LOCUS       NM_017872               2885 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tRNA-histidine guanylyltransferase 1 like (THG1L),
            transcript variant 1, mRNA.
ACCESSION   NM_017872
VERSION     NM_017872.5
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 2885)
  AUTHORS   Antika,T.R., Nazilah,K.R., Lee,Y.H., Lo,Y.T., Yeh,C.S., Yeh,F.L.,
            Chang,T.H., Wang,T.L. and Wang,C.C.
  TITLE     Human Thg1 displays tRNA-inducible GTPase activity
  JOURNAL   Nucleic Acids Res 50 (17), 10015-10025 (2022)
   PUBMED   36107775
  REMARK    GeneRIF: Human Thg1 displays tRNA-inducible GTPase activity.
            Erratum:[Nucleic Acids Res. 2022 Nov 11;50(20):11992. doi:
            10.1093/nar/gkac1057.. PMID: 36305790]
REFERENCE   2  (bases 1 to 2885)
  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   3  (bases 1 to 2885)
  AUTHORS   Nakamura,A., Wang,D. and Komatsu,Y.
  TITLE     Analysis of GTP addition in the reverse (3'-5') direction by human
            tRNAHis guanylyltransferase
  JOURNAL   RNA 27 (6), 665-675 (2021)
   PUBMED   33758037
  REMARK    GeneRIF: Analysis of GTP addition in the reverse (3'-5') direction
            by human tRNA(His) guanylyltransferase.
REFERENCE   4  (bases 1 to 2885)
  AUTHORS   Rabin,R., Hirsch,Y., Johansson,M.M., Ekstein,J., Ekstein,A. and
            Pappas,J.
  TITLE     Severe epileptic encephalopathy associated with compound
            heterozygosity of THG1L variants in the Ashkenazi Jewish population
  JOURNAL   Am J Med Genet A 185 (5), 1589-1597 (2021)
   PUBMED   33682303
  REMARK    GeneRIF: Severe epileptic encephalopathy associated with compound
            heterozygosity of THG1L variants in the Ashkenazi Jewish
            population.
REFERENCE   5  (bases 1 to 2885)
  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   6  (bases 1 to 2885)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 2885)
  AUTHORS   Perona,J.J. and Oza,J.P.
  TITLE     Crystal structure of a reverse polymerase
  JOURNAL   Proc Natl Acad Sci U S A 107 (47), 20149-20150 (2010)
   PUBMED   21078997
  REMARK    GeneRIF: The catalytic domain of Thg1 shares both a common
            architecture and a two-metal ion-dependent mechanism with canonical
            5'-3' DNA polymerases.
REFERENCE   8  (bases 1 to 2885)
  AUTHORS   Hyde,S.J., Eckenroth,B.E., Smith,B.A., Eberley,W.A., Heintz,N.H.,
            Jackman,J.E. and Doublie,S.
  TITLE     tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl
            transferase, shares unexpected structural homology with canonical
            5'-3' DNA polymerases
  JOURNAL   Proc Natl Acad Sci U S A 107 (47), 20305-20310 (2010)
   PUBMED   21059936
REFERENCE   9  (bases 1 to 2885)
  AUTHORS   Murphy,M., Docherty,N.G., Griffin,B., Howlin,J., McArdle,E.,
            McMahon,R., Schmid,H., Kretzler,M., Droguett,A., Mezzano,S.,
            Brady,H.R., Furlong,F., Godson,C. and Martin,F.
  TITLE     IHG-1 amplifies TGF-beta1 signaling and is increased in renal
            fibrosis
  JOURNAL   J Am Soc Nephrol 19 (9), 1672-1680 (2008)
   PUBMED   18508967
  REMARK    GeneRIF: induced in high glucose-1 (IHG-1)which increases in
            diabetic nephropathy, may enhance the actions of TGF-beta1 and
            contribute to the development of tubulointerstitial fibrosis
REFERENCE   10 (bases 1 to 2885)
  AUTHORS   Guo,D., Hu,K., Lei,Y., Wang,Y., Ma,T. and He,D.
