LOCUS       NM_012227               1875 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.
ACCESSION   NM_012227 XM_001124673
VERSION     NM_012227.4
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 1875)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1875)
  AUTHORS   Hillen,H.S., Lavdovskaia,E., Nadler,F., Hanitsch,E., Linden,A.,
            Bohnsack,K.E., Urlaub,H. and Richter-Dennerlein,R.
  TITLE     Structural basis of GTPase-mediated mitochondrial ribosome
            biogenesis and recycling
  JOURNAL   Nat Commun 12 (1), 3672 (2021)
   PUBMED   34135319
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1875)
  AUTHORS   Lavdovskaia,E., Denks,K., Nadler,F., Steube,E., Linden,A.,
            Urlaub,H., Rodnina,M.V. and Richter-Dennerlein,R.
  TITLE     Dual function of GTPBP6 in biogenesis and recycling of human
            mitochondrial ribosomes
  JOURNAL   Nucleic Acids Res 48 (22), 12929-12942 (2020)
   PUBMED   33264405
  REMARK    GeneRIF: Dual function of GTPBP6 in biogenesis and recycling of
            human mitochondrial ribosomes.
REFERENCE   4  (bases 1 to 1875)
  AUTHORS   Vawter,M.P., Harvey,P.D. and DeLisi,L.E.
  TITLE     Dysregulation of X-linked gene expression in Klinefelter's syndrome
            and association with verbal cognition
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 144B (6), 728-734 (2007)
   PUBMED   17347996
REFERENCE   5  (bases 1 to 1875)
  AUTHORS   Gianfrancesco,F., Sanges,R., Esposito,T., Tempesta,S., Rao,E.,
            Rappold,G., Archidiacono,N., Graves,J.A., Forabosco,A. and
            D'Urso,M.
  TITLE     Differential divergence of three human pseudoautosomal genes and
            their mouse homologs: implications for sex chromosome evolution
  JOURNAL   Genome Res 11 (12), 2095-2100 (2001)
   PUBMED   11731500
REFERENCE   6  (bases 1 to 1875)
  AUTHORS   Gianfrancesco,F., Esposito,T., Montanini,L., Ciccodicola,A.,
            Mumm,S., Mazzarella,R., Rao,E., Giglio,S., Rappold,G. and
            Forabosco,A.
  TITLE     A novel pseudoautosomal gene encoding a putative GTP-binding
            protein resides in the vicinity of the Xp/Yp telomere
  JOURNAL   Hum Mol Genet 7 (3), 407-414 (1998)
   PUBMED   9466997
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO681518.2 and BX000483.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 24, 2021 this sequence version replaced NM_012227.3.
            
            Summary: This gene encodes a GTP binding protein and is located in
            the pseudoautosomal region (PAR) at the end of the short arms of
            the X and Y chromosomes. [provided by RefSeq, Nov 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223412.1, SRR11853564.28556.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326153.10/ ENSP00000316598.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-358               FO681518.2         17696-18053         c
            359-496             FO681518.2         16171-16308         c
            497-567             FO681518.2         14486-14556         c
            568-698             FO681518.2         14147-14277         c
            699-766             BX000483.7         15351-15418         c
            767-925             BX000483.7         13967-14125         c
            926-1134            BX000483.7         12620-12828         c
            1135-1283           BX000483.7         8933-9081           c
            1284-1436           BX000483.7         8561-8713           c
            1437-1875           BX000483.7         5960-6398           c
FEATURES             Location/Qualifiers
     source          1..1875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     gene            1..1875
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /note="GTP binding protein 6 (putative)"
                     /db_xref="GeneID:8225"
                     /db_xref="HGNC:HGNC:30189"
                     /db_xref="MIM:300124"
     exon            1..358
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1560
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /codon_start=1
                     /product="putative GTP-binding protein 6"
