LOCUS       NM_181569               2865 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus nitrogen permease regulator-like 3 (Nprl3), transcript
            variant 2, mRNA.
ACCESSION   NM_181569
VERSION     NM_181569.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2865)
  AUTHORS   Jiang,C., Dai,X., He,S., Zhou,H., Fang,L., Guo,J., Liu,S.,
            Zhang,T., Pan,W., Yu,H., Fu,T., Li,D., Inuzuka,H., Wang,P., Xiao,J.
            and Wei,W.
  TITLE     Ring domains are essential for GATOR2-dependent mTORC1 activation
  JOURNAL   Mol Cell 83 (1), 74-89 (2023)
   PUBMED   36528027
REFERENCE   2  (bases 1 to 2865)
  AUTHORS   Iffland,P.H., Everett,M.E., Cobb-Pitstick,K.M., Bowser,L.E.,
            Barnes,A.E., Babus,J.K., Romanowski,A.J., Baybis,M., Elziny,S.,
            Puffenberger,E.G., Gonzaga-Jauregui,C., Poulopoulos,A., Carson,V.J.
            and Crino,P.B.
  TITLE     NPRL3 loss alters neuronal morphology, mTOR localization, cortical
            lamination and seizure threshold
  JOURNAL   Brain 145 (11), 3872-3885 (2022)
   PUBMED   35136953
  REMARK    GeneRIF: NPRL3 loss alters neuronal morphology, mTOR localization,
            cortical lamination and seizure threshold.
REFERENCE   3  (bases 1 to 2865)
  AUTHORS   Ishida,S., Zhao,D., Sawada,Y., Hiraoka,Y., Mashimo,T. and Tanaka,K.
  TITLE     Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel
            mouse models for GATORopathy
  JOURNAL   Hum Mol Genet 31 (9), 1519-1530 (2022)
   PUBMED   34965576
  REMARK    GeneRIF: Dorsal telencephalon-specific Nprl2- and Nprl3-knockout
            mice: novel mouse models for GATORopathy.
REFERENCE   4  (bases 1 to 2865)
  AUTHORS   Haque,K., Pandey,A.K., Zheng,H.W., Riazuddin,S., Sha,S.H. and
            Puligilla,C.
  TITLE     MEKK4 Signaling Regulates Sensory Cell Development and Function in
            the Mouse Inner Ear
  JOURNAL   J Neurosci 36 (4), 1347-1361 (2016)
   PUBMED   26818521
REFERENCE   5  (bases 1 to 2865)
  AUTHORS   Kowalczyk,M.S., Hughes,J.R., Babbs,C., Sanchez-Pulido,L.,
            Szumska,D., Sharpe,J.A., Sloane-Stanley,J.A., Morriss-Kay,G.M.,
            Smoot,L.B., Roberts,A.E., Watkins,H., Bhattacharya,S.,
            Gibbons,R.J., Ponting,C.P., Wood,W.G. and Higgs,D.R.
  TITLE     Nprl3 is required for normal development of the cardiovascular
            system
  JOURNAL   Mamm Genome 23 (7-8), 404-415 (2012)
   PUBMED   22538705
REFERENCE   6  (bases 1 to 2865)
  AUTHORS   Kielman,M.F., Barradeau,S., Smits,R., Harteveld,C.L. and
            Bernini,L.F.
  TITLE     Characterization and localization of the mProx1 gene directly
            upstream of the mouse alpha-globin gene cluster: identification of
            a polymorphic direct repeat in the 5'UTR
  JOURNAL   Mamm Genome 7 (12), 877-880 (1996)
   PUBMED   8995756
REFERENCE   7  (bases 1 to 2865)
  AUTHORS   Zhao,Q.Z., Liang,X.L., Mitra,S., Gourdon,G. and Alter,B.P.
  TITLE     Cloning and characterization of the mouse alpha globin cluster and
            a new hypervariable marker
  JOURNAL   Mamm Genome 7 (10), 749-753 (1996)
   PUBMED   8854862
REFERENCE   8  (bases 1 to 2865)
  AUTHORS   Kielman,M.F., Smits,R., Hof,I. and Bernini,L.F.
