LOCUS       NM_022157               2681 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens Ras related GTP binding C (RRAGC), transcript variant
            1, mRNA.
ACCESSION   NM_022157
VERSION     NM_022157.4
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 2681)
  AUTHORS   Reijnders,M.R.F., Seibt,A., Brugger,M., Lamers,I.J.C., Ott,T.,
            Klaas,O., Horvath,J., Rose,A.M.S., Craghill,I.M., Brunet,T.,
            Graf,E., Mayerhanser,K., Hellebrekers,D., Pauck,D., Neuen-Jacob,E.,
            Rodenburg,R.J.T., Wieczorek,D., Klee,D., Mayatepek,E., Driessen,G.,
            Bindermann,R., Averdunk,L., Lohmeier,K., Sinnema,M.,
            Stegmann,A.P.A., Roepman,R., Poulter,J.A. and Distelmaier,F.
  TITLE     De novo missense variants in RRAGC lead to a fatal mTORopathy of
            early childhood
  JOURNAL   Genet Med 25 (7), 100838 (2023)
   PUBMED   37057673
  REMARK    GeneRIF: De novo missense variants in RRAGC lead to a fatal
            mTORopathy of early childhood.
REFERENCE   2  (bases 1 to 2681)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2681)
  AUTHORS   Cui,Z., Napolitano,G., de Araujo,M.E.G., Esposito,A.,
            Monfregola,J., Huber,L.A., Ballabio,A. and Hurley,J.H.
  TITLE     Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex
  JOURNAL   Nature 614 (7948), 572-579 (2023)
   PUBMED   36697823
  REMARK    GeneRIF: Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator
            megacomplex.
REFERENCE   4  (bases 1 to 2681)
  AUTHORS   Nardone,C., Palanski,B.A., Scott,D.C., Timms,R.T., Barber,K.W.,
            Gu,X., Mao,A., Leng,Y., Watson,E.V., Schulman,B.A., Cole,P.A. and
            Elledge,S.J.
  TITLE     A central role for regulated protein stability in the control of
            TFE3 and MITF by nutrients
  JOURNAL   Mol Cell 83 (1), 57-73 (2023)
   PUBMED   36608670
REFERENCE   5  (bases 1 to 2681)
  AUTHORS   Jansen,R.M., Peruzzo,R., Fromm,S.A., Yokom,A.L., Zoncu,R. and
            Hurley,J.H.
  TITLE     Structural basis for FLCN RagC GAP activation in MiT-TFE
            substrate-selective mTORC1 regulation
  JOURNAL   Sci Adv 8 (37), eadd2926 (2022)
   PUBMED   36103527
REFERENCE   6  (bases 1 to 2681)
  AUTHORS   Sancak,Y., Peterson,T.R., Shaul,Y.D., Lindquist,R.A., Thoreen,C.C.,
            Bar-Peled,L. and Sabatini,D.M.
  TITLE     The Rag GTPases bind raptor and mediate amino acid signaling to
            mTORC1
  JOURNAL   Science 320 (5882), 1496-1501 (2008)
   PUBMED   18497260
REFERENCE   7  (bases 1 to 2681)
  AUTHORS   Suhr,M.L., Dysvik,B., Bruland,O., Warnakulasuriya,S.,
            Amaratunga,A.N., Jonassen,I., Vasstrand,E.N. and Ibrahim,S.O.
  TITLE     Gene expression profile of oral squamous cell carcinomas from Sri
            Lankan betel quid users
  JOURNAL   Oncol Rep 18 (5), 1061-1075 (2007)
   PUBMED   17914555
REFERENCE   8  (bases 1 to 2681)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 2681)
  AUTHORS   Sekiguchi,T., Todaka,Y., Wang,Y., Hirose,E., Nakashima,N. and
            Nishimoto,T.
  TITLE     A novel human nucleolar protein, Nop132, binds to the G proteins,
            RRAG A/C/D
  JOURNAL   J Biol Chem 279 (9), 8343-8350 (2004)
   PUBMED   14660641
REFERENCE   10 (bases 1 to 2681)
  AUTHORS   Sekiguchi,T., Hirose,E., Nakashima,N., Ii,M. and Nishimoto,T.
