LOCUS       NM_001077350            3128 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NPR3 like, GATOR1 complex subunit (NPRL3), transcript
            variant 1, mRNA.
ACCESSION   NM_001077350
VERSION     NM_001077350.3
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 3128)
  AUTHORS   Yang,D., Wang,J., Qin,Z., Feng,J., Mao,C., Chen,Y., Huang,X. and
            Ruan,Y.
  TITLE     Phenotypic and genotypic characterization of NPRL3-related
            epilepsy: Two case reports and literature review
  JOURNAL   Epilepsia Open 9 (1), 33-40 (2024)
   PUBMED   37902097
  REMARK    GeneRIF: Phenotypic and genotypic characterization of NPRL3-related
            epilepsy: Two case reports and literature review.
            Review article
REFERENCE   2  (bases 1 to 3128)
  AUTHORS   Dainelli,A., Iacomino,M., Rossato,S., Bugin,S., Traverso,M.,
            Severino,M., Gustincich,S., Capra,V., Di Duca,M., Zara,F., Scala,M.
            and Striano,P.
  TITLE     Refining the electroclinical spectrum of NPRL3-related epilepsy: A
            novel multiplex family and literature review
  JOURNAL   Epilepsia Open 8 (4), 1314-1330 (2023)
   PUBMED   37491868
  REMARK    GeneRIF: Refining the electroclinical spectrum of NPRL3-related
            epilepsy: A novel multiplex family and literature review.
            Review article
REFERENCE   3  (bases 1 to 3128)
  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   4  (bases 1 to 3128)
  AUTHORS   Du,S., Zeng,S., Song,L., Ma,H., Chen,R., Luo,J., Wang,X., Ma,T.,
            Xu,X., Sun,H., Yi,P., Guo,J., Huang,Y., Liu,M., Wang,T., Liao,W.P.,
            Zhang,L., Liu,J.Y. and Tang,B.
  TITLE     Functional characterization of novel NPRL3 mutations identified in
            three families with focal epilepsy
  JOURNAL   Sci China Life Sci 66 (9), 2152-2166 (2023)
   PUBMED   37071290
  REMARK    GeneRIF: Functional characterization of novel NPRL3 mutations
            identified in three families with focal epilepsy.
REFERENCE   5  (bases 1 to 3128)
  AUTHORS   Wang,Y., Yu,P., Zhu,G., Wu,X., Ding,D. and Hong,Z.
  TITLE     The clinical features of familial focal epilepsy with variable foci
            and NPRL3 gene variant
  JOURNAL   PLoS One 18 (4), e0284924 (2023)
   PUBMED   37099548
  REMARK    GeneRIF: The clinical features of familial focal epilepsy with
            variable foci and NPRL3 gene variant.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3128)
  AUTHORS   Neklesa,T.K. and Davis,R.W.
  TITLE     A genome-wide screen for regulators of TORC1 in response to amino
            acid starvation reveals a conserved Npr2/3 complex
  JOURNAL   PLoS Genet 5 (6), e1000515 (2009)
   PUBMED   19521502
REFERENCE   7  (bases 1 to 3128)
  AUTHORS   De Gobbi,M., Viprakasit,V., Hughes,J.R., Fisher,C., Buckle,V.J.,
            Ayyub,H., Gibbons,R.J., Vernimmen,D., Yoshinaga,Y., de Jong,P.,
            Cheng,J.F., Rubin,E.M., Wood,W.G., Bowden,D. and Higgs,D.R.
