LOCUS       NM_019096               3031 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens GTP binding protein 2 (GTPBP2), transcript variant 1,
            mRNA.
ACCESSION   NM_019096
VERSION     NM_019096.5
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 3031)
  AUTHORS   Salpietro,V., Maroofian,R., Zaki,M.S., Wangen,J., Ciolfi,A.,
            Barresi,S., Efthymiou,S., Lamaze,A., Aughey,G.N., Al Mutairi,F.,
            Rad,A., Rocca,C., Cali,E., Accogli,A., Zara,F., Striano,P.,
            Mojarrad,M., Tariq,H., Giacopuzzi,E., Taylor,J.C., Oprea,G.,
            Skrahina,V., Rehman,K.U., Abd Elmaksoud,M., Bassiony,M., El
            Said,H.G., Abdel-Hamid,M.S., Al Shalan,M., Seo,G., Kim,S., Lee,H.,
            Khang,R., Issa,M.Y., Elbendary,H.M., Rafat,K., Marinakis,N.M.,
            Traeger-Synodinos,J., Ververi,A., Sourmpi,M., Eslahi,A., Khadivi
            Zand,F., Beiraghi Toosi,M., Babaei,M., Jackson,A.,
            Bertoli-Avella,A., Pagnamenta,A.T., Niceta,M., Battini,R.,
            Corsello,A., Leoni,C., Chiarelli,F., Dallapiccola,B., Faqeih,E.A.,
            Tallur,K.K., Alfadhel,M., Alobeid,E., Maddirevula,S., Mankad,K.,
            Banka,S., Ghayoor-Karimiani,E., Tartaglia,M., Chung,W.K., Green,R.,
            Alkuraya,F.S., Jepson,J.E.C. and Houlden,H.
  CONSRTM   SYNAPS Study Group
  TITLE     Bi-allelic genetic variants in the translational GTPases GTPBP1 and
            GTPBP2 cause a distinct identical neurodevelopmental syndrome
  JOURNAL   Am J Hum Genet 111 (1), 200-210 (2024)
   PUBMED   38118446
  REMARK    GeneRIF: Bi-allelic genetic variants in the translational GTPases
            GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental
            syndrome.
REFERENCE   2  (bases 1 to 3031)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3031)
  AUTHORS   Carter,M.T., Venkateswaran,S., Shapira-Zaltsberg,G., Davila,J.,
            Humphreys,P., Kernohan,K.D. and Boycott,K.M.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Clinical delineation of GTPBP2-associated neuro-ectodermal
            syndrome: Report of two new families and review of the literature
  JOURNAL   Clin Genet 95 (5), 601-606 (2019)
   PUBMED   30790272
  REMARK    GeneRIF: prenatal and neonatal findings as well as the first
            Caucasian and black African families with GTPBP2 biallelic
            variants, are reported.
            Review article
REFERENCE   4  (bases 1 to 3031)
  AUTHORS   Zinoviev,A., Goyal,A., Jindal,S., LaCava,J., Komar,A.A.,
            Rodnina,M.V., Hellen,C.U.T. and Pestova,T.V.
  TITLE     Functions of unconventional mammalian translational GTPases GTPBP1
            and GTPBP2
  JOURNAL   Genes Dev 32 (17-18), 1226-1241 (2018)
   PUBMED   30108131
  REMARK    GeneRIF: GTPBP2 lacked elongation activity and did not stimulate
            exosomal degradation, indicating that GTPBP1 and GTPBP2 have
            different functions.
REFERENCE   5  (bases 1 to 3031)
  AUTHORS   Bertoli-Avella,A.M., Garcia-Aznar,J.M., Brandau,O., Al-Hakami,F.,
            Yuksel,Z., Marais,A., Gruning,N.M., Abbasi Moheb,L., Paknia,O.,
            Alshaikh,N., Alameer,S., Marafi,M.J., Al-Mulla,F., Al-Sannaa,N.,
            Rolfs,A. and Bauer,P.
  TITLE     Biallelic inactivating variants in the GTPBP2 gene cause a
            neurodevelopmental disorder with severe intellectual disability
  JOURNAL   Eur J Hum Genet 26 (4), 592-598 (2018)
   PUBMED   29449720
  REMARK    GeneRIF: Biallelic inactivating variants in the GTPBP2 were
            identified in two patients with severe intellectual disability and
            structural brain abnormalities.
REFERENCE   6  (bases 1 to 3031)
  AUTHORS   Jaberi,E., Rohani,M., Shahidi,G.A., Nafissi,S., Arefian,E.,
            Soleimani,M., Rasooli,P., Ahmadieh,H., Daftarian,N., Carrami,E.M.,
            Klotzle,B., Fan,J.B., Turk,C., Steemers,F. and Elahi,E.
