RPS27 ribosomal protein S27 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153990762..153992155)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (153128025..153129418)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153963238..153964631)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Functional analysis of RPS27 mutations and expression in melanoma.
Title: Functional analysis of RPS27 mutations and expression in melanoma.
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.
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.
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.
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.
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.
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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RP_S27_2 (e-PCR)
- UniSTS:35081

D17S2002 (e-PCR)
- UniSTS:40325

D1S3384 (e-PCR)
- UniSTS:45760

EST551 (e-PCR)
- UniSTS:164052

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	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
involved_in translation at postsynapse	IEA Inferred from Electronic Annotation more info
involved_in translation at presynapse	IEA Inferred from Electronic Annotation more info

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 more info	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 presynapse	IEA Inferred from Electronic Annotation more info
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

NG_053102.2 RefSeqGene

Range

5008..6401

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1158

mRNA and Protein(s)

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
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
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