  TITLE     Identification and characterization of a novel cytoplasm protein
            ICF45 that is involved in cell cycle regulation
  JOURNAL   J Biol Chem 279 (51), 53498-53505 (2004)
   PUBMED   15459185
  REMARK    GeneRIF: ICF45 is a highly conserved novel protein, which is
            expressed in a cell cycle-dependent manner and seemed to be
            involved in cell cycle progression and cell proliferation
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY463216.1, AC026407.4 and
            CA426270.1.
            
            On Nov 22, 2018 this sequence version replaced NM_017872.4.
            
            Summary: The protein encoded by this gene is a mitochondrial
            protein that is induced by high levels of glucose and is associated
            with diabetic nephropathy. The encoded protein appears to increase
            mitochondrial biogenesis, which could lead to renal fibrosis.
            Another function of this protein is that of a guanyltransferase,
            adding GMP to the 5' end of tRNA(His). Several transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and 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##
            Transcript exon combination :: SRR1803615.204482.1,
                                           SRR1803616.138890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231198.12/ ENSP00000231198.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1200              AY463216.1         106-1305
            1201-2503           AC026407.4         106651-107953       c
            2504-2883           CA426270.1         19-398              c
            2884-2885           AC026407.4         106269-106270       c
FEATURES             Location/Qualifiers
     source          1..2885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..2885
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="tRNA-histidine guanylyltransferase 1 like"
                     /db_xref="GeneID:54974"
                     /db_xref="HGNC:HGNC:26053"
                     /db_xref="MIM:618802"
     exon            1..212
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..918
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /EC_number="2.7.7.79"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable tRNA(His) guanylyltransferase; interphase
                     cytoplasmic foci protein 45; induced by high glucose-1;
                     induced in high glucose-1"
                     /codon_start=1
                     /product="probable tRNA(His) guanylyltransferase isoform
                     1"
                     /protein_id="NP_060342.2"
                     /db_xref="CCDS:CCDS4341.1"
                     /db_xref="GeneID:54974"
                     /db_xref="HGNC:HGNC:26053"
                     /db_xref="MIM:618802"
                     /translation="MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEAD
                     DTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYG
                     QSDEYSFVFKRKTNWFKRRASKFMTHVASQFASSYVFYWRDYFEDQPLLYPPGFDGRV
                     VVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNE
                     ILFSEFNINYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVP
                     LHCDIIGDAFWKEHPEILDEDS"
     exon            213..389
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     exon            390..559
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     exon            560..648
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     exon            649..756
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     exon            757..2885
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1180..1185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="hexamer: TATAAA"
     polyA_site      1200
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="major polyA site"
     regulatory      1211..1216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="hexamer: AATGAA"
     regulatory      1234..1239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="hexamer: CATAAA"
     polyA_site      1239
