LOCUS       NM_022353               1910 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens O-sialoglycoprotein endopeptidase like 1 (OSGEPL1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_022353
VERSION     NM_022353.3
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 1910)
  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 1910)
  AUTHORS   Zhou,J.B., Wang,Y., Zeng,Q.Y., Meng,S.X., Wang,E.D. and Zhou,X.L.
  TITLE     Molecular basis for t6A modification in human mitochondria
  JOURNAL   Nucleic Acids Res 48 (6), 3181-3194 (2020)
   PUBMED   32047918
REFERENCE   3  (bases 1 to 1910)
  AUTHORS   Lin,H., Miyauchi,K., Harada,T., Okita,R., Takeshita,E., Komaki,H.,
            Fujioka,K., Yagasaki,H., Goto,Y.I., Yanaka,K., Nakagawa,S.,
            Sakaguchi,Y. and Suzuki,T.
  TITLE     CO2-sensitive tRNA modification associated with human mitochondrial
            disease
  JOURNAL   Nat Commun 9 (1), 1875 (2018)
   PUBMED   29760464
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1910)
  AUTHORS   Liao,M., Shi,J., Huang,L., Gao,Y., Tan,A., Wu,C., Lu,Z., Yang,X.,
            Zhang,S., Hu,Y., Qin,X., Li,J., Chen,G., Xu,J., Mo,Z. and Zhang,H.
  TITLE     Genome-wide association study identifies variants in PMS1
            associated with serum ferritin in a Chinese population
  JOURNAL   PLoS One 9 (8), e105844 (2014)
   PUBMED   25162662
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1910)
  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   6  (bases 1 to 1910)
  AUTHORS   Oberto,J., Breuil,N., Hecker,A., Farina,F., Brochier-Armanet,C.,
            Culetto,E. and Forterre,P.
  TITLE     Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD
            protein, is essential for mitochondrial genome maintenance
  JOURNAL   Nucleic Acids Res 37 (16), 5343-5352 (2009)
   PUBMED   19578062
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013468.12 and BC011904.2.
            
            On Nov 23, 2018 this sequence version replaced NM_022353.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011904.2, SRR11853565.17331.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264151.10/ ENSP00000264151.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC013468.12        55180-55204         c
            26-1153             BC011904.2         1-1128
            1154-1154           AC013468.12        45329-45329         c
            1155-1836           BC011904.2         1130-1811
            1837-1882           AC013468.12        39100-39145         c
            1883-1910           BC011904.2         1858-1885
FEATURES             Location/Qualifiers
     source          1..1910
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..1910
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /note="O-sialoglycoprotein endopeptidase like 1"
                     /db_xref="GeneID:64172"
                     /db_xref="HGNC:HGNC:23075"
                     /db_xref="MIM:619634"
     exon            1..108
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            109..349
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1373
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /EC_number="2.3.1.234"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative sialoglycoprotease type 2; OSGEP-like protein 1;
                     probable O-sialoglycoprotein endopeptidase 2; tRNA
                     threonylcarbamoyladenosine biosynthesis protein OSGEPL1;
                     probable tRNA threonylcarbamoyladenosine biosynthesis
                     protein OSGEPL1; O-sialoglycoprotein endopeptidase-like
                     protein 1; tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial; t(6)A37 threonylcarbamoyladenosine
                     biosynthesis protein OSGEPL1; probable tRNA N6-adenosine
                     threonylcarbamoyltransferase, mitochondrial; t(6)A
                     synthase; N6-L-threonylcarbamoyladenine synthase"
                     /codon_start=1
                     /product="tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial isoform 1"
