LOCUS       NM_001032                295 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ribosomal protein S29 (RPS29), transcript variant 1,
            mRNA.
ACCESSION   NM_001032
VERSION     NM_001032.5
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 295)
  AUTHORS   Behrmann,E., Loerke,J., Budkevich,T.V., Yamamoto,K., Schmidt,A.,
            Penczek,P.A., Vos,M.R., Burger,J., Mielke,T., Scheerer,P. and
            Spahn,C.M.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   2  (bases 1 to 295)
  AUTHORS   Khatter,H., Myasnikov,A.G., Natchiar,S.K. and Klaholz,B.P.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   3  (bases 1 to 295)
  AUTHORS   Mirabello,L., Macari,E.R., Jessop,L., Ellis,S.R., Myers,T.,
            Giri,N., Taylor,A.M., McGrath,K.E., Humphries,J.M., Ballew,B.J.,
            Yeager,M., Boland,J.F., He,J., Hicks,B.D., Burdett,L., Alter,B.P.,
            Zon,L. and Savage,S.A.
  TITLE     Whole-exome sequencing and functional studies identify RPS29 as a
            novel gene mutated in multicase Diamond-Blackfan anemia families
  JOURNAL   Blood 124 (1), 24-32 (2014)
   PUBMED   24829207
  REMARK    GeneRIF: We uncovered a novel Diamond-Blackfan anemia causative
            gene, RPS29
REFERENCE   4  (bases 1 to 295)
  AUTHORS   Xie,P., Kranzler,H.R., Yang,C., Zhao,H., Farrer,L.A. and
            Gelernter,J.
  TITLE     Genome-wide association study identifies new susceptibility loci
            for posttraumatic stress disorder
  JOURNAL   Biol Psychiatry 74 (9), 656-663 (2013)
   PUBMED   23726511
REFERENCE   5  (bases 1 to 295)
  AUTHORS   Anger,A.M., Armache,J.P., Berninghausen,O., Habeck,M., Subklewe,M.,
            Wilson,D.N. and Beckmann,R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 295)
  AUTHORS   Kondoh,N., Noda,M., Fisher,R.J., Schweinfest,C.W., Papas,T.S.,
            Kondoh,A., Samuel,K.P. and Oikawa,T.
  TITLE     The S29 ribosomal protein increases tumor suppressor activity of K
            rev-1 gene on v-K ras-transformed NIH3T3 cells
  JOURNAL   Biochim Biophys Acta 1313 (1), 41-46 (1996)
   PUBMED   8781548
REFERENCE   7  (bases 1 to 295)
  AUTHORS   Vladimirov,S.N., Ivanov,A.V., Karpova,G.G., Musolyamov,A.K.,
            Egorov,T.A., Thiede,B., Wittmann-Liebold,B. and Otto,A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 295)
  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 295)
  AUTHORS   Frigerio,J.M., Dagorn,J.C. and Iovanna,J.L.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   10 (bases 1 to 295)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU942244.1 and BC035313.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_001032.4.
            
            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 40S subunit and a member of the
            S14P family of ribosomal proteins. The protein, which contains a
            C2-C2 zinc finger-like domain that can bind to zinc, can enhance
            the tumor suppressor activity of Ras-related protein 1A (KREV1). It
            is located in the cytoplasm. Variable expression of this gene in
            colorectal cancers compared to adjacent normal tissues has been
            observed, although no correlation between the level of expression
            and the severity of the disease has been found. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2013].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and encodes 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 :: CB110739.1, CD249531.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245458.11/ ENSP00000245458.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BU942244.1         40-68
            30-295              BC035313.1         1-266
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..295
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="ribosomal protein S29"
                     /db_xref="GeneID:6235"
                     /db_xref="HGNC:HGNC:10419"
                     /db_xref="MIM:603633"
     exon            1..96
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..205
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S29; small ribosomal subunit protein
                     uS14"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS14 isoform 1"
                     /protein_id="NP_001023.1"
                     /db_xref="CCDS:CCDS9685.1"
                     /db_xref="GeneID:6235"
                     /db_xref="HGNC:HGNC:10419"
                     /db_xref="MIM:603633"
                     /translation="MGHQQLYWSHPRKFGQGSRSCRVCSNRHGLIRKYGLNMCRQCFR
                     QYAKDIGFIKLD"
     exon            97..196
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /inference="alignment:Splign:2.1.0"
     exon            197..295
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      276..281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="hexamer: AATAAA"
     polyA_site      295
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="major polyA site"
ORIGIN      
        1 cttcctttta cctcgttgca ctgctgagag caagatgggt caccagcagc tgtactggag
       61 ccacccgcga aaattcggcc agggttctcg ctcttgtcgt gtctgttcaa accggcacgg
      121 tctgatccgg aaatatggcc tcaatatgtg ccgccagtgt ttccgtcagt acgcgaagga
      181 tatcggtttc attaagttgg actaaatgct cttccttcag aggattatcc ggggcatcta
      241 ctcaatgaaa aaccatgata attctttgta tataaaataa acatttgaaa aaacc
//
