LOCUS       NM_000977               2187 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ribosomal protein L13 (RPL13), transcript variant 1,
            mRNA.
ACCESSION   NM_000977
VERSION     NM_000977.4
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 2187)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Costantini,A., Alm,J.J., Tonelli,F., Valta,H., Huber,C., Tran,A.N.,
            Daponte,V., Kirova,N., Kwon,Y.U., Bae,J.Y., Chung,W.Y., Tan,S.,
            Sznajer,Y., Nishimura,G., Nareoja,T., Warren,A.J.,
            Cormier-Daire,V., Kim,O.H., Forlino,A., Cho,T.J. and Makitie,O.
  TITLE     Novel RPL13 Variants and Variable Clinical Expressivity in a Human
            Ribosomopathy With Spondyloepimetaphyseal Dysplasia
  JOURNAL   J Bone Miner Res 36 (2), 283-297 (2021)
   PUBMED   32916022
  REMARK    GeneRIF: Novel RPL13 Variants and Variable Clinical Expressivity in
            a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Liang,X., Zuo,M.Q., Zhang,Y., Li,N., Ma,C., Dong,M.Q. and Gao,N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before
            and after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Le Caignec,C., Ory,B., Lamoureux,F., O'Donohue,M.F., Orgebin,E.,
            Lindenbaum,P., Teletchea,S., Saby,M., Hurst,A., Nelson,K.,
            Gilbert,S.R., Wilnai,Y., Zeitlin,L., Segev,E., Tesfaye,R.,
            Nizon,M., Cogne,B., Bezieau,S., Geoffroy,L., Hamel,A.,
            Mayrargue,E., de Courtivron,B., Decock-Giraudaud,A., Charrier,C.,
            Pichon,O., Retiere,C., Redon,R., Pepler,A., McWalter,K., Da
            Costa,L., Toutain,A., Gleizes,P.E., Baud'huin,M. and Isidor,B.
  TITLE     RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe
            Short Stature
  JOURNAL   Am J Hum Genet 105 (5), 1040-1047 (2019)
   PUBMED   31630789
  REMARK    GeneRIF: The identified RPL13 variants cause a human ribosomopathy
            defined by a rare skeletal dysplasia.
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Kenmochi,N., Kawaguchi,T., Rozen,S., Davis,E., Goodman,N.,
            Hudson,T.J., Tanaka,T. and Page,D.C.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Yaseen,N.R. and Blobel,G.
  TITLE     Cloning and characterization of human karyopherin beta3
  JOURNAL   Proc Natl Acad Sci U S A 94 (9), 4451-4456 (1997)
   PUBMED   9114010
REFERENCE   8  (bases 1 to 2187)
  AUTHORS   Wool,I.G., Chan,Y.L. and Gluck,A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Kato,S., Sekine,S., Oh,S.W., Kim,N.S., Umezawa,Y., Abe,N.,
            Yokoyama-Kobayashi,M. and Aoki,T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10 (bases 1 to 2187)
  AUTHORS   Adams,S.M., Helps,N.R., Sharp,M.G., Brammar,W.J., Walker,R.A. and
            Varley,J.M.
  TITLE     Isolation and characterization of a novel gene with differential
            expression in benign and malignant human breast tumours
  JOURNAL   Hum Mol Genet 1 (2), 91-96 (1992)
   PUBMED   1301162
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC106058.1 and AC092123.4.
            
            On Feb 5, 2020 this sequence version replaced NM_000977.3.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L13E family of ribosomal proteins. It is located in the
            cytoplasm. This gene is expressed at significantly higher levels in
            benign breast lesions than in breast carcinomas. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            found for this gene. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) is the predominant transcript.
            It encodes the longest 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.
