac tgtcacagct
      301 atggaaaaga agctgatcgg ctgtcctgtg tgcatcgaac acaagaagta cagccgcaat
      361 gctctcctct tcaacctggg cttcgtgtgt gatgcccagg ccaagacctg cgccctcgag
      421 cccattgtta aaaagctggc tggctatctg accacactag agctagagag cagcttcgtg
      481 tccatggagg agagcaagca gaagttggtg cccatcatga ccatcttgct ggaggagcta
      541 aatgcctcag gccggtgcac tctgcccatt gatgagtcca acaccatcca cttgaaggtg
      601 attgagcagc ggccagaccc tccggtggcc caggagtatg atgtacctgt ctttaccaaa
      661 gacaaggagg atttcttcaa ctcacagtgg gacctcacta cacaacaaat cctgccctac
      721 attgatgggt tccgccacat ccagaagatt tcagcagagg cagatgtgga gctcaacctg
      781 gtgcgcattg ctatccagaa cctgctgtac tacggcgttg tgacactggt gtccatcctc
      841 cagtactcca atgtatactg cccaacgccc aaggtccagg acctggtaga tgacaagtcc
      901 ctgcaagagg catgtctatc ctacgtgacc aagcaagggc acaagagggc cagtctccgg
      961 gatgtgttcc agctatactg cagcctgagc cctggcacta ccgtgcgaga cctcattggc
     1021 cgccaccccc agcagctgca gcatgttgat gaacggaagc tgatccagtt cgggcttatg
     1081 aagaacctca tcaggcgact acagaagtat cctgtgcggg tgactcggga agagcagagc
     1141 caccctgccc ggctttatac aggctgccac agctatgacg agatctgctg caagacaggc
     1201 atgagctacc atgagctgga tgagcggctt gaaaatgacc ccaacatcat catctgctgg
     1261 aagtgaggct ggtagtgact ggatggacac attgctgtgg gtagtccctc ctactaggag
     1321 gcttgtcata ctgtctagag gttgactctt agttctgtaa ataaagacat ccatttcaaa
     1381 cagcctttat tgagtgctgt ttctgggcca gccgtgggag acccagcagt gaatgaaata
     1441 gccacgagcc gtgggctaga tcgccatctg gtgggcagga ccgacaatcg acaaataaaa
     1501 gtgccggtta attacaaaaa aaaaaaaaaa aaaaaaaaaa aa
//
