LOCUS       NM_001314025             739 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ybeY metalloendoribonuclease (YBEY), transcript
            variant 6, mRNA.
ACCESSION   NM_001314025 XM_005261155
VERSION     NM_001314025.2
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 739)
  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 739)
  AUTHORS   D'Souza,A.R., Van Haute,L., Powell,C.A., Mutti,C.D., Palenikova,P.,
            Rebelo-Guiomar,P., Rorbach,J. and Minczuk,M.
  TITLE     YbeY is required for ribosome small subunit assembly and tRNA
            processing in human mitochondria
  JOURNAL   Nucleic Acids Res 49 (10), 5798-5812 (2021)
   PUBMED   34037799
  REMARK    GeneRIF: YbeY is required for ribosome small subunit assembly and
            tRNA processing in human mitochondria.
REFERENCE   3  (bases 1 to 739)
  AUTHORS   Liao,Z., Schelcher,C. and Smirnov,A.
  TITLE     YbeY, eminence grise of ribosome biogenesis
  JOURNAL   Biochem Soc Trans 49 (2), 727-745 (2021)
   PUBMED   33929506
  REMARK    GeneRIF: YbeY, eminence grise of ribosome biogenesis.
            Review article
REFERENCE   4  (bases 1 to 739)
  AUTHORS   Summer,S., Smirnova,A., Gabriele,A., Toth,U., Fasemore,A.M.,
            Forstner,K.U., Kuhn,L., Chicher,J., Hammann,P., Mitulovic,G.,
            Entelis,N., Tarassov,I., Rossmanith,W. and Smirnov,A.
  TITLE     YBEY is an essential biogenesis factor for mitochondrial ribosomes
  JOURNAL   Nucleic Acids Res 48 (17), 9762-9786 (2020)
   PUBMED   32182356
  REMARK    GeneRIF: YBEY is an essential biogenesis factor for mitochondrial
            ribosomes.
REFERENCE   5  (bases 1 to 739)
  AUTHORS   Ghosal,A., Kohrer,C., Babu,V.M.P., Yamanaka,K., Davies,B.W.,
            Jacob,A.I., Ferullo,D.J., Gruber,C.C., Vercruysse,M. and
            Walker,G.C.
  TITLE     C21orf57 is a human homologue of bacterial YbeY proteins
  JOURNAL   Biochem Biophys Res Commun 484 (3), 612-617 (2017)
   PUBMED   28153719
  REMARK    GeneRIF: This observation suggests that the function of HuYbeY in
            human cells is likely regulated through specific interactions with
            partner proteins similarly to the way YbeY is regulated in
            bacteria.
REFERENCE   6  (bases 1 to 739)
  AUTHORS   Uhlen,M., Oksvold,P., Algenas,C., Hamsten,C., Fagerberg,L.,
            Klevebring,D., Lundberg,E., Odeberg,J., Ponten,F., Kondo,T. and
            Sivertsson,A.
  TITLE     Antibody-based protein profiling of the human chromosome 21
  JOURNAL   Mol Cell Proteomics 11 (3), M111.013458 (2012)
   PUBMED   22042635
REFERENCE   7  (bases 1 to 739)
  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   8  (bases 1 to 739)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 739)
  AUTHORS   Reymond,A., Friedli,M., Henrichsen,C.N., Chapot,F., Deutsch,S.,
            Ucla,C., Rossier,C., Lyle,R., Guipponi,M. and Antonarakis,S.E.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC384882.1, AK128875.1,
            AP000471.2 and AY040874.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001314025.1.
            
            Summary: This gene encodes a highly conserved metalloprotein. A
            similar protein in bacteria acts as an endoribonuclease, and is
            thought to function in ribosomal RNA maturation and ribosome
            assembly. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (6) differs in the 5' UTR compared
            to variant 1. Variants 1 and 6 encode the same 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI838261.1, SRR5189667.25827.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397701.9/ ENSP00000380813.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                DC384882.1         13-66
            55-470              AK128875.1         1-416
            471-471             AP000471.2         28307-28307
            472-566             AK128875.1         418-512
            567-690             AP000471.2         29711-29834
            691-710             AK128875.1         637-656
            711-711             AY040874.1         862-862
            712-739             AP000471.2         29856-29883
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..739
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /note="ybeY metalloendoribonuclease"
                     /db_xref="GeneID:54059"
                     /db_xref="HGNC:HGNC:1299"
                     /db_xref="MIM:617461"
     exon            1..74
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            75..328
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..622
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /note="isoform 1 is encoded by transcript variant 6;
                     putative metalloprotease C21orf57; rRNA maturation factor
                     homolog; putative ribonuclease; endoribonuclease YbeY;
                     ybeY metallopeptidase (putative)"
                     /codon_start=1
                     /product="endoribonuclease YbeY isoform 1"
                     /protein_id="NP_001300954.1"
                     /db_xref="CCDS:CCDS33591.1"
                     /db_xref="GeneID:54059"
                     /db_xref="HGNC:HGNC:1299"
                     /db_xref="MIM:617461"
                     /translation="MSLVIRNLQRVIPIRRAPLRSKIEIVRRILGVQKFDLGIICVDN
                     KNIQHINRIYRDRNVPTDVLSFPFHEHLKAGEFPQPDFPDDYNLGDIFLGVEYIFHQC
                     KENEDYNDVLTVTATHGLCHLLGFTHGTEAEWQQMFQKEKAVLDELGRRTGTRLQPLT
                     RGLFGGS"
     exon            329..457
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            458..526
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            527..739
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      691..696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /note="hexamer: AATAAA"
     regulatory      702..707
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /note="hexamer: AATGAA"
     polyA_site      711
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /note="major polyA site"
     polyA_site      739
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
ORIGIN      
        1 aacccgctct gtggcggggc ttccggtcgg gagggtccgc ccgctctcgc gtcctttgct
       61 gggtccagac accggttccg ttgcaaacat ttttaaaggg ctggttattc ttcctgaaat
      121 gagtttggtg attagaaatc tgcagcgagt catccccatc aggagagcgc cacttcgcag
      181 taagatcgag attgtaagga ggattttagg agtgcagaaa tttgacctgg ggatcatctg
      241 tgttgacaac aagaatattc agcacattaa tagaatctac agagatagaa atgtcccaac
      301 cgatgtgctt tcttttccat ttcatgagca tctgaaagca ggtgaatttc cccagcctga
      361 ttttccagat gactacaatt tgggagacat tttcctagga gtggagtata tcttccatca
      421 gtgtaaagaa aatgaagatt acaatgacgt cctgactgtg acggccaccc acggactctg
      481 tcacttgctg ggattcacac acggcacgga ggcagagtgg cagcagatgt tccagaagga
      541 gaaggcggtg ctggacgagc tgggccgacg cacggggacc cggctgcagc ccctgacccg
      601 gggcctcttc ggagggagct gagggccgcg ttccttctga aagcgggacg cgggaggggt
      661 ggaggctgcg gggagccggg gtcgcacacg aataaataac gaatgaacgt acgaggggaa
      721 cctcctctta tttccttca
//
