LOCUS       NM_017646               5051 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), transcript
            variant 1, mRNA.
ACCESSION   NM_017646
VERSION     NM_017646.6
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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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 5051)
  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, AY702933.1,
            AK223478.1 and AL033527.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_017646.5.
            
            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 (1) encodes the longest functional
            protein (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 :: SRR1803617.25765.1,
                                           SRR1660805.12771.1 [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
            MANE Ensembl match                 :: ENST00000316891.10/
                                                  ENSP00000321810.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                BE294565.1         8-77
            71-1447             AY702933.1         1-1377
            1448-2130           AK223478.1         1448-2130
            2131-5051           AL033527.26        78640-81560         c
FEATURES             Location/Qualifiers
     source          1..5051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..5051
                     /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..187
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1417
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /EC_number="2.5.1.75"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; tRNA isopentenylpyrophosphate transferase; tRNA
                     dimethylallyltransferase, mitochondrial; IPP transferase;
                     isopentenyl-diphosphate:tRNA isopentenyltransferase"
                     /codon_start=1
                     /product="tRNA dimethylallyltransferase isoform 1
                     precursor"
                     /protein_id="NP_060116.2"
                     /db_xref="CCDS:CCDS30681.1"
                     /db_xref="GeneID:54802"
                     /db_xref="HGNC:HGNC:20286"
                     /db_xref="MIM:617840"
                     /translation="MASVAAARAVPVGSGLRGLQRTLPLVVILGATGTGKSTLALQLG
                     QRLGGEIVSADSMQVYEGLDIITNKVSAQEQRICRHHMISFVDPLVTNYTVVDFRNRA
                     TALIEDIFARDKIPIVVGGTNYYIESLLWKVLVNTKPQEMGTEKVIDRKVELEKEDGL
                     VLHKRLSQVDPEMAAKLHPHDKRKVARSLQVFEETGISHSEFLHRQHTEEGGGPLGGP
                     LKFSNPCILWLHADQAVLDERLDKRVDDMLAAGLLEELRDFHRRYNQKNVSENSQDYQ
                     HGIFQSIGFKEFHEYLITEGKCTLETSNQLLKKGIEALKQVTKRYARKQNRWVKNRFL
                     SRPGPIVPPVYGLEVSDVSKWEESVLEPALEIVQSFIQGHKPTATPIKMPYNEAENKR
                     SYHLCDLCDRIIIGDREWAAHIKSKSHLNQLKKRRRLDSDAVNTIESQSVSPDHNKEP
                     KEKGSPGQNDQELKCSV"
     exon            188..328
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            329..427
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            428..573
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            574..716
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            717..828
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            829..941
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1019
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1129
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1247
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..5051
