LOCUS       NM_001312692            1913 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), transcript
            variant 17, mRNA.
ACCESSION   NM_001312692
VERSION     NM_001312692.1
KEYWORDS    RefSeq.
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 1913)
  AUTHORS   Smol,T., Brunelle,P., Caumes,R., Boute-Benejean,O., Thuillier,C.,
            Figeac,M., Ait-Yahya,E., Bonte,F., Mau-Them,F.T.,
            Thauvin-Robinet,C., Faivre,L., Roche-Lestienne,C.,
            Manouvrier-Hanu,S., Petit,F. and Ghoumid,J.
  TITLE     TRIT1 deficiency: Two novel patients with four novel variants
  JOURNAL   Eur J Med Genet 65 (11), 104603 (2022)
   PUBMED   36049610
  REMARK    GeneRIF: TRIT1 deficiency: Two novel patients with four novel
            variants.
REFERENCE   2  (bases 1 to 1913)
  AUTHORS   Muylle,E., Jiang,H., Johnsen,C., Byeon,S.K., Ranatunga,W.,
            Garapati,K., Zenka,R.M., Preston,G., Pandey,A., Kozicz,T., Fang,F.
            and Morava,E.
  TITLE     TRIT1 defect leads to a recognizable phenotype of myoclonic
            epilepsy, speech delay, strabismus, progressive spasticity, and
            normal lactate levels
  JOURNAL   J Inherit Metab Dis 45 (6), 1039-1047 (2022)
   PUBMED   36047296
  REMARK    GeneRIF: TRIT1 defect leads to a recognizable phenotype of
            myoclonic epilepsy, speech delay, strabismus, progressive
            spasticity, and normal lactate levels.
            Review article
REFERENCE   3  (bases 1 to 1913)
  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   4  (bases 1 to 1913)
  AUTHORS   Scholler,E., Marks,J., Marchand,V., Bruckmann,A., Powell,C.A.,
            Reichold,M., Mutti,C.D., Dettmer,K., Feederle,R., Huttelmaier,S.,
            Helm,M., Oefner,P., Minczuk,M., Motorin,Y., Hafner,M. and
            Meister,G.
  TITLE     Balancing of mitochondrial translation through METTL8-mediated m3C
            modification of mitochondrial tRNAs
  JOURNAL   Mol Cell 81 (23), 4810-4825 (2021)
   PUBMED   34774131
REFERENCE   5  (bases 1 to 1913)
  AUTHORS   Lamichhane,T.N., Mattijssen,S. and Maraia,R.J.
  TITLE     Human cells have a limited set of tRNA anticodon loop substrates of
            the tRNA isopentenyltransferase TRIT1 tumor suppressor
  JOURNAL   Mol Cell Biol 33 (24), 4900-4908 (2013)
   PUBMED   24126054
  REMARK    GeneRIF: TRIT1 may control the levels of some tRNAs as well as
            their specific activity.
REFERENCE   6  (bases 1 to 1913)
  AUTHORS   Chen,S., Zheng,Z., Tang,J., Lin,X., Wang,X. and Lin,J.
  TITLE     Association of polymorphisms and haplotype in the region of TRIT1,
            MYCL1 and MFSD2A with the risk and clinicopathological features of
            gastric cancer in a southeast Chinese population
  JOURNAL   Carcinogenesis 34 (5), 1018-1024 (2013)
   PUBMED   23349019
  REMARK    GeneRIF: One TRIT1 haplotype, CCGT, was associated with lymph node
            metastasis.
REFERENCE   7  (bases 1 to 1913)
  AUTHORS   Spinola,M., Falvella,F.S., Galvan,A., Pignatiello,C., Leoni,V.P.,
            Pastorino,U., Paroni,R., Chen,S., Skaug,V., Haugen,A. and
            Dragani,T.A.
