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RPS27 ribosomal protein S27 [ Homo sapiens (human) ]

Gene ID: 6232, updated on 5-Mar-2024

Summary

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Official Symbol
RPS27provided by HGNC
Official Full Name
ribosomal protein S27provided by HGNC
Primary source
HGNC:HGNC:10416
See related
Ensembl:ENSG00000177954 MIM:603702; AllianceGenome:HGNC:10416
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
S27; MPS1; eS27; DBA17; MPS-1
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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]
Expression
Ubiquitous expression in ovary (RPKM 2236.6), lymph node (RPKM 1431.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q21.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153990762..153992155)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153128025..153129418)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153963238..153964631)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:153949621-153950269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1770 Neighboring gene Sharpr-MPRA regulatory region 11874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:153958417-153958918 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:153962963-153964162 Neighboring gene JTB divergent transcript Neighboring gene uncharacterized LOC124904673 Neighboring gene RAB13, member RAS oncogene family Neighboring gene nucleoporin 210 like Neighboring gene ribosomal protein L34 pseudogene 5

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. RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells. Wan J, et al. Adv Clin Exp Med, 2022 Aug. PMID 35546566
  2. Functional analysis of RPS27 mutations and expression in melanoma. Floristán A, et al. Pigment Cell Melanoma Res, 2020 May. PMID 31663663, Free PMC Article
  3. Mps1 Regulates Kinetochore-Microtubule Attachment Stability via the Ska Complex to Ensure Error-Free Chromosome Segregation. Maciejowski J, et al. Dev Cell, 2017 Apr 24. PMID 28441529, Free PMC Article
  4. A Novel Marker for Purkinje Cells, Ribosomal Protein MPS1/S27: Expression of MPS1 in Human Cerebellum. Fernandez-Pol JA. Cancer Genomics Proteomics, 2016 Jan-Feb. PMID 26708598
  5. A highly recurrent RPS27 5'UTR mutation in melanoma. Dutton-Regester K, et al. Oncotarget, 2014 May 30. PMID 24913145, Free PMC Article

See all (176) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells.
    Title: RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells.
  2. Hsp90 chaperone code and the tumor suppressor VHL cooperatively regulate the mitotic checkpoint.
    Title: Hsp90 chaperone code and the tumor suppressor VHL cooperatively regulate the mitotic checkpoint.
  3. Neddylation modification of ribosomal protein RPS27L or RPS27 by MDM2 or NEDP1 regulates cancer cell survival.
    Title: Neddylation modification of ribosomal protein RPS27L or RPS27 by MDM2 or NEDP1 regulates cancer cell survival.
  4. Functional analysis of RPS27 mutations and expression in melanoma.
    Title: Functional analysis of RPS27 mutations and expression in melanoma.
  5. this study indicates that MPS-1 promotes leptin-induced colorectal cancer (CRC) via activating JNK/c-Jun pathway. MPS-1 might represent a potent candidate for the treatment and prognostic prediction of obesity-associated CRC.
    Title: Metallopanstimulin-1 (MPS-1) mediates the promotion effect of leptin on colorectal cancer through activation of JNK/c-Jun signaling pathway.
  6. Chloride anion behaves as a signaling effector for CFTR in the modulation of RPS27 expression.
    Title: CFTR modulates RPS27 gene expression using chloride anion as signaling effector.
  7. reveal how Mps1 dynamically modifies kinetochores to correct improper attachments and ensure faithful chromosome segregation
    Title: Mps1 Regulates Kinetochore-Microtubule Attachment Stability via the Ska Complex to Ensure Error-Free Chromosome Segregation.
  8. MPS1 is a new marker of Purkinje Cells.
    Title: A Novel Marker for Purkinje Cells, Ribosomal Protein MPS1/S27: Expression of MPS1 in Human Cerebellum.
  9. Loss of function mutations in RPL27 and RPS27 lead to Diamond-Blackfan anaemia.
    Title: Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
  10. We identified frequent recurrent (i.e. hotspot) mutation in the 5' untranslated region of RPS27 in ~10% of melanoma samples
    Title: A highly recurrent RPS27 5'UTR mutation in melanoma.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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 17
MedGen: C4479428 OMIM: 617409 GeneReviews: Not available
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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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ribosomal protein S27 (RPS27) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

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 DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 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 NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic translation IC
Inferred by Curator
more info
 PubMed 
involved_in rRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal small subunit assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ribosomal small subunit biogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in translation IC
Inferred by Curator
more info
 PubMed 
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
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 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
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 
located_in ribosome NAS
Non-traceable Author Statement
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 eS27
Names
metallopan-stimulin 1
metallopanstimulin 1

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_053102.2 RefSeqGene

    Range
    5008..6401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1158

mRNA and Protein(s)

  1. NM_001030.6 → NP_001021.1  small ribosomal subunit protein eS27 isoform 1

    See identical proteins and their annotated locations for NP_001021.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ572583, BC070219, D28454
    Consensus CDS
    CCDS1059.1
    UniProtKB/Swiss-Prot
    P42677, Q5T4L6
    UniProtKB/TrEMBL
    H0YMV8
    Related
    ENSP00000499044.1, ENST00000651669.1
    Conserved Domains (1) summary
    PLN00209
    Location:6 → 82
    PLN00209; ribosomal protein S27; Provisional

  2. NM_001349946.2 → NP_001336875.1  small ribosomal subunit protein eS27 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in its 5' UTR and uses a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AJ572583, BC070219, CN270933
    UniProtKB/TrEMBL
    C9J1C5
    Conserved Domains (1) summary
    cl00897
    Location:1 → 50
    Ribosomal_S27e; Ribosomal protein S27

  3. NM_001349947.2 → NP_001336876.1  small ribosomal subunit protein eS27 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) retains an intron in its 5' UTR compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AJ572583, BC070219, BP276426
    UniProtKB/TrEMBL
    C9J1C5
    Related
    ENST00000493224.5
    Conserved Domains (1) summary
    cl00897
    Location:1 → 50
    Ribosomal_S27e; Ribosomal protein S27

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    153990762..153992155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    153128025..153129418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42677.3 GenPept UniProtKB/Swiss-Prot:P42677

Gene LinkOut

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