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2089..2094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="hexamer: AATAAA"
     regulatory      2093..2098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="hexamer: AAGAAA"
     polyA_site      2110
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="major polyA site"
     polyA_site      2130
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
     regulatory      2907..2912
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
                     /note="hexamer: AATAAA"
     polyA_site      2929
                     /gene="TRIT1"
                     /gene_synonym="COXPD35; GRO1; hGRO1; IPPT; IPT; IPTase;
                     MOD5"
ORIGIN      
        1 agactgccat aagatggcgt ccgtggcggc tgcacgagca gttcccgtgg gcagtgggct
       61 caggggcctg caacggaccc tacctcttgt agtgattctc ggggccacgg gcaccggcaa
      121 atccacgctg gcgttgcagc taggccagcg gctcggcggt gagatcgtca gcgctgactc
      181 catgcaggtc tatgaaggcc tagacatcat caccaacaag gtttctgccc aagagcagag
      241 aatctgccgg caccacatga tcagctttgt ggatcctctt gtgaccaatt acacagtggt
      301 ggacttcaga aatagagcaa ctgctctgat tgaagatata tttgcccgag acaaaattcc
      361 tattgttgtg ggaggaacca attattacat tgaatctctg ctctggaaag ttcttgtcaa
      421 taccaagccc caggagatgg gcactgagaa agtgattgac cgaaaagtgg agcttgaaaa
      481 ggaggatggt cttgtacttc acaaacgcct aagccaggtg gacccagaaa tggctgccaa
      541 gctgcatcca catgacaaac gcaaagtggc caggagcttg caagtttttg aagaaacagg
      601 aatctctcat agtgaatttc tccatcgtca acatacggaa gaaggtggtg gtccccttgg
      661 aggtcctctg aagttctcta acccttgcat cctttggctt catgctgacc aggcagttct
      721 agatgagcgc ttggataaga gggtggatga catgcttgct gctgggctct tggaggaact
      781 aagagatttt cacagacgct ataatcagaa gaatgtttcg gaaaatagcc aggactatca
      841 acatggtatc ttccaatcaa ttggcttcaa ggaatttcac gagtacctga tcactgaggg
      901 aaaatgcaca ctggagacta gtaaccagct tctaaagaaa ggtattgagg ctctgaaaca
      961 agtaactaag agatatgccc ggaaacaaaa ccgatgggtt aaaaaccgtt ttttgagcag
     1021 acctggtccc attgtccccc ctgtctatgg cttagaggta tctgatgtct cgaagtggga
     1081 agagtctgtt cttgaacctg ctcttgaaat cgtgcaaagt ttcatccagg gccacaagcc
     1141 tacagccact ccaataaaga tgccatacaa tgaagctgag aacaagagaa gttatcacct
     1201 gtgtgacctc tgtgatcgaa tcatcattgg ggatcgcgaa tgggcagcgc acataaaatc
     1261 caaatcccac ttgaaccaac tgaagaaaag aagaagattg gactcagatg ctgtcaacac
     1321 catagaaagt cagagtgttt ccccagacca taacaaagaa cctaaagaga agggatcccc
     1381 agggcagaat gatcaagagc tgaaatgcag cgtttaagag acatgtccag tggcctttgg
     1441 aaaggtggtg gggatccagt tcaggaggga ggggtatgtt tgtctcccag tctgggcaaa
     1501 ggagtgctat gcggaattct ctgcatagca gaaaagctcc caccattttc ttttgatgtg
     1561 gttttaaagt ctcacgttct ctataataga aacagcaggt cttgtcagct ccttgtgtgg
     1621 ctgatgtgtc tggaaatgat gtagttcagg aaagcatttt ttttttcttt gaaccttaaa
     1681 ggttctatta ttaaaagcag cacagattcc acatttttat acatgaggat cttctttgtg
     1741 gtgaatacca ggattgactg catcccttta aagaagtttt atgtccctga ctctggctaa
     1801 aattatctaa tttccagatg cttttgtaga tgactgaagt atttgtgagc cacatattgg
     1861 gagttctaga tttgagtgaa tggcaggaaa gggccatctc cattgagatg attaagtgaa
     1921 ccaaactagt tctcagaatt ctacagagaa ggagggaatc agactgagga agctgtgaca
     1981 taggacttga agaccaaaga ctttgaaatt tgcgagctgc tcatgtgtga gttattatca
     2041 ctgctgtctt tctattgagt tacaaatcta tatttttatt gaagtttaaa taaagaaaaa
     2101 atttacaaga gcctctttga tccttaaaaa gatatacaag tccatgccta gtttatacac
     2161 agtatgctct gttatcaatg tgatagcttt ttctcaaatt tgacactttt tgtagatcat