                     /protein_id="NP_036359.3"
                     /db_xref="CCDS:CCDS75943.1"
                     /db_xref="GeneID:8225"
                     /db_xref="HGNC:HGNC:30189"
                     /db_xref="MIM:300124"
                     /translation="MWALRAAVRPGLRLSRVGRGRSAPRAAAPSCPARALAAVGRRSP
                     GNLEGPWGGGRGLRADGGRSRTGDDEEEPEDADENAEEELLRGEPLLPAGTQRVCLVH
                     PDVKWGPGKSQMTRAEWQVAEATALVHTLDGWSVVQTMVVSTKTPDRKLIFGKGNFEH
                     LTEKIRGSPDITCVFLNVERMAAPTKKELEAAWGVEVFDRFTVVLHIFRCNARTKEAR
                     LQVALAEMPLHRSNLKRDVAHLYRGVGSRYIMGSGESFMQLQQRLLREKEAKIRKALD
                     RLRKKRHLLRRQRTRREFPVISVVGYTNCGKTTLIKALTGDAAIQPRDQLFATLDVTA
                     HAGTLPSRMTVLYVDTIGFLSQLPHGLIESFSATLEDVAHSDLILHVRDVSHPEAELQ
                     KCSVLSTLRGLQLPAPLLDSMVEVHNKVDLVPGYSPTEPNVVPVSALRGHGLQELKAE
                     LDAAVLKATGRQILTLRVRLAGAQLSWLYKEATVQEVDVIPEDGAADVRVIISNSAYG
                     KFRKLFPG"
     exon            359..496
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            497..567
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            568..698
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            699..766
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            767..925
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1134
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1283
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1436
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1875
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1858..1863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /note="hexamer: ATTAAA"
     polyA_site      1875
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /note="major polyA site"
ORIGIN      
        1 agacgcgcca tgtgggccct gcgggccgcc gtacgcccgg ggctgcggct ctcccgcgtg
       61 ggccgcggcc gctcggctcc gcgggcagcc gcgccgtcct gccccgcgcg cgcgctagcc
      121 gctgtcggcc gcaggagccc cgggaatctg gaggggccgt ggggcggagg gcggggcctg
      181 cgggcggacg gcggccgaag ccgcacggga gacgacgagg aggagccgga agatgcggac
      241 gagaacgccg aggaggagct gctgcgggga gagcctctgc tgccggcggg gacccagcgc
      301 gtgtgtctgg ttcaccctga cgtcaagtgg ggcccgggga agtcgcagat gactcgagcc
      361 gagtggcagg tggcggaggc cacagcgctg gtgcacacgc tggacggctg gtccgtggtg
      421 cagacaatgg tcgtgtccac caaaacgccg gacaggaagc tcatctttgg caaagggaac
      481 tttgagcacc tgacagaaaa gatccgaggg tctccagaca tcacgtgcgt cttcctgaac
      541 gtggagagga tggctgcccc gaccaagaaa gaactggaag ccgcctgggg cgtggaggtg
      601 tttgaccgct tcacggtcgt cctgcacatc ttccgctgta acgcccgcac gaaggaggcc
      661 cggcttcagg tggccctggc ggagatgccg ctgcacaggt cgaacttgaa aagggacgtc
      721 gcccacctgt accgaggagt cggctcgcgc tacatcatgg ggtcaggaga atccttcatg
      781 cagctgcagc agcgtctcct gagagagaag gaggccaaga tcaggaaggc cttggacagg
      841 cttcgcaaga agaggcacct gctccgccgg cagcggacga ggcgggagtt ccccgtgatc
      901 tccgtggtgg ggtacaccaa ctgcggaaag accacgctga tcaaggcact gacgggcgat
      961 gccgccatcc agccacggga ccagctgttt gccacgctgg acgtcacggc ccacgcgggc
     1021 acgctgccct cacgcatgac cgtcctgtac gtggacacca tcggcttcct ctcccagctg
     1081 ccgcacggcc tcatcgagtc cttctccgcc accctggaag acgtggccca ctcggatctc
     1141 atcttgcacg tgagggacgt cagccacccc gaggcggagc tccagaaatg cagcgttctg
     1201 tccacgctgc gtggcctgca gctgcccgcc ccgctcctgg actccatggt ggaggttcac
     1261 aacaaggtgg acctcgtgcc cgggtacagc cccacggaac cgaacgtcgt gcccgtgtct
     1321 gccctgcggg gccacgggct ccaggagctg aaagctgagc tcgatgcggc ggttttgaag
     1381 gcgacgggga gacagatcct cactctccgt gtgaggctcg caggggcgca gctcagctgg
     1441 ctgtataagg aggccacagt tcaggaggtg gacgtgatcc ctgaggacgg ggcggccgac
     1501 gtgagggtca tcatcagcaa ctcagcctac ggcaaattcc ggaagctctt tccaggatga
     1561 acggacgccc acagaggcct gcggggtggg ggcatcgctg cctggggagc tgaggcgtta
     1621 ccgctgtgtt gggggcagct tggtgtcagg tgcagcaggg tcctccttgt ctggttctgc
     1681 acccgtctcg ctcccagcca tttgctggga tgaccgtgca ggccggtgac acggccgcac
     1741 ctgccccaaa gcgggccgcc cgagcgtcca ctccaagcct gagcatccac acaattccag
     1801 tgggccctcg gtgcctgctg tgaactgctt tccctcggaa tgtttccgta acaggacatt
     1861 aaacctttga tttta
//