  TITLE     Identification of mutation in GTPBP2 in patients of a family with
            neurodegeneration accompanied by iron deposition in the brain
  JOURNAL   Neurobiol Aging 38, 216 (2016)
   PUBMED   26675814
  REMARK    GeneRIF: It may be a novel neurodegeneration with brain iron
            accumulation gene.
REFERENCE   7  (bases 1 to 3031)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   8  (bases 1 to 3031)
  AUTHORS   Watanabe,M., Yoshida,K., Hida,M., Kato,H., Uchida,K., Yamaguchi,R.,
            Tateyama,S. and Sugano,S.
  TITLE     Cloning, expression analysis, and chromosomal mapping of GTPBP2, a
            novel member of the G protein family
  JOURNAL   Gene 256 (1-2), 51-58 (2000)
   PUBMED   11054535
REFERENCE   9  (bases 1 to 3031)
  AUTHORS   Kudo,H., Senju,S., Mitsuya,H. and Nishimura,Y.
  TITLE     Mouse and human GTPBP2, newly identified members of the GP-1 family
            of GTPase
  JOURNAL   Biochem Biophys Res Commun 272 (2), 456-465 (2000)
   PUBMED   10833435
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353602.10, CN263880.1 and BC064968.1.
            
            On Nov 23, 2018 this sequence version replaced NM_019096.4.
            
            Summary: GTP-binding proteins, or G proteins, constitute a
            superfamily capable of binding GTP or GDP. G proteins are activated
            by binding GTP and are inactivated by hydrolyzing GTP to GDP. This
            general mechanism enables G proteins to perform a wide range of
            biologic activities.[supplied by OMIM, Jan 2003].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.653955.1,
                                           SRR1803617.242939.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307126.10/ ENSP00000303997.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL353602.10        36168-36185         c
            19-65               CN263880.1         30-76
            66-3031             BC064968.1         1-2966
FEATURES             Location/Qualifiers
     source          1..3031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3031
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="GTP binding protein 2"
                     /db_xref="GeneID:54676"
                     /db_xref="HGNC:HGNC:4670"
                     /db_xref="MIM:607434"
     exon            1..288
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1911
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="GTP-binding protein 2 isoform a"
                     /protein_id="NP_061969.3"
                     /db_xref="CCDS:CCDS4903.1"
                     /db_xref="GeneID:54676"
                     /db_xref="HGNC:HGNC:4670"
                     /db_xref="MIM:607434"
                     /translation="MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKK
                     NGRNRGGKANNPPYLPPEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVY
                     QIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVL
                     VRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSG
                     RTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLT
                     SYCPDCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDLCAKTTVERTVRQLE
                     RVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNIL
                     PPLTNSKEQEELMQQLTEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGC
                     FLELRVCSIQRNRSACRVLRAGQAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEA
                     EIVLLFHATTFRRGFQVTVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFLKHPEYL
                     KVGAKLLFREGVTKGIGHVTDVQAITAGEAQANMGF"
     exon            289..315
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            316..500
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            501..609
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            610..807
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            808..982
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1202
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1338
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1397
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1569