     2221 gctgtctgtt catttatgta gcgggtgttt atttaacacg ttatagtcct tgaagacatc
     2281 tagagagggt cttttattgg agatctatta cttccaattg aagccctctt tctggagtga
     2341 cctgagctgc cagcaatgtt aaacagatac ttatttatat ataacatcaa atatagcatt
     2401 tttagggtat aattcagcag cattaactac attcacaatg ttgtgcaatc gttgccacta
     2461 tttccaaaac gtttttgtca ctccaaacaa actttgtgcc ctttaagcgt taactcccca
     2521 ttcaaataca ttttgtttgt gcagaatcta ctctatgaga ggccctgaat taggctaaag
     2581 ggaatgcaga gatgagatgt ggttcttgcc ttcagggagc ttataaataa ttgcatgtgt
     2641 acacaaacac caatccaggc aagacagtat caaaggccgt aagagctgtg tagaatttca
     2701 gtttagaagg aagggaaggg atcatggaag gaggagcatt tctgctgcac cttgaaaagc
     2761 aattcttgat aaatgttttg tttcctatgc atataagact tcatagagga gaaggtagag
     2821 taaaaaaact atctaacttg attgaccttt ttaaacagtg ctgaattcca gagcctcacc
     2881 cacttttaac tgatttgaat ctcaaaaata aatttattct ctgggcaaag aagtttatta
     2941 actactttag gacctaacaa ggtgggaagc cacatcttcc cggtgggagt ggagatgagt
     3001 acttactgtg agccaagcag tgccaagtcg tttttatatg ttatcttctc acacagccct
     3061 gggagggaga tgctgtttcc tttgctgtta accagggagg aaactaaggc tcagcaatgg
     3121 agtacagcta gcaagcggta gagctggaat tgaggtgagg ctggtagact caagctatta
     3181 agcactgtgt taagctggca gtttgtaggg aagaaccttt agtttctctg aaatattctt
     3241 cgttcaagtt gctaagtatg ttttaaagcc taaaaaggtt tcagtagaca agcaggaaaa
     3301 actagtttta ataattgtac gtcaaaaagc ttttaatcct tccatctgaa atacctggag
     3361 cagtaacttc tcattgaact cattgttatc tctatggcaa ttggaaatca ggcctttttt
     3421 accaaaaaaa aagtgtctaa tatttatgaa gcacttacta agtgtaaggc agtgtggttg
     3481 agcccactgt tcatattctt agaaattgta aattcagcca aatgaaattc ctttatcagc
     3541 agcaaagagc ctgggaaagg cagaacactc actagaaatc tgcctggtgc tctggtctga
     3601 agcattgccc tgagtagatt tccccttttg tgcctgctcc cctatgaatg acttcgctgt
     3661 tgagtgtagg gaaggaaagt aatttgtctt gtggtggtcg taaatgtaga gatgaaagaa
     3721 ttctttatct cttgtatgga tggggaaact gaggcctaaa acatggatgt tccagtcaca
     3781 gagcaaggca aagctgggac aaaccttaga tcacctttct tactctatta ctaaatctca
     3841 taccaaatct catttgagag ctgaaaagta ccatagagct ttgggctatt tgctcagcct
     3901 ggagtgagaa tgaggaatgc cattttgtac catctggcca tagcaatccc aaggcaagca
     3961 gagccctcca gtccaggtat ccagagcctc cagtccatca caccagcagt gctatctaaa
     4021 tggctttggc aattaattcc aatactcagt gagctattag gttcatctgc ttctgtcagt
     4081 aaaaatcttg attaggcttt agatacttct cacagttcag gcagtgctgt tgtaagtggg
     4141 tagaaagtac tttgattctg aagagagatc tagacttgaa aatactttgc ttgattctta
     4201 gggctaagca agagaacagc tcatctgtat tccaggaata tggcttgatc cttcctaact
     4261 ctcagtaatt ttttgtcctc tcttagctct ctttagttcc aaagaggatt tttttgctta
     4321 aaacaaaaca aaacacccag tataacatta aaaaataaca gtccgggagt ggtggctcac
     4381 gcctgtaatc ccaacgcttt gggtaactga ggcagaagga tcactcaagc ctaggagttt
     4441 gagaccagcc taggcaacat ggtgagaccc agtcagcaca aatatataca tacatacata
     4501 cttacatata tatatatgta tgcatgccgg gtatggtggg tcatgcctat agtcccagct
     4561 acgtggaagg ctcaggtagg aggatggctt gggcctggga gattgaggct tcagtgaaac
     4621 atgatcatgc cactgcattc cagcctgggt ggcagagcaa gaccatgttg ctcaaaaaga
     4681 aaataaaact aacaaccccc tcccccaaac acacatgcat gaaatcaacc ttttatgaat
     4741 gcagtgactt gtcaatatcc ctagcaccta gacacagtca aatatttgtt gaatcaattg
     4801 catgaaagca taaaaactaa gtaggtctct acataagtga tctgcttcaa ttgttaaata
     4861 ctttttaacc aggatgaaga aattttggga tagccaccag caggaatttc tgtatttgat
     4921 tatcacctac ttgggcagtt aaggctgttt tctaaaatga tggctaactg gttatttgta
     4981 aagctactct gaatgcttac aaaggaagct gcatgtttgt attagttcag gtaaaaggct
     5041 aagttgctat a
//
