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    RPS29 ribosomal protein S29 [ Homo sapiens (human) ]

    Gene ID: 6235, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RPS29provided by HGNC
    Official Full Name
    ribosomal protein S29provided by HGNC
    Primary source
    HGNC:HGNC:10419
    See related
    Ensembl:ENSG00000213741 MIM:603633; AllianceGenome:HGNC:10419
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S29; uS14; DBA13
    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]
    Expression
    Ubiquitous expression in colon (RPKM 132.6), ovary (RPKM 125.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49570988..49598710, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43769235..43796961, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50037706..50065428, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984701 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50020527-50021112 Neighboring gene RNA, 5S ribosomal pseudogene 384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8309 Neighboring gene ribosomal protein L32 pseudogene 29 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50049568-50050079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50050080-50050590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50050591-50051102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8310 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50053149-50053658 Neighboring gene RNA component of signal recognition particle 7SL1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8314 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50065755-50066525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5696 Neighboring gene ras homolog family member Q pseudogene 1 Neighboring gene leucine rich repeat protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8317 Neighboring gene ribosomal protein L36a like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Low content of protein S29 in ribosomes of human lung cancer cell line a549: detected by two-dimensional electrophoresis. Zhou ZD, et al. Protein Pept Lett, 2003 Feb. PMID 12625830
    2. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Mirabello L, et al. Blood, 2014 Jul 3. PMID 24829207, Free PMC Article
    3. Regulation of the quiescence-induced genes: quiescin Q6, decorin, and ribosomal protein S29. Coppock D, et al. Biochem Biophys Res Commun, 2000 Mar 16. PMID 10708601
    4. The S29 ribosomal protein increases tumor suppressor activity of K rev-1 gene on v-K ras-transformed NIH3T3 cells. Kondoh N, et al. Biochim Biophys Acta, 1996 Aug 21. PMID 8781548
    5. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. Frigerio JM, et al. Biochim Biophys Acta, 1995 May 17. PMID 7772601

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We uncovered a novel Diamond-Blackfan anemia causative gene, RPS29
      Title: Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
    2. The content of protein S29 in ribosomes of lung cancer cell line A549 was distinctly low.
      Title: Low content of protein S29 in ribosomes of human lung cancer cell line a549: detected by two-dimensional electrophoresis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 13
    MedGen: C4014641 OMIM: 615909 GeneReviews: Diamond-Blackfan Anemia
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of ribosome HDA PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cytoplasmic translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in translation IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasmic side of rough endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of cytosolic small ribosomal subunit HDA PubMed 
    part_of cytosolic small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytosolic small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of small ribosomal subunit HDA PubMed 

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS14
    Names
    40S ribosomal protein S29

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050638.2 RefSeqGene

      Range
      17331..32723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1147

    mRNA and Protein(s)

    1. NM_001030001.4 → NP_001025172.1  small ribosomal subunit protein uS14 isoform 2

      See identical proteins and their annotated locations for NP_001025172.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes an alternate 3'-terminal exon, compared to variant 1, resulting in a longer isoform (2) with a unique C-terminus.
      Source sequence(s)
      AL139099, BC015974, BU942244
      Consensus CDS
      CCDS32072.1
      UniProtKB/Swiss-Prot
      P62273
      Related
      ENSP00000379339.3, ENST00000396020.7
      Conserved Domains (1) summary
      PTZ00218
      Location:1 → 54
      PTZ00218; 40S ribosomal protein S29; Provisional

    2. NM_001032.5 → NP_001023.1  small ribosomal subunit protein uS14 isoform 1

      See identical proteins and their annotated locations for NP_001023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and encodes isoform 1.
      Source sequence(s)
      BC035313, BU942244
      Consensus CDS
      CCDS9685.1
      UniProtKB/Swiss-Prot
      A8MZ73, P30054, P62273
      UniProtKB/TrEMBL
      A0A2R8Y6P7
      Related
      ENSP00000245458.7, ENST00000245458.11
      Conserved Domains (1) summary
      PTZ00218
      Location:1 → 56
      PTZ00218; 40S ribosomal protein S29; Provisional

    3. NM_001351375.2 → NP_001338304.1  small ribosomal subunit protein uS14 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL139099, HY027234
      Consensus CDS
      CCDS86388.1
      UniProtKB/TrEMBL
      A0A087WTT6
      Related
      ENSP00000478117.1, ENST00000557111.5
      Conserved Domains (1) summary
      cl00355
      Location:19 → 53
      Ribosomal_S14; Ribosomal protein S14p/S29e

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      49570988..49598710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      43769235..43796961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62273.2 GenPept UniProtKB/Swiss-Prot:P62273

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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