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    RPS14 ribosomal protein S14 [ Homo sapiens (human) ]

    Gene ID: 6208, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RPS14provided by HGNC
    Official Full Name
    ribosomal protein S14provided by HGNC
    Primary source
    HGNC:HGNC:10387
    See related
    Ensembl:ENSG00000164587 MIM:130620; AllianceGenome:HGNC:10387
    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
    S14; EMTB; uS11
    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. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 306.3), bone marrow (RPKM 258.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPS14 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150442635..150449739, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150979169..150986273, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149822198..149829302, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23413 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149792263-149792832 Neighboring gene CD74 molecule Neighboring gene uncharacterized LOC124901106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149807381-149807882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149807883-149808382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23416 Neighboring gene MPRA-validated peak5536 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149820554-149821093 Neighboring gene MPRA-validated peak5537 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149828819-149829757 Neighboring gene MPRA-validated peak5538 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149840208-149840834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149843737-149844462 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82371 Neighboring gene NDST1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:149865131-149865786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149872150-149872771 Neighboring gene Sharpr-MPRA regulatory region 285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149881034-149881594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149881595-149882153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149889677-149890250 Neighboring gene Sharpr-MPRA regulatory region 361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149891552-149892205 Neighboring gene N-deacetylase and N-sulfotransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149902065-149902942 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149905099-149905839 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149916701-149917473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149919751-149920250 Neighboring gene Sharpr-MPRA regulatory region 2793 Neighboring gene small nucleolar RNA U13

    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. Fine-structure map of the human ribosomal protein gene RPS14. Diaz JJ, et al. Mol Cell Biol, 1992 Apr. PMID 1549121, Free PMC Article
    2. Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Vlachos A, et al. Blood, 2013 Oct 3. PMID 23943650, Free PMC Article
    3. Low RPS14 expression in MDS without 5q - aberration confers higher apoptosis rate of nucleated erythrocytes and predicts prolonged survival and possible response to lenalidomide in lower risk non-5q- patients. Wu L, et al. Eur J Haematol, 2013 Jun. PMID 23506134
    4. Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. Yip BH, et al. Leukemia, 2012 Sep. PMID 22430631
    5. Changes in RPS14 expression levels during lenalidomide treatment in Low- and Intermediate-1-risk myelodysplastic syndromes with chromosome 5q deletion. Oliva EN, et al. Eur J Haematol, 2010 Sep. PMID 20491881

    See all (269) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma.
      Title: Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma.
    2. RPS14 promotes the development and progression of glioma via p53 signaling pathway.
      Title: RPS14 promotes the development and progression of glioma via p53 signaling pathway.
    3. Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells.
      Title: Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells.
    4. L-leucine increases translation of RPS14 and LARP1 in erythroblasts from del(5q) myelodysplastic syndrome patients.
      Title: L-leucine increases translation of RPS14 and LARP1 in erythroblasts from del(5q) myelodysplastic syndrome patients.
    5. Partial silencing of RPS14 inhibits the proliferation of SKM-1, an acute myeloid leukemia cell line, and RPS14 negatively regulates p53 activation in SKM-1 cells.
      Title: Ribosomal protein S14 silencing inhibits growth of acute myeloid leukemia transformed from myelodysplastic syndromes via activating p53.
    6. RPS14 stabilized and activated p53 by inhibiting HDM2-mediated p53 polyubiquitination and degradation
      Title: hCINAP is a novel regulator of ribosomal protein-HDM2-p53 pathway by controlling NEDDylation of ribosomal protein S14.
    7. Patients with nonclassical Diamond Blackfan anemia and other hypoproliferative anemias may have somatically acquired 5q deletions with RPS14 haploinsufficiency
      Title: Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.
    8. Data indicate that RPS14 negates c-Myc functions by directly inhibiting its transcriptional activity and mediating its mRNA degradation via miRNA.
      Title: Ribosomal protein S14 negatively regulates c-Myc activity.
    9. lower RPS14 predicts prolonged survival and possible response to lenalidomide in lower risk MDS patients.
      Title: Low RPS14 expression in MDS without 5q - aberration confers higher apoptosis rate of nucleated erythrocytes and predicts prolonged survival and possible response to lenalidomide in lower risk non-5q- patients.
    10. RPS14 and RPS19 have distinct roles in regulating the MDM2-p53 feedback loop in response to ribosomal stress
      Title: Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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
    Myelodysplastic syndrome associated with isolated del(5q)
    MedGen: C0740302 OMIM: 153550 GeneReviews: Not available
    		not available

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    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 RNA binding HDA PubMed 
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables mRNA 5'-UTR binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 translation regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cytoplasmic translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoplasmic translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maturation of SSU-rRNA ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic density EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS11
    Names
    40S ribosomal protein S14
    emetine resistance

    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_042287.1 RefSeqGene

      Range
      5018..12122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1139

    mRNA and Protein(s)

    1. NM_001025070.2 → NP_001020241.1  small ribosomal subunit protein uS11

      See identical proteins and their annotated locations for NP_001020241.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a small segment in the 5' UTR, as compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AA467888, AC011388, BM454896
      Consensus CDS
      CCDS4307.1
      UniProtKB/Swiss-Prot
      B2R5G5, D3DQG5, P06366, P62263, Q5BJI0
      UniProtKB/TrEMBL
      A0A2R8Y811
      Related
      ENSP00000385958.3, ENST00000401695.8
      Conserved Domains (1) summary
      PTZ00129
      Location:1 → 140
      PTZ00129; 40S ribosomal protein S14; Provisional

    2. NM_001025071.2 → NP_001020242.1  small ribosomal subunit protein uS11

      See identical proteins and their annotated locations for NP_001020242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AA467888, AC011388, BM557014
      Consensus CDS
      CCDS4307.1
      UniProtKB/Swiss-Prot
      B2R5G5, D3DQG5, P06366, P62263, Q5BJI0
      UniProtKB/TrEMBL
      A0A2R8Y811
      Related
      ENSP00000311028.5, ENST00000312037.6
      Conserved Domains (1) summary
      PTZ00129
      Location:1 → 140
      PTZ00129; 40S ribosomal protein S14; Provisional

    3. NM_005617.4 → NP_005608.1  small ribosomal subunit protein uS11

      See identical proteins and their annotated locations for NP_005608.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a big segment in the 5' UTR, as compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AA467888, AC011388, BC006784
      Consensus CDS
      CCDS4307.1
      UniProtKB/Swiss-Prot
      B2R5G5, D3DQG5, P06366, P62263, Q5BJI0
      UniProtKB/TrEMBL
      A0A2R8Y811
      Related
      ENSP00000385425.1, ENST00000407193.7
      Conserved Domains (1) summary
      PTZ00129
      Location:1 → 140
      PTZ00129; 40S ribosomal protein S14; Provisional

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150442635..150449739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      150979169..150986273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005616.1: Suppressed sequence

      Description
      NM_005616.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62263.3 GenPept UniProtKB/Swiss-Prot:P62263

    Gene LinkOut

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

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