LOCUS       NM_022734               1539 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methyltransferase like 17 (METTL17), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_022734
VERSION     NM_022734.3
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 1539)
  AUTHORS   Li,H., Yu,K., Hu,H., Zhang,X., Zeng,S., Li,J., Dong,X., Deng,X.,
            Zhang,J. and Zhang,Y.
  TITLE     METTL17 coordinates ferroptosis and tumorigenesis by regulating
            mitochondrial translation in colorectal cancer
  JOURNAL   Redox Biol 71, 103087 (2024)
   PUBMED   38377789
  REMARK    GeneRIF: METTL17 coordinates ferroptosis and tumorigenesis by
            regulating mitochondrial translation in colorectal cancer.
REFERENCE   2  (bases 1 to 1539)
  AUTHORS   Ast,T., Itoh,Y., Sadre,S., McCoy,J.G., Namkoong,G., Wengrod,J.C.,
            Chicherin,I., Joshi,P.R., Kamenski,P., Suess,D.L.M., Amunts,A. and
            Mootha,V.K.
  TITLE     METTL17 is an Fe-S cluster checkpoint for mitochondrial translation
  JOURNAL   Mol Cell 84 (2), 359-374 (2024)
   PUBMED   38199006
REFERENCE   3  (bases 1 to 1539)
  AUTHORS   Mashkovskaia,A.V., Mariasina,S.S., Serebryakova,M.V.,
            Rubtsova,M.P., Dontsova,O.A. and Sergiev,P.V.
  TITLE     Testing a Hypothesis of 12S rRNA Methylation by Putative METTL17
            Methyltransferase
  JOURNAL   Acta Naturae 15 (4), 75-82 (2023)
   PUBMED   38234605
REFERENCE   4  (bases 1 to 1539)
  AUTHORS   Harper,N.J., Burnside,C. and Klinge,S.
  TITLE     Principles of mitoribosomal small subunit assembly in eukaryotes
  JOURNAL   Nature 614 (7946), 175-181 (2023)
   PUBMED   36482135
REFERENCE   5  (bases 1 to 1539)
  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   6  (bases 1 to 1539)
  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 1539)
  AUTHORS   Smits,P., Rodenburg,R.J., Smeitink,J.A. and van den Heuvel,L.P.
  TITLE     Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1
            and METT11D1) in patients with combined oxidative phosphorylation
            system deficiencies
  JOURNAL   J Inherit Metab Dis 33 Suppl 3, S13-S19 (2010)
   PUBMED   24137763
  REMARK    GeneRIF: METT11D1 mutations could not explain phenotype of patients
            with combined oxidative phosphorylation system deficiencies.
REFERENCE   8  (bases 1 to 1539)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1539)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   10 (bases 1 to 1539)
  AUTHORS   Saveanu,C., Fromont-Racine,M., Harington,A., Ricard,F., Namane,A.
            and Jacquier,A.
  TITLE     Identification of 12 new yeast mitochondrial ribosomal proteins
            including 6 that have no prokaryotic homologues
  JOURNAL   J Biol Chem 276 (19), 15861-15867 (2001)
   PUBMED   11278769
  REMARK    GeneRIF: Possible component of the small subunit of the
            mitochondrial ribosome, has similarity to yeast Rsm22 (Ykl155c)
            mitochondrial ribosomal protein.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355922.4, BC005053.1 and AK024512.1.
            
            On Jun 2, 2019 this sequence version replaced NM_022734.2.