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1734
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..3031
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3012..3017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="hexamer: AATAAA"
     polyA_site      3031
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="major polyA site"
ORIGIN      
        1 actctgctca ggccggccgg acacggcagt ggcagtaagg gcggcggcga cggcggcggc
       61 ggtcggggga ggggccgggc ggggggctgg cggcagcggc ggatggactc gcgggtatcg
      121 gagctgttcg gcggctgctg ccggcccgga gggggcccgg ccgtgggcgg aaccctcaag
      181 gctagggggg ccggcagcag cagcggctgc ggggggccaa agggaaagaa gaagaacgga
      241 aggaacagag ggggcaaagc caacaacccc ccgtatttgc cccccgaggc tgaagatgga
      301 aacattgaat ataaattgaa gctggtgaat ccatcccagt accgctttga gcacctggtg
      361 acacaaatga agtggcggct ccaggaggga cgtggtgagg ccgtctacca gattggggta
      421 gaggacaatg ggctgctggt ggggctggct gaggaggaaa tgcgagcttc gctcaagacc
      481 ctgcaccgga tggcagagaa ggttggggca gacataaccg ttcttcgaga gcgagaagtg
      541 gattatgata gcgacatgcc ccggaagatc accgaggtgc tagtacgaaa ggtccctgac
      601 aaccaacagt tcctagacct ccgtgtggcc gtcctgggga atgtggactc tgggaagtca
      661 actctgcttg gagtcctgac ccagggagag ctggacaatg ggcggggccg ggctcggctc
      721 aaccttttcc gccacctgca tgagattcag tctggccgaa cctccagcat cagcttcgag
      781 atcctgggct ttaacagcaa gggagaggtg gtgaattaca gcgactcacg gacagcagaa
      841 gagatctgtg agagcagctc caagatgatc accttcatcg acctggcagg ccaccataag
      901 tacctacaca ccaccatctt tggcctcaca tcatactgcc ccgactgcgc cctgctcctc
      961 gtcagtgcca acactgggat tgctggcacc acaagggaac atctggggct ggccctggcc
     1021 ctgaaagtgc ccttcttcat cgtggtcagc aagatcgacc tatgtgccaa gaccacagtg
     1081 gagaggacag tacgccagct ggagcgggtc ctcaagcagc ctggctgcca caaggtcccc
     1141 atgctggtca cctctgagga tgatgccgtc actgctgccc agcagtttgc tcagtcaccc
     1201 aatgtcaccc ccatcttcac attgtccagt gtgtctggag agagtctgga cctcctcaaa
     1261 gtctttctga atattctgcc gccactcacc aacagcaaag agcaggagga actcatgcag
     1321 cagctgacgg agttccaggt ggatgaaatc tacacagtac cagaggtggg gactgttgtt
     1381 ggaggaacac tttccagtgg gatttgccgt gagggggacc agctggtggt gggccccacg
     1441 gatgatggct gcttcctgga gctgagagta tgcagcatcc agcgcaaccg ctctgcctgt
     1501 cgtgtgctgc gagctggtca ggctgctaca ctggcgcttg gggactttga ccgtgcactg
     1561 cttcgcaagg gcatggtgat ggtgagcccg gagatgaatc ctaccatctg ctcggtgttt
     1621 gaggcagaga tagtcttact gttccatgcc accaccttcc gacgaggatt ccaggtgaca
     1681 gtacacgtgg gcaacgtacg tcagacggca gtggtggaaa agatccatgc caaggacaaa
     1741 ctgcggacag gcgagaaggc agtggtacgt ttccgcttcc tgaaacaccc agagtacctg
     1801 aaggtgggcg ccaaactgct gttccgggag ggtgtcacca agggcatcgg ccatgtcact
     1861 gatgtacaag ccattacagc aggagaagcc caggccaaca tgggcttctg aacccttcag
     1921 gcagggacag ttctattgct gtccctacaa tatataaggt gacttctggc catgctgccc
     1981 tgccattggc ggctctgtgt gttaataggc tagggagaga ggggtgctgt ctgccacttg
     2041 ctccctgcca actttctgga gaggtgccaa acttggtgtg gccaggaaag ggcagtcctg
     2101 agggagaaga caggattcag ggcagtgctc cgaagctgtg tgctcacctg gttggctcat
     2161 caaacctggc aaccctgtgg cctgtctgcc ggagctgact ggatccactc atcaattctt
     2221 cgtccccact actaagactg ggcatgtttt gctggtgtgg tctctgcact tcaggaatgg
     2281 tcacaacagg gggtagccct caaaagcact cctttttcta tacctcttct caaggccatg
     2341 taagttgccc atctctacct ggctgtggac aaaaggttat ctgctcttgg ccatctggtg
     2401 gtggtggcgg cccagagtct gaagaaatgg cacagggaca gtgaatggta gtgttgccac
     2461 cctgtgctga ggcctgaggc ctcttcctca gctttatctc cctttccttc actcaagggc
     2521 catttcccca gtccctatct cccccatccc ctcccggctt ataggcccca caggtgctat
     2581 ttgttgtgct ggcccaggcg tggggctacc aagcaaaggc ttggcatata ccaaaggcca
     2641 gctgcatgcc catcagtctg gtctttttcc tctgcggtca tgttggcttt catgctggat
     2701 caaatgtttt actttcccag actggtggca tctgagttcc ccatcctacc actctcaccc
     2761 cactttcctg ccccacctaa accctcgttt tagtaatttg tagtgactgt tcccttccct
     2821 ctgttgcagg gaaccaggag gaaagggaaa gatgttgcca tatttcctac tctttaggca
     2881 tggactctcc tttccctttg ttagtgtcct gggttcccat ggactcaggg atttgttggc
     2941 taaggtttct ctgtgcatat atatatatat acatatgtat atatatttaa atacacatat
     3001 atattgtaca gaataaaaat gttttattga a
//