  TITLE     Characterization and comparison of the human and mouse
            Dist1/alpha-globin complex reveals a tightly packed multiple gene
            cluster containing differentially expressed transcription units
  JOURNAL   Genomics 32 (3), 341-351 (1996)
   PUBMED   8838797
REFERENCE   9  (bases 1 to 2865)
  AUTHORS   Gourdon,G., Sharpe,J.A., Higgs,D.R. and Wood,W.G.
  TITLE     The mouse alpha-globin locus regulatory element
  JOURNAL   Blood 86 (2), 766-775 (1995)
   PUBMED   7606006
REFERENCE   10 (bases 1 to 2865)
  AUTHORS   Kaverina,N.V.
  TITLE     [Principles of modern drug therapy of ischemic heart disease]
  JOURNAL   Ter Arkh 49 (1), 22-30 (1977)
   PUBMED   17168
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC064471.1 and AK086378.1.
            
            On Sep 28, 2013 this sequence version replaced NM_181569.2.
            
            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.
            
            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 :: BC064471.1, AK081902.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164139 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2159              BC064471.1         1-2159
            2160-2865           AK086378.1         1973-2678
FEATURES             Location/Qualifiers
     source          1..2865
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 18.83 cM"
     gene            1..2865
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="nitrogen permease regulator-like 3"
                     /db_xref="GeneID:17168"
                     /db_xref="MGI:MGI:109258"
     exon            1..285
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1877
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     nitrogen permease regulator 3-like protein; alpha-globin
                     regulatory element-containing gene protein; proximal locus
                     to the hemoglobin alpha chain complex; -14; alpha globin
                     regulatory element containing; GATOR complex protein
                     NPRL3; GATOR1 complex protein NPRL3"
                     /codon_start=1
                     /product="GATOR1 complex protein NPRL3 isoform 2"
                     /protein_id="NP_853547.1"
                     /db_xref="CCDS:CCDS24521.1"
                     /db_xref="GeneID:17168"
                     /db_xref="MGI:MGI:109258"
                     /translation="MGDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTNKPRS
                     RYAVNNTGEHADDQDGDSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQH
                     ALGQVSKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRC
                     QYLTREAKLILALQDEVSAMADANEGPQSPFQHILPKCKLARDLKEAYDSLCTSGVVR
                     LHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLSELPI
                     DCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAVIIYPLCENNVY
                     VMSPNASVCLYSPLAEQFSRQFPSHDLPSVLAKFSLPVSLSEFRSPLAPPAQETQLIQ
                     MVVWMLQRRLLIQLHTYVCLMASPSEEEPRLREDDVPFTARVGGRSLSTPNALSFGSP
                     TSSDDMTLTSPSMDNSSAELLPSGDSPLNKRMTENLLASLSEHERAAILNVPAAQNPE
                     DLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQA
                     LLT"
     exon            286..355
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            356..485
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            486..560
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            561..714
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            715..796
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            797..934
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1091
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1198
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1328
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1518
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..1711
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..2865
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2140..2145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="hexamer: AATATA"