  TITLE     A regulatory SNP causes a human genetic disease by creating a new
            transcriptional promoter
  JOURNAL   Science 312 (5777), 1215-1217 (2006)
   PUBMED   16728641
REFERENCE   8  (bases 1 to 3128)
  AUTHORS   Martin,J., Han,C., Gordon,L.A., Terry,A., Prabhakar,S., She,X.,
            Xie,G., Hellsten,U., Chan,Y.M., Altherr,M., Couronne,O., Aerts,A.,
            Bajorek,E., Black,S., Blumer,H., Branscomb,E., Brown,N.C.,
            Bruno,W.J., Buckingham,J.M., Callen,D.F., Campbell,C.S.,
            Campbell,M.L., Campbell,E.W., Caoile,C., Challacombe,J.F.,
            Chasteen,L.A., Chertkov,O., Chi,H.C., Christensen,M., Clark,L.M.,
            Cohn,J.D., Denys,M., Detter,J.C., Dickson,M.,
            Dimitrijevic-Bussod,M., Escobar,J., Fawcett,J.J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Goodwin,L.A., Grady,D.L., Grigoriev,I., Groza,M., Hammon,N.,
            Hawkins,T., Haydu,L., Hildebrand,C.E., Huang,W., Israni,S.,
            Jett,J., Jewett,P.B., Kadner,K., Kimball,H., Kobayashi,A.,
            Krawczyk,M.C., Leyba,T., Longmire,J.L., Lopez,F., Lou,Y., Lowry,S.,
            Ludeman,T., Manohar,C.F., Mark,G.A., McMurray,K.L., Meincke,L.J.,
            Morgan,J., Moyzis,R.K., Mundt,M.O., Munk,A.C., Nandkeshwar,R.D.,
            Pitluck,S., Pollard,M., Predki,P., Parson-Quintana,B., Ramirez,L.,
            Rash,S., Retterer,J., Ricke,D.O., Robinson,D.L., Rodriguez,A.,
            Salamov,A., Saunders,E.H., Scott,D., Shough,T., Stallings,R.L.,
            Stalvey,M., Sutherland,R.D., Tapia,R., Tesmer,J.G., Thayer,N.,
            Thompson,L.S., Tice,H., Torney,D.C., Tran-Gyamfi,M., Tsai,M.,
            Ulanovsky,L.E., Ustaszewska,A., Vo,N., White,P.S., Williams,A.L.,
            Wills,P.L., Wu,J.R., Wu,K., Yang,J., Dejong,P., Bruce,D.,
            Doggett,N.A., Deaven,L., Schmutz,J., Grimwood,J., Richardson,P.,
            Rokhsar,D.S., Eichler,E.E., Gilna,P., Lucas,S.M., Myers,R.M.,
            Rubin,E.M. and Pennacchio,L.A.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   9  (bases 1 to 3128)
  AUTHORS   Vyas,P., Vickers,M.A., Picketts,D.J. and Higgs,D.R.
  TITLE     Conservation of position and sequence of a novel, widely expressed
            gene containing the major human alpha-globin regulatory element
  JOURNAL   Genomics 29 (3), 679-689 (1995)
   PUBMED   8575760
REFERENCE   10 (bases 1 to 3128)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z69666.1, DA258664.1,
            AK090717.1 and Z69720.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001077350.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            CDS exon combination :: SRR1803611.75559.1, SRR1660803.100275.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000611875.5/ ENSP00000478273.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 Z69666.1           13369-13369         c
            2-574               DA258664.1         1-573
            575-2036            AK090717.1         672-2133
            2037-3128           Z69720.1           14426-15517         c
FEATURES             Location/Qualifiers
     source          1..3128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3128
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /note="NPR3 like, GATOR1 complex subunit"
                     /db_xref="GeneID:8131"
                     /db_xref="HGNC:HGNC:14124"
                     /db_xref="MIM:600928"
     exon            1..32
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            33..217
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1809
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     conserved gene telomeric to alpha globin cluster; -14 gene
                     protein; alpha-globin regulatory element-containing gene
                     protein; GATOR complex protein NPRL3; GATOR1 complex
                     protein NPRL3"
                     /codon_start=1
                     /product="GATOR1 complex protein NPRL3 isoform 1"
                     /protein_id="NP_001070818.1"
                     /db_xref="CCDS:CCDS73795.1"
                     /db_xref="GeneID:8131"
                     /db_xref="HGNC:HGNC:14124"
                     /db_xref="MIM:600928"
                     /translation="MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRS
                     RYAASNTGDHADEQDGDSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQH
                     ALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRC
                     QYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVR
                     LHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPI
                     DCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVY
                     MLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQ
                     MVVWMLQRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSP
                     TSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQNPE
                     DLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQA
                     LLP"
     exon            218..287