            
            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 :: AK290893.1, AK127579.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311528.10/ ENSP00000307889.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-711               BC106058.1         26-736
            712-2187            AC092123.4         21199-22674         c
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2187
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /note="ribosomal protein L13"
                     /db_xref="GeneID:6137"
                     /db_xref="HGNC:HGNC:10303"
                     /db_xref="MIM:113703"
     exon            1..31
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     exon            32..155
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..687
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /EC_number="3.6.5.3"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L13; breast basic conserved protein 1;
                     large ribosomal subunit protein eL13; breast basic
                     conserved 1"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL13 isoform 1"
                     /protein_id="NP_000968.2"
                     /db_xref="CCDS:CCDS10979.1"
                     /db_xref="GeneID:6137"
                     /db_xref="HGNC:HGNC:10303"
                     /db_xref="MIM:113703"
                     /translation="MAPSRNGMVLKPHFHKDWQRRVATWFNQPARKIRRRKARQAKAR
                     RIAPRPASGPIRPIVRCPTVRYHTKVRAGRGFSLEELRVAGIHKKVARTIGISVDPRR
                     RNKSTESLQANVQRLKEYRSKLILFPRKPSAPKKGDSSAEELKLATQLTGPVMPVRNV
                     YKKEKARVITEEEKNFKAFASLRMARANARLFGIRAKRAKEAAEQDVEKKK"
     exon            156..297
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     exon            298..471
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     exon            472..528
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     exon            529..2187
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /note="hexamer: AATAAA"
     polyA_site      711
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /note="major polyA site"
     polyA_site      940
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
     regulatory      1067..1072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /note="hexamer: AATAAA"
     polyA_site      1085
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
     polyA_site      1992
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
     regulatory      2163..2168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
                     /note="hexamer: AATACA"
     polyA_site      2187
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13;
                     SEMDIST"
ORIGIN      
        1 ctttccgctc ggctgttttc ctgcgcagga gccgcagggc cgtaggcagc catggcgccc
       61 agccggaatg gcatggtctt gaagccccac ttccacaagg actggcagcg gcgcgtggcc
      121 acgtggttca accagccggc ccgtaagatc cgcagacgta aggcccggca agccaaggcg
      181 cgccgcatcg ccccgcgccc cgcgtcgggt cccatccggc ccatcgtgcg ctgccccacg
      241 gttcggtacc acacgaaggt gcgcgccggc cgcggcttca gcctggagga gctcagggtg
      301 gccggcattc acaagaaggt ggcccggacc atcggcattt ctgtggatcc gaggaggcgg
      361 aacaagtcca cggagtccct gcaggccaac gtgcagcggc tgaaggagta ccgctccaaa
      421 ctcatcctct tccccaggaa gccctcggcc cccaagaagg gagacagttc tgctgaagaa
      481 ctgaaactgg ccacccagct gaccggaccg gtcatgcccg tccggaacgt ctataagaag
      541 gagaaagctc gagtcatcac tgaggaagag aagaatttca aagccttcgc tagtctccgt
      601 atggcccgtg ccaacgcccg gctcttcggc atacgggcaa aaagagccaa ggaagccgca
      661 gaacaggatg ttgaaaagaa aaaataaagc cctcctgggg acttggaatc agtcggcagt
      721 catgctgggt ctccacgtgg tgtgtttcgt gggaacaact gggcctggga tggggcttca
      781 ctgctgtgac ttcctcctgc caggggattt ggggctttct tgaaagacag tccaagccct
      841 ggataatgct ttactttctg tgttgaagca ctgttggttg tttggttagt gactgatgta
      901 aaacggtttt cttgtgggga ggttacagag gctgacttca gagtggactt gtgttttttc
      961 tttttaaaga ggcaaggttg ggctggtgct cacagctgta atcccagcac tttgaggttg
     1021 gctgggagtt caagaccagc ctggccaaca tgtcagaact actaaaaata aagaaatcag
     1081 ccatgcttgg tgctgcacac ttgtagttgc agctcctggg aggcagaggt gagggatcac
     1141 ttaacccagg aggcagaggc tgcactgagc caggatcacg ccactgcact ctagcctggg
     1201 caacagtgag actgtctcaa aaaaaaaaaa agagacaggg tcttcggcac ccaggctgga
     1261 gtacagtgcc acaatcatgg ctcactgcag tcttgaactc atggcctcaa gcagtcctcc
     1321 ctcagcctcc caagtagagg ggtttatagg cacgagaccc tgcacccaac ctagagttgc
     1381 cttttttaag caaagcagtt tctagttaat gtagcatctt ggactttggg gcgtcattct
     1441 taagcttgtt gtgcccggta accatggtcc tcttgctctg attaaccctt ccttcaatgg
     1501 gcttcttcac ccagacacca aggtatgaga tggccctgcc aagtgtcggc ctctcctgtt
     1561 aaacaaaaac attctaaagc cattgttctt gcttcatgga caagaggcag ccagagagag
     1621 tgccagggtg ccctggtctg agctggcatc cccatgtctt ctgtgtccga gggcagcatg
     1681 gtttctcgtg cagtgctcag acacagcctg ccctagtcct accagctcac agcagcacct
     1741 gctctccttg gcagctatgg ccatgacaac cccagagaag cagcttcagg gaccgagtca
     1801 gattctgttt tgtctacatg cctctgccgg gtgccggtat tgaggcaccc agggagctgt
     1861 tactggcgtg gaaataggtg atgctgctac ctctgctgct gcactcacag ccacacttga
     1921 tacacgatga caccttgctt gtttggaaac atctaaacat ctagtagatg acttgcaggc
     1981 tgttggctac cagtttcctg tctgaggtgt atatgttaac ttcgtgatca gtttgtatgt
     2041 ttgggactct tgtcctatgt aaagttaagg tgggccgggt gcagtggctc acgcctgtaa
     2101 tcctaacact gggaggccga ggcgggtgga tcacctgatg gtgaaacctc atctctactg
     2161 aaaatacaaa aattagctga gtggtga
//