  TITLE     Ethnic differences in frequencies of gene polymorphisms in the
            MYCL1 region and modulation of lung cancer patients' survival
  JOURNAL   Lung Cancer 55 (3), 271-277 (2007)
   PUBMED   17145094
  REMARK    GeneRIF: The rare allele of TRIT1 Phe202Leu SNP was approximately
            seven-fold more frequent in Asian than in Caucasian subjects and
            three additional SNPs in the TRIT1 gene showed ethnic differences
            in allelic frequencies
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1913)
  AUTHORS   Spinola,M., Galvan,A., Pignatiello,C., Conti,B., Pastorino,U.,
            Nicander,B., Paroni,R. and Dragani,T.A.
  TITLE     Identification and functional characterization of the candidate
            tumor suppressor gene TRIT1 in human lung cancer
  JOURNAL   Oncogene 24 (35), 5502-5509 (2005)
   PUBMED   15870694
REFERENCE   9  (bases 1 to 1913)
  AUTHORS   Lemieux,J., Lakowski,B., Webb,A., Meng,Y., Ubach,A., Bussiere,F.,
            Barnes,T. and Hekimi,S.
  TITLE     Regulation of physiological rates in Caenorhabditis elegans by a
            tRNA-modifying enzyme in the mitochondria
  JOURNAL   Genetics 159 (1), 147-157 (2001)
   PUBMED   11560893
REFERENCE   10 (bases 1 to 1913)
  AUTHORS   Golovko,A., Hjalm,G., Sitbon,F. and Nicander,B.
  TITLE     Cloning of a human tRNA isopentenyl transferase
  JOURNAL   Gene 258 (1-2), 85-93 (2000)
   PUBMED   11111046
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE294565.1, BC010741.1 and
            AK223478.1.
            
            Summary: This gene encodes a protein that that is targeted to the
            mitochondrion and modifies transfer RNAs (tRNAs) by adding a
            dimethylallyl group onto the adenine at position 37. This
            modification is important for maintaining the correct reading frame
            during protein translation. This gene is considered a tumor
            suppressor and its expression can decrease cell growth. Alternative
            splicing results in multiple transcripts variants, most of which
            are likely non-functional. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (17) lacks two alternate in-frame
            exons and uses an alternate in-frame splice site compared to
            variant 1. The encoded isoform (3) is shorter than 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 :: BC010741.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                BE294565.1         1-38
            39-1869             BC010741.1         1-1831
            1870-1913           AK223478.1         2109-2152
FEATURES             Location/Qualifiers
     source          1..1913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..1913
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="tRNA isopentenyltransferase 1"
                     /db_xref="GeneID:54802"
                     /db_xref="HGNC:HGNC:20286"
                     /db_xref="MIM:617840"
     exon            1..194
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1178
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /EC_number="2.5.1.75"
                     /note="isoform 3 is encoded by transcript variant 17; tRNA
                     isopentenylpyrophosphate transferase; tRNA
                     dimethylallyltransferase, mitochondrial; IPP transferase;
                     isopentenyl-diphosphate:tRNA isopentenyltransferase"
                     /codon_start=1
                     /product="tRNA dimethylallyltransferase isoform 3"
                     /protein_id="NP_001299621.1"
                     /db_xref="CCDS:CCDS81302.1"
                     /db_xref="GeneID:54802"
                     /db_xref="HGNC:HGNC:20286"
                     /db_xref="MIM:617840"
                     /translation="MASVAAARAVPVGSGLRGLQRTLPLVVILGATGTGKSTLALQLG