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            288..417
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            418..492
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            493..646
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            647..728
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            729..866
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1023
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1130
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1260
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1450
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1643
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..3128
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /note="hexamer: AATAAA"
     regulatory      2705..2710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /note="hexamer: ATTAAA"
     polyA_site      2713
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
                     /note="major polyA site"
     polyA_site      2726
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE;
                     NPR3; RMD11"
ORIGIN      
        1 gaagtctcgc gagcccggag cgtggcacgt gggccccctc cgcctccggc tccgtcctcc
       61 tctggccccc tccgcccccg gccccggccc cacggcggga tgcgggacaa caccagcccc
      121 atcagcgtga ttctggtgag ctcggggagc aggggcaata agctgctgtt caggtacccc
      181 ttccagagaa gccaggagca cccggcgtcc cagacaagta agccgcgtag cagatacgct
      241 gccagcaaca cgggcgacca tgctgatgag caggacggcg attccaggtt ttcagatgtt
      301 attctggcaa caattttggc aaccaagtct gaaatgtgtg gccaaaaatt tgaactgaag
      361 attgataatg tgcgatttgt tgggcaccca acactgctac agcatgctct ggggcagatc
      421 tccaaaacag atccttcccc gaagagggaa gcacctacta tgattctttt taatgtggtg
      481 tttgcactga gggccaacgc agacccgtca gtgataaact gtctgcataa cctgtcccgt
      541 cgtatcgcca ccgtgctgca gcacgaggag cgccgctgcc agtacctcac ccgggaggcc
      601 aagctgatcc tggcgctcca ggatgaggtg tccgccatgg ctgatggaaa tgaaggtcct
      661 cagtccccat tccatcacat cctgcccaag tgcaagctgg ccagggacct caaggaagct
      721 tatgacagcc tgtgcacgtc gggcgtagtt cggcttcaca tcaacagctg gctggaggtg
      781 agcttctgcc tgccccacaa gatccactat gcggcctcca gtctgatccc cccagaggcc
      841 atcgaacgga gcctgaaagc catccgcccc taccatgccc tgctgctgct cagtgatgag
      901 aagtccttgc tgggtgagct tcctattgac tgctcccctg ccctagtgcg ggtgatcaag
      961 accacatctg ctgtgaagaa cctgcagcag ctagcccaag atgcggacct ggccttgctg
     1021 caggttttcc agcttgcagc tcatctggtg tactggggca aggccatcat catctacccg
     1081 ctgtgtgaga acaacgtcta catgctgtct cccaatgcca gcgtatgtct gtactccccg
     1141 ctggccgagc agttctccca ccagttccca tctcatgacc tgccgtccgt tcttgccaag
     1201 ttctccttgc cggtctcctt gtcagaattt aggaatcccc tggcccccgc tgtgcaggag
     1261 acccagctca tccagatggt ggtgtggatg ctgcagcgcc ggcttctcat ccagctgcac
     1321 acctatgtct gcctgatggc ctcacccagc gaggaggagc cccgtccgcg agaggacgac
     1381 gtccccttca ctgcccgggt cggcggtcgc agcctcagca cgcccaacgc cctcagcttt
     1441 ggctccccaa ccagcagcga tgacatgacc ctcaccagcc ccagcatgga caactccagc
     1501 gcagagctac ttcccagcgg ggactcgcca ctgaaccaga ggatgacgga gaacctgctg
     1561 gccagcctgt cggagcatga acgcgcagcc atcctcagtg tacccgcagc ccagaaccct
     1621 gaggacctcc gcatgtttgc caggctcctt cactacttcc gcggccgcca ccacctggag
     1681 gagattatgt acaacgagaa cacgcggcgc tcccagctgc tcatgctgtt tgacaagttc
     1741 cgcagcgtgc tggtggtgac cacccacgag gaccctgtca ttgccgtctt ccaggctctg
     1801 ctcccctgag cccaggcgga gggcggaagg ctgctggggt gcgcaggtgg gcgctcgcgt
     1861 ctccccaccc cagggctccc cccgtgctga ggctgagccc tcttggccct gaggcctggc
     1921 attgggtgga tgcgggctgg ccgtggccca gtgaagcctg cagagccccg ctgtccttgc
     1981 ccctggtggt tccgctgtgg ggctgctgcc ctctgtgttc ctacgcttcc ctccagtcct
     2041 tgccgcacgc gtaggcatct ccacgctgga ggggggcctg ccaggactcc tgtctctggg
     2101 tgaggccgca tccttcaagg cccatgtggg ctgtgcgttt ctcagaccct ccttctgtcc
     2161 ctacacctgc tccttggacc ccccagtctg tggccaccct gaagaatgtg cagaaacact
     2221 tgtgtggcct gtccctgtct ctctgacagc cttctatttg tgaagtgccc tgtggccccc
     2281 tccccagcac ctctgtctgc catgcgcttc ttcctcccag gctaccctga gcctttcctg
     2341 gcccagtcct caccacagtc cacagaagcc gcaaacaggc tcatagccaa gctgtgacct
     2401 ggtcctgacc atctggggca cgagggcctg ggctggccct gctaggctgg agaagccctg
     2461 tcacctgtgc acatcttgct ggtggaggca tggcccactg tgcaggaccc caccctcggg
     2521 ggctttcggc tcccacactg atgattctcc ccagcatcca caccgggcct ggcgctacgt
     2581 actcaggccc ccagctctcg tgtcctggag gaagagctag ctccagacat gggttgatca
     2641 cctagaggag ctctggctaa ggcacagttt tctagaaata aaacatttat tcggttttta
     2701 aacaattaaa aaatcttgtc tgggcaggcc ctttgctcag gcctgtgtgt cctgctcagc
     2761 cactctgtcg accacactga cccaggggct gccccggaca tagaagcgga ggggtttccg
     2821 ggcccactcc cctgcatggc cgacgcccac ccgggctgct gccactacag ccggctcact
     2881 gggctccagg ggaccacgct ccagccatac agcttcatcc tgtgccaggt ccctctggtc
     2941 aaagctcttg ttgatggcca gggcctggca cagcttggag gggccactgc agagctcgcg
     3001 gtccttgagg acacggctgg cggtgccttt ccggagggtg ctgcgaagct gacgcatggt
     3061 ctccagacct tccaggggct ccagtgctcg cagcaagacg caagccccgt cccctgtggg
     3121 acggacag
//