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
     polyA_site      1252
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
     regulatory      2864..2869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
                     /note="hexamer: AATAAA"
     polyA_site      2885
                     /gene="THG1L"
                     /gene_synonym="hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1"
ORIGIN      
        1 cctttccttt ccgcgtgtag aatgtggggc gcctgtaaag ttaaggttca cgattccttg
       61 gccaccattt ccatcactct gagacggtac ctgagattgg gggcgaccat ggcaaaaagc
      121 aagttcgagt acgtgaggga cttcgaggct gacgacacct gcctggcaca ctgctgggtg
      181 gtagtgcggc tggacggccg gaatttccat cggtttgctg agaagcacaa ctttgcaaaa
      241 cccaatgaca gccgtgctct ccagctgatg accaaatgtg cgcagactgt gatggaagaa
      301 ctagaggata ttgtgatcgc gtatggacag agtgatgagt acagctttgt gttcaagcgg
      361 aaaaccaatt ggtttaaaag aagagccagt aagttcatga ctcacgtggc ctcccagttt
      421 gcctccagct atgtgtttta ttggcgggat tactttgagg accagcccct tctgtatccc
      481 ccaggctttg acggaagagt cgtggtgtat cccagcaacc agactttaaa ggactacctc
      541 agctggcgac aagcagattg tcacatcaat aatctttata atacagtttt ctgggcactt
      601 atacaacaat ctggactaac accagtacaa gcccaaggga gattacaggg aactcttgca
      661 gcagacaaga atgagatttt gttttctgaa ttcaacatca actataataa tgagctgccg
      721 atgtatagga aagggactgt gttgatatgg cagaaggtgg atgaagtgat gacaaaagaa
      781 attaagctgc caacagaaat ggaaggaaaa aagatggcag tgacccggac caggacaaag
      841 ccagtgccct tgcactgcga tatcatcggg gatgctttct ggaaggaaca tccagagatt
      901 ctagatgaag acagctgacc cttttgcgct tcagttctgg tgtgcttaac catgcaagcc
      961 ctcccacctc ccagggctcc ttgccttagg tggctgtagc atccctacca cccaggacac
     1021 tggtgcgaat gacacaactc aagttgggag gggaacaggg aaggaaggga tggatggggg
     1081 tggtgtatct tactctgttt aagcagaaca ccttgtttgc ggtgttggaa catggttcct
     1141 ttggcagaag tgcttttttt ttaatcgcag tactattttt ataaagcaag aactattcca
     1201 tgccttggag aatgaatcat ttttagattg tgacataaat cttgtaaaaa cctgtcagtt
     1261 attttcatct atgagagaag aggagcccaa actctcgccc acctgttctt aaccagaaaa
     1321 cccactgact ttgaaaatct cacctctgcc acccatctac ttgcattcgt ctttggcaga
     1381 cctcaagata aatatgggtt aatgcctgca tgatgcctct gaattcagga attgcaggga
     1441 aaactcgggg ctttgtgcca gtctctaagt tggcaacttt ggctgaacaa atgagtagtg
     1501 gcttcagtgt ccttgcgtac acattctgtg gattgattta atggagttgt cagcatgatc
     1561 atcatcttct agccaggggc atagttgcca aggccattta cctctttcta agaagaaaca
     1621 gaattatgtg tatatatgag agaaagaaac aagaatgcgt gaatgaggat gaagaaacat
     1681 ttaccccatg tactcaagac atttcagttt taaaagtcac tttcctatta gacttcttga
     1741 aaaacattct cacatagcct ctatgtaatc agacaaatga catttgattt caagagcaga
     1801 ggggtaaaca tcctctgcta atcgacaggt agcaggtgtc agaggaggca taatattaat
     1861 agcgccacct tctgttgggt cagtggagat gggtgaggaa cagcacagag cagcagggat
     1921 catcacatgc agccaaactt ggcctctgaa gggggaaggt agtgggaata ggtggtgaga
     1981 gaactcacat ttttctcttg tcctggtttt atatttcgga gggaaaggat tatttggccc
     2041 cattaagaat taagaggctg ggtgcggtgg ctcacgtctg taatcccagc accttgggag
     2101 gcccaggcag gcagatcacc tgaggtcggg agttcgagac cagcgtgacc aacgtggaga
     2161 aacccccgtc tctactaaaa atacaaaaaa ttagctgggc atggtggtgc atgcctgtga
     2221 ttccagctac ttgggaggtt gaggcaggag aatcatttga actcaggagg cggaagttgc
     2281 ggtgagccaa gattgtgcca ttgcactcca gcctgggcaa cgagcgaaac tacatctcaa
     2341 aaaaaaaaaa aaaagacatg gctgggcatg gtggctcaca cctgtaatcc cagcactttg
     2401 gggggctgag gcaggtagat cacttcaggc caggagtcca agaccagcac gtccaacatg
     2461 gcaaaaccca gtctgtacta aaaatagaaa aattagctgg gcgtggtggc gtgtgcctgc
     2521 aataccagct actcagaagg ctgaagcagg ataattgctt gaacctggta ggtggaggtt
     2581 gcagtgagct gaaatcatgc cactgcactc cagcctgggt gacagagcaa aactgcctta
     2641 aaaaaaaaaa ttaagagaca gcccgtgtcc cagtccctcg tcttgcactg cagaatttac
     2701 atctaagaag aaaatgtatt tttgaaaggg tgatggctgg cctcatccct cactaattga
     2761 caacccatct gtcgatgcca ttttttccct tcctgttctc actccacaga aagaggagat
     2821 acggttcttg tttggtaatt gctaaaatct ctttgaggaa agaaataaag atgtcaactc
     2881 ctttg
//