  TITLE     Novel G proteins, Rag C and Rag D, interact with GTP-binding
            proteins, Rag A and Rag B
  JOURNAL   J Biol Chem 276 (10), 7246-7257 (2001)
   PUBMED   11073942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI461665.1, AK315791.1,
            BC016668.1, CA449149.1, CX761032.1, CB132041.1, HY264464.1,
            HY202961.1 and BQ003663.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022157.3.
            
            Summary: This gene encodes a member of the GTR/RAG GTP-binding
            protein family. The encoded protein is a monomeric guanine
            nucleotide-binding protein which forms a heterodimer with RRAGA and
            RRAGB and is primarily localized to the cytoplasm. The encoded
            protein promotes intracellular localization of the mTOR complex.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR3476690.1000533.1,
                                           SRR1803613.61984.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373001.4/ ENSP00000362092.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                BI461665.1         5-28
            25-818              AK315791.1         1-794
            819-1546            BC016668.1         715-1442
            1547-1548           CA449149.1         1-2                 c
            1549-1772           CX761032.1         511-734
            1773-2224           CB132041.1         147-598
            2225-2286           HY264464.1         2-63                c
            2287-2677           HY202961.1         1-391               c
            2678-2681           BQ003663.1         15-18               c
FEATURES             Location/Qualifiers
     source          1..2681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..2681
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /note="Ras related GTP binding C"
                     /db_xref="GeneID:64121"
                     /db_xref="HGNC:HGNC:19902"
                     /db_xref="MIM:608267"
     exon            1..363
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1326
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /note="isoform 1 is encoded by transcript variant 1; Rag C
                     protein; ras-related GTP-binding protein C;
                     GTPase-interacting protein 2"
                     /codon_start=1
                     /product="ras-related GTP-binding protein C isoform 1"
                     /protein_id="NP_071440.1"
                     /db_xref="CCDS:CCDS430.1"
                     /db_xref="GeneID:64121"
                     /db_xref="HGNC:HGNC:19902"
                     /db_xref="MIM:608267"
                     /translation="MSLQYGAEETPLAGSYGAADSFPKDFGYGVEEEEEEAAAAGGGV
                     GAGAGGGCGPGGADSSKPRILLMGLRRSGKSSIQKVVFHKMSPNETLFLESTNKIYKD
                     DISNSSFVNFQIWDFPGQMDFFDPTFDYEMIFRGTGALIYVIDAQDDYMEALTRLHIT
                     VSKAYKVNPDMNFEVFIHKVDGLSDDHKIETQRDIHQRANDDLADAGLEKLHLSFYLT
                     SIYDHSIFEAFSKVVQKLIPQLPTLENLLNIFISNSGIEKAFLFDVVSKIYIATDSSP
                     VDMQSYELCCDMIDVVIDVSCIYGLKEDGSGSAYDKESMAIIKLNNTTVLYLKEVTKF
                     LALVCILREESFERKGLIDYNFHCFRKAIHEVFEVGVTSHRSCGHQTSASSLKALTHN
                     GTPRNAI"
     exon            364..567
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     exon            568..767
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     exon            768..882
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1025
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1174
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..2681