     polyA_site      2159
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="major polyA site"
     regulatory      2846..2851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="hexamer: ATTAAA"
     polyA_site      2865
                     /gene="Nprl3"
                     /gene_synonym="Aag; CGTHBA; HS-26; HS-40; m(alpha)RE;
                     Mare; Phg; Prox1"
                     /note="major polyA site"
ORIGIN      
        1 cgggcatgcg cgggggctgt ggagcgccgc tcggcgaagt ctcgcgagag tgagcgccga
       61 ggccgaggtg ccggcttcct ccgtgtccct gcgggcccgg cgcctgcctt cggcttttgc
      121 ggtccctacg cgagttcctc tcaggcgcac gcccgggctc ccgcaggatg ggggacaata
      181 ccagccccat cagcgtgatc ctggtgagct cgggcagcag gggcaataag ctgctcttca
      241 ggtacccctt ccagaggagc caggagcacc ccgcgtccca gacaaataaa ccacggagca
      301 gatatgctgt caacaacact ggcgaacatg ctgatgacca ggacggtgac tccaggttct
      361 cggatgttat tctggcaaca attttggcaa ccaaatctga aatgtgcggc caaaaatttg
      421 aactgaagat tgataatgta cggtttgttg ggcacccaac actgctgcag catgctctgg
      481 ggcaggtctc caaaacagat ccatctccaa agcgggaagc tccgaccatg attcttttta
      541 acgtggtatt tgcactgagg gccaatgctg atccatcagt gataaactgt ctacacaact
      601 tgtcccgccg aattgctact gtcctgcagc atgaggagcg ccgctgccag tacctcactc
      661 gagaggccaa gctgatccta gcacttcagg atgaggtgtc tgctatggct gatgcaaatg
      721 aaggtcctca gtccccattc cagcacatcc tacccaagtg caagctggct cgggacctca
      781 aagaagctta tgacagcctg tgcacatctg gtgtggtacg gcttcacatt aacagctggc
      841 tggaagtgag tttctgtctg ccccacaaga tccactatgc agcttcaagt ctgattcctc
      901 ctgaggctat tgaacggagc ctgaaagcca tccgcccgta ccatgccttg ctacttctca
      961 gtgacgagaa gtctctgctg agtgagcttc ccattgactg ctccccggct ctggtgcggg
     1021 tgatcaagac cacgtctgct gtgaagaacc tgcagcagct agcccaggat gccgatctgg
     1081 ccttgctgca ggtcttccag ttggcagctc acctggtata ctggggcaag gctgtcatca
     1141 tctacccact gtgtgagaac aacgtctatg tcatgtctcc caatgccagt gtgtgtctgt
     1201 actccccgct agctgaacag ttctcccggc agttcccgtc ccatgacctg ccatctgtcc
     1261 tggccaagtt ttccttgcct gtttctttat cggagttcag gagccctctg gctccccctg
     1321 cacaggagac ccagctcatc cagatggtgg tgtggatgct gcagcgccgg ctcctcatcc
     1381 agctgcatac ctatgtttgc ctaatggcct cacccagcga agaggagccc cgactgcgag
     1441 aggatgatgt ccccttcaca gccagagttg gtggccgcag cctcagcaca cccaatgctc
     1501 taagctttgg ctccccaacc agcagtgacg acatgaccct taccagcccc agtatggaca
     1561 actcaagtgc tgagctgctc cccagtgggg actcaccact gaacaagagg atgacagaga
     1621 acctgctggc tagcctctca gagcatgagc gggctgctat cctcaatgtg cctgcagccc
     1681 aaaaccctga ggacctccgc atgtttgcca ggctccttca ctacttccgt ggccgccacc
     1741 atctggagga gatcatgtac aatgagaaca ctcggcgctc ccagctactc atgctctttg
     1801 acaaattccg cagtgtgctg gtggtgacca cccatgagga ccctgttatt gccgtcttcc
     1861 aggcactgct cacatgagcc cgggcagcat gcctgtgtgt ggatggaaac aacctccctt
     1921 ctgccgcaga gttcctgact ggccttagga agataggcag ccccagcccg gtcggtctgg
     1981 tcagaagcag ctatggggca gccatggttg ggctttgtga ttctcttgag acctcacact
     2041 tgccttgtag ttaaggatga ccttgaactc ctgatcctcc tgcctctgtc ctccaagtgc
     2101 tatgattaca cacgcgtgcc atcaatgtca cttgtaaaaa atatatttat ttttatttat
     2161 ggttttgtgt gtatgtgtgc cctcagaggt cagaagaaag catgccttgg agctagagtt
     2221 acagaggttg tgagccattg ggtgtggggc tgggaacagc agaagagcag gaagcactgt
     2281 taaccattgc tctctcctac ccaccagcct ccctcttcaa tctggtcctt acggcagctt
     2341 aatattgctg agctggagaa ggtcttccag gatgtgactt ttttttttaa agatgtattt
     2401 atttaacgta tgtgagtata ctgttgctgt cttcagacac cagaagaggg cattacatgc
     2461 caccatgtgg ttggtgggaa ttgaactcag gacctctggt taagagcagg aagtgctctt
     2521 aaccacctag ccatctctcc agcccccagg atgtgtcttc agagtccaag tcctttcttt
     2581 atacacatac aggttatgtc cttgtcatcc ctttccggcc ggtcccttgt ggagctgccc
     2641 tggaaagtgt ctaaacacac ctgttcagct cattctgttc ctaggtgtat acacctgcac
     2701 gttgatgttt ttcctctctg ttgccataca tactgggtaa cccagtttcc tgacccggat
     2761 aaagaattaa ctgcatgaac acaaattctg gctgagactt ggggacagtt ctctaaaaac
     2821 gggatattta ttttactttt gaacaattaa aagcccctca gagca
//