                     /protein_id="NP_071748.2"
                     /db_xref="CCDS:CCDS46472.1"
                     /db_xref="GeneID:64172"
                     /db_xref="HGNC:HGNC:23075"
                     /db_xref="MIM:619634"
                     /translation="MLILTKTAGVFFKPSKRKVYEFLRSFNFHPGTLFLHKIVLGIET
                     SCDDTAAAVVDETGNVLGEAIHSQTEVHLKTGGIVPPAAQQLHRENIQRIVQEALSAS
                     GVSPSDLSAIATTIKPGLALSLGVGLSFSLQLVGQLKKPFIPIHHMEAHALTIRLTNK
                     VEFPFLVLLISGGHCLLALVQGVSDFLLLGKSLDIAPGDMLDKVARRLSLIKHPECST
                     MSGGKAIEHLAKQGNRFHFDIKPPLHHAKNCDFSFTGLQHVTDKIIMKKEKEEGIEKG
                     QILSSAADIAATVQHTMACHLVKRTHRAILFCKQRDLLPQNNAVLVASGGVASNFYIR
                     RALEILTNATQCTLLCPPPRLCTDNGIMIAWNGIERLRAGLGILHDIEGIRYEPKCPL
                     GVDISKEVGEASIKVPQLKMEI"
     exon            350..737
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            738..942
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1091
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1222
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1294
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1401
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1910
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1704..1709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /note="hexamer: AATAAA"
     polyA_site      1727
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /note="major polyA site"
     regulatory      1888..1893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /note="hexamer: AATAAA"
     polyA_site      1910
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /note="major polyA site"
ORIGIN      
        1 atcacttccg ggcgccaggt tcgggctttc tcctgcagcg ataagggcag tcgacagtct
       61 ttagtaggga aaggagacaa gtgctagcta ctgccgccca agtggaagga attatctata
      121 gagtaagtat gctaatcttg actaagactg caggagtttt ttttaaacca tcaaaaagga
      181 aagtttatga atttttaaga agttttaatt ttcatcctgg aacactattt cttcataaaa
      241 tagtattggg aattgaaact agttgtgatg atacagcagc tgctgtggtg gatgaaactg
      301 gaaatgtgtt gggagaagca atacattccc aaactgaagt tcatttaaaa acaggtggga
      361 ttgttcctcc agcagctcaa cagcttcaca gagaaaatat tcaacgaata gtacaagaag
      421 ctctttctgc cagtggagtc tctccaagtg acctctcagc aattgcaact accataaaac
      481 caggacttgc tttaagcctg ggagtgggct tatcatttag cttacagctg gtaggacagt
      541 taaaaaagcc attcattccc attcatcata tggaggctca tgcacttact attaggttga
      601 ccaataaagt agaatttcct tttttagttc ttttgatttc tggaggtcac tgtctgttgg
      661 cattagttca aggagtttca gattttctgc ttcttggaaa gtctttggac atagcaccag
      721 gtgacatgct tgacaaggtg gcaagaagac tttctttaat aaaacatcca gagtgctcca
      781 ccatgagtgg tgggaaagcc atagaacatt tggccaaaca aggaaataga tttcattttg
      841 acatcaaacc tcccttgcat catgctaaaa attgtgattt ttcttttact ggacttcaac
      901 acgttactga taaaataata atgaaaaagg aaaaagagga aggtattgag aaggggcaaa
      961 tcctgtcttc agcagcagac attgctgcca cagtacagca cacaatggca tgtcatcttg
     1021 tgaaaagaac acatcgggct attctgtttt gtaagcagag agacttgtta cctcaaaata
     1081 atgcagtact ggttgcatct ggtggtgtcg caagtaactt ctatatccgc agagctctgg
     1141 aaattttaac aaatgcaaca cagtgcactt tgttgtgtcc tcctcccaga ctatgcactg
     1201 ataatggcat tatgattgca tggaatggta ttgaaagact acgtgctggc ttgggcattt
     1261 tacatgacat agaaggcatc cgctatgaac caaaatgtcc tcttggagta gacatatcaa
     1321 aagaagttgg agaagcttcc ataaaagtac cacaattaaa aatggagata tgatttctgc
     1381 tgttcaaaaa agtccctaaa gagacaggct cttgccatgt tgcccgggct ggtcctgaac
     1441 tgctgaattc aagtgatcct cccaccttgg cctccagaag tgctgggatt atgggtgtga
     1501 gccaccatgc ctagccaaaa tgtttcttaa ggtatacatt ttgggtctta gaagacttat
     1561 acatttgtaa tatttattac taaatatctc aaagtattac aataaatgtt accatgtgag
     1621 ctactttgaa tcaggcttct tgcacaccaa tttaaaaatg ttaactcttg atatatacac
     1681 tagttatacc actcatgtca gtcaataaat tttaaggttt aagtgcaggc ctttgtttac
     1741 agaaatccta attttttgaa accataactc tgacctgaca ctaaattcct gtagacatgc
     1801 taaggaaaat ctgcttagta tcgagatcaa gaactttcat tcaaaaagat tattcagtta
     1861 tgttatttgc atattaccat tattaaaaat aaaaaaattt ttaaaagatg
//