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2660..2665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /note="hexamer: AATAAA"
     polyA_site      2681
                     /gene="RRAGC"
                     /gene_synonym="GTR2; LNGODS; LNGOS; RAGC; TIB929"
                     /note="major polyA site"
ORIGIN      
        1 ggactgtggc ggctgccggg ggcggtggcg gtggtggcgg cggcggcgga ggcggactgg
       61 ggaggcggcg gcctggctcg gcctggcctg gcctgtcagg gcgcgggcgg cggcggctcc
      121 agcaccatgt ccctgcagta cggggcggag gagacgcccc tcgccggcag ttacggcgcg
      181 gccgattcgt ttccaaagga cttcggctac ggcgtggagg aggaggaaga ggaggcggcg
      241 gcggcgggcg gaggggttgg ggcaggggca ggcggtggct gtggtccggg gggcgctgac
      301 agctccaagc cgaggattct gctcatggga ctccggcgca gcggcaagtc ctccatccag
      361 aaggtggtgt ttcataagat gtcacccaac gagaccctct ttttggaaag taccaacaag
      421 atttataagg atgacatttc caatagctcc tttgtgaatt tccagatatg ggattttcct
      481 gggcaaatgg acttttttga cccaaccttt gactatgaga tgatcttcag gggaacagga
      541 gcattgatat acgtcattga cgcacaggat gactacatgg aggctttaac aagacttcac
      601 attactgttt ctaaagccta caaagttaac ccagacatga attttgaggt ttttattcac
      661 aaagttgatg gtctgtctga tgatcacaaa atagaaacac agagggacat tcatcaaagg
      721 gccaatgatg accttgcaga tgctgggcta gaaaaactcc atcttagctt ttatctgact
      781 agtatctatg accattcaat atttgaagcc tttagtaagg tggtgcagaa actcattcca
      841 caactgccga ccttggaaaa cctattaaat atctttatat caaattcagg tattgaaaaa
      901 gcttttctct ttgatgttgt cagcaaaatc tacattgcaa cagacagttc ccctgtggat
      961 atgcaatctt atgaactttg ctgtgacatg atcgatgttg taattgatgt gtcttgtata
     1021 tatgggttaa aggaagatgg aagtggaagt gcttatgaca aagaatctat ggcaattatc
     1081 aagctgaata atacaactgt cctttattta aaggaggtga ctaaattttt ggcactggtc
     1141 tgcattctaa gggaagaaag ctttgaaaga aaaggtttaa tagactacaa cttccactgt
     1201 ttccgaaaag ctattcatga ggtttttgag gtgggtgtga cttctcacag gagctgtggt
     1261 caccagacta gtgcctccag tctgaaagcg ctgacacaca atggcacgcc acgaaacgcc
     1321 atctagtctg aatcccagcg tcggggctct gtgccagctt actcttcact ccagggtcgg
     1381 atgccacgtg ctacaggaca tgggagctgc tgcttgtggg aatctggtgc ctgttccact
     1441 agagacaagg ggtagagttt ctcatttgga tgaaaacccc ttcaactggt ggtgtacaac
     1501 tgaagctact atatcttttt tgaaaatggc aaaaaaaaaa aaaaaaaatt ctggagacca
     1561 cagaactcaa gtgtgtgttt ctcctctttt gggtcccctt taagtagttg ggatattttg
     1621 gacctggaga taacaccagt tacccatcct taccagggaa tgttgccatc aattccagtt
     1681 gaaaataata gaaaagactg aatttttata tgcttcactt aggctttcat ttgagtagac
     1741 tctaaaaatt ctgccttgct taagttctaa cactgcctct cagatttcag ttttggacat
     1801 tgcacaacta agacctttta aatgcatttg cttgctaact cggaagacac atagtctgca
     1861 gcaagacatt cctatattga agaaatgaga gaaaatttta tgctgcatca ggtggagagc
     1921 aaggctcaac ggtggttgca ttagttccct cggaagtatt gaaaaaactt tgaaatggaa
     1981 gaaaattttt gcacctatgt tctgagtacc agatgtctgg gttctttctt ctgcattaga
     2041 taaatgatca tgctcagtgt aacaaaggga attaaaagtt ttcccacagt ccccttctag
     2101 gggagaaact cattgtgtca ctgaaatgtt tagcttactt taatcttgat atcagcctct
     2161 acagaccttt tattctaagc tatcgagctt cttgattgca tttggttgac cacgagtgac
     2221 cctaaggcat tgggggactg tccactggga gttggagtga gcacgtggtg ctgcaacagg
     2281 cattgtttta catactttgt ctctagtatt ctgacaccaa gtgtcaactg tggtactttc
     2341 tttgcctagg atatgaattc ataattgttg cttttgttga tggttgatac cctttccatt
     2401 gatttaaacc taacacatta tttctattcc acatgcccag tagacatata ttccaaagcc
     2461 actggaccac ttgagtacat aagtgccact gtttaatgca atatgtatat tcaggtctgt
     2521 aaagctaaca gtgtgacttg gagtgcttcc tgcaggtgat tctgacttga gtatttacat
     2581 ggaccatggt gatatccaaa agaaaaatgc tttttatatt tatagattat ttcattgaac
     2641 tatatatgaa atgggtatca ataaatgtat ttactccaaa a
//