                     QRLGGEIVSADSMQPQEMGTEKVIDRKVELEKEDGLVLHKRLSQVDPEMAAKLHPHDK
                     RKVARSLQVFEETGISHSEFLHRQHTEEGGGPLGGPLKFSNPCILWLHADQADERLDK
                     RVDDMLAAGLLEELRDFHRRYNQKNVSENSQDYQHGIFQSIGFKEFHEYLITEGKCTL
                     ETSNQLLKKGIEALKQVTKRYARKQNRWVKNRFLSRPGPIVPPVYGLEVSDVSKWEES
                     VLEPALEIVQSFIQGHKPTATPIKMPYNEAENKRSYHLCDLCDRIIIGDREWAAHIKS
                     KSHLNQLKKRRRLDSDAVNTIESQSVSPDHNKEPKEKGSPGQNDQELKCSV"
     exon            195..340
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            341..483
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            484..589
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            590..702
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            703..780
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            781..890
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1008
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1891
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1850..1855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="hexamer: AATAAA"
     regulatory      1854..1859
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="hexamer: AAGAAA"
     polyA_site      1871
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="major polyA site"
     polyA_site      1891
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
ORIGIN      
        1 caagcgcaga ctgccataag atggcgtccg tggcggctgc acgagcagtt cccgtgggca
       61 gtgggctcag gggcctgcaa cggaccctac ctcttgtagt gattctcggg gccacgggca
      121 ccggcaaatc cacgctggcg ttgcagctag gccagcggct cggcggtgag atcgtcagcg
      181 ctgactccat gcagccccag gagatgggca ctgagaaagt gattgaccga aaagtggagc
      241 ttgaaaagga ggatggtctt gtacttcaca aacgcctaag ccaggtggac ccagaaatgg
      301 ctgccaagct gcatccacat gacaaacgca aagtggccag gagcttgcaa gtttttgaag
      361 aaacaggaat ctctcatagt gaatttctcc atcgtcaaca tacggaagaa ggtggtggtc
      421 cccttggagg tcctctgaag ttctctaacc cttgcatcct ttggcttcat gctgaccagg
      481 cagatgagcg cttggataag agggtggatg acatgcttgc tgctgggctc ttggaggaac
      541 taagagattt tcacagacgc tataatcaga agaatgtttc ggaaaatagc caggactatc
      601 aacatggtat cttccaatca attggcttca aggaatttca cgagtacctg atcactgagg
      661 gaaaatgcac actggagact agtaaccagc ttctaaagaa aggtattgag gctctgaaac
      721 aagtaactaa gagatatgcc cggaaacaaa accgatgggt taaaaaccgt tttttgagca
      781 gacctggtcc cattgtcccc cctgtctatg gcttagaggt atctgatgtc tcgaagtggg
      841 aagagtctgt tcttgaacct gctcttgaaa tcgtgcaaag tttcatccag ggccacaagc
      901 ctacagccac tccaataaag atgccataca atgaagctga gaacaagaga agttatcacc
      961 tgtgtgacct ctgtgatcga atcatcattg gggatcgcga atgggcagcg cacataaaat
     1021 ccaaatccca cttgaaccaa ctgaagaaaa gaagaagatt ggactcagat gctgtcaaca
     1081 ccatagaaag tcagagtgtt tccccagacc ataacaaaga acctaaagag aagggatccc
     1141 cagggcagaa tgatcaagag ctgaaatgca gcgtttaaga gacatgtcca gtggcctttg
     1201 gaaaggtggt ggggatccag ttcaggaggg aggggtatgt ttgtctccca gtctgggcaa
     1261 aggagtgcta tgcggaattc tctgcatagc agaaaagctc ccaccatttt cttttgatgt
     1321 ggttttaaag tctcacgttc tctataatag aaacagcagg tcttgtcagc tccttgtgtg
     1381 gctgatgtgt ctggaaatga tgtagttcag gaaagcattt tttttttctt tgaaccttaa
     1441 aggttctatt attaaaagca gcacagattc cacattttta tacatgagga tcttctttgt
     1501 ggtgaatacc aggattgact gcatcccttt aaagaagttt tatgtccctg actctggcta
     1561 aaattatcta atttccagat gcttttgtag atgactgaag tatttgtgag ccacatattg
     1621 ggagttctag atttgagtga atggcaggaa agggccatct ccattgagat gattaagtga
     1681 accaaactag ttctcagaat tctacagaga aggagggaat cagactgagg aagctgtgac
     1741 ataggacttg aagaccaaag actttgaaat ttgcgagctg ctcatgtgtg agttattatc
     1801 actgctgtct ttctattgag ttacaaatct atatttttat tgaagtttaa ataaagaaaa
     1861 aatttacaag agcctctttg atccttaaaa aaaaaaaaaa aaaaaaaaaa aaa
//
