RPS14 ribosomal protein S14 [Homo sapiens (human)] - Gene

Summary

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

Location:: 5q33.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (150442635..150449739, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (150979169..150986273, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (149822198..149829302, complement)

Chromosome 5 - NC_000005.10 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
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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1419 (e-PCR)
- UniSTS:29026

RP_S14_1 (e-PCR)
- UniSTS:78309

D5S1606E (e-PCR)
- UniSTS:151027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 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 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 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
part_of cytosolic small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	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

NG_042287.1 RefSeqGene

Range

5018..12122

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1139

mRNA and Protein(s)

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

150442635..150449739 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.