            
            Transcript Variant: This variant (2) lacks a segment in the 3'
            coding region, compared to variant 1, that causes a frameshift. The
            resulting protein (isoform 2) has a shorter and distinct
            C-terminus, compared to 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 :: AK024512.1, SRR3476690.211343.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339374.11/ ENSP00000343041.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AL355922.4         13470-13476         c
            8-1288              BC005053.1         1-1281
            1289-1539           AK024512.1         1289-1539
FEATURES             Location/Qualifiers
     source          1..1539
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1539
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="methyltransferase like 17"
                     /db_xref="GeneID:64745"
                     /db_xref="HGNC:HGNC:19280"
                     /db_xref="MIM:616091"
     exon            1..98
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1394
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; methyltransferase 11 domain containing 1;
                     protein RSM22 homolog, mitochondrial;
                     methyltransferase-like protein 17, mitochondrial; false
                     p73 target gene protein; methyltransferase 11
                     domain-containing protein 1; ribosome assembly protein
                     METTL17, mitochondrial"
                     /codon_start=1
                     /product="ribosome assembly protein METTL17, mitochondrial
                     isoform 2 precursor"
                     /protein_id="NP_073571.1"
                     /db_xref="CCDS:CCDS9562.1"
                     /db_xref="GeneID:64745"
                     /db_xref="HGNC:HGNC:19280"
                     /db_xref="MIM:616091"
                     /translation="MAAALKCLLTLGRWCPGLGVAPQARALAALVPGVTQVDNKSGFL
                     QKRPHRQHPGILKLPHVRLPQALANGAQLLLLGSAGPTMENQVQTLTSYLWSRHLPVE
                     PEELQRRARHLEKKFLENPDLSQTEEKLRGAVLHALRKTTYHWQELSYTEGLSLVYMA
                     ARLDGGFAAVSRAFHEIRARNPAFQPQTLMDFGSGTGSVTWAAHSIWGQSLREYMCVD
                     RSAAMLVLAEKLLKGGSESGEPYIPGVFFRQFLPVSPKVQFDVVVSAFSLSELPSKAD
                     RTEVVQTLWRKTGHFLVLVENGTKAGHSLLMDARDLVLKGKEKSPLDPRPGFVFAPCP
                     HELPCPQLTNLACSFSQAYHPIPFSWNKKPKEEKFSMVILARGSPEEAHRWPRITQPV
                     LKRPRHVHCHLCCPDGHMQHAVLTARRHGRDLYRCARVSSWGDLLPVLTPSAFPPSTA
                     QDPSES"
     exon            99..252
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            253..387
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..469
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            470..551
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            552..625
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            626..720
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            721..791
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            792..899
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            900..968
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1019
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1103
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1288
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1539
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="hexamer: AATAAT"
     regulatory      1518..1523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="hexamer: AATAAA"
     polyA_site      1531
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="major polyA site"
     polyA_site      1539
                     /gene="METTL17"
                     /gene_synonym="METT11D1"
                     /note="major polyA site"
ORIGIN      
        1 gtttccggtt cgcctccgga gccatggcgg cggcactgaa gtgtctactg acattaggaa
       61 gatggtgccc cggccttgga gtggctcccc aggcccgggc gctcgccgcc ttagtacccg
      121 gagtgaccca ggtagataac aagtccggtt tcctgcagaa gaggcctcat cgccagcacc
      181 ctggcatcct aaagctgccg cacgtgcggc tgccacaggc actggctaac ggtgcccagt
      241 tattgctact tgggagcgct gggcccacta tggagaatca ggtgcaaaca ctgaccagtt
      301 atctctggag cagacatttg cctgtagagc cagaggagtt gcaaagacgg gctaggcatc
      361 ttgagaaaaa attcctggaa aacccagact tatctcagac agaggagaaa cttcgtggag
      421 cagtgctaca cgcactacgt aaaactacct accattggca agaactgagc tacactgagg
      481 gactgagcct ggtgtatatg gcagcaagac tggatggtgg ctttgcagca gtctccagag
      541 cattccatga gatccgggct cgaaatccag catttcagcc acaaactttg atggactttg
      601 gctcaggtac tggttctgtc acctgggctg ctcacagtat ttggggccag agcctacgtg
      661 aatatatgtg tgtggacaga tcagctgcca tgttggtttt ggcagaaaaa ctactgaaag
      721 gtggttcaga atctggggag ccttatattc caggtgtctt tttcagacag tttctacctg
      781 tatcacccaa ggtgcagttt gatgtagtag tgtcagcttt ttccttaagt gaactgccca
      841 gcaaggctga ccgcactgag gtagttcaaa ccttatggcg taagacaggt catttcctgg
      901 tactggtgga gaatggaaca aaagctgggc acagccttct catggatgcc agggatctgg
      961 tccttaaggg aaaagagaag tcacctttgg accctcgacc tggttttgtc tttgccccgt
     1021 gtccccatga actcccttgt ccccagttga ccaacctggc ctgtagcttc tcacaggcgt
     1081 accatcccat ccccttcagc tggaacaaga aaccaaagga agaaaagttc tctatggtga
     1141 tccttgctcg ggggtctcca gaggaggctc atcgctggcc ccgtatcact cagcctgtcc
     1201 ttaaacggcc tcgccatgtg cattgtcact tgtgctgtcc agatgggcac atgcagcatg
     1261 ctgtgctcac agcccgccgg cacggcaggg atttgtatcg ttgtgcccgt gtcagctcct
     1321 ggggagatct tttacctgtg cttactccgt ctgcgtttcc tccatctacg gctcaggatc
     1381 cctctgagag ttgatgagga tgtgtaacaa gtattttctt ctatcgtgcc tgccagggct
     1441 gaagctgcct ggtatccagg aggggaatgc tggtatcccc atatgtctgt gtttgtttga
     1501 gatttttaat aataaataat aaatttttga agaatggaa
//
