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RPS29 ribosomal protein S29 [ Homo sapiens (human) ]

Gene ID: 6235, updated on 3-Nov-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
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Genomic context

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See RPS29 in Genome Data Viewer
Location:
14q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49570988..49598710, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43769235..43796961, complement)
RS_2024_09 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 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 (115) 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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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
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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_2024_08

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

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