RPS26 (ribosomal protein S26)

2014-11-01 Affiliation

Identity

HGNC

RPS26

LOCATION

12q13.2

LOCUSID

6231

ALIAS

DBA10,S26,eS26

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6231
MIM: 603701
HGNC: 10414
Ensembl: ENSG00000197728

Variants:

dbSNP: 6231
ClinVar: 6231
TCGA: ENSG00000197728
COSMIC: RPS26

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197728	ENST00000356464	P62854
ENSG00000197728	ENST00000356464	A0A024RB14
ENSG00000197728	ENST00000552361	P62854
ENSG00000197728	ENST00000552361	A0A024RB14
ENSG00000197728	ENST00000646449	P62854
ENSG00000197728	ENST00000646449	A0A024RB14

Expression (GTEx)

100

200

300

400

500

600

700

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ribosome	KEGG	ko03010
Ribosome	KEGG	hsa03010
Ribosome, eukaryotes	KEGG	hsa_M00177
Ribosome, eukaryotes	KEGG	M00177
Metabolism of proteins	REACTOME	R-HSA-392499
Translation	REACTOME	R-HSA-72766
Eukaryotic Translation Initiation	REACTOME	R-HSA-72613
Cap-dependent Translation Initiation	REACTOME	R-HSA-72737
Formation of a pool of free 40S subunits	REACTOME	R-HSA-72689
Formation of the ternary complex, and subsequently, the 43S complex	REACTOME	R-HSA-72695
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	REACTOME	R-HSA-72662
Translation initiation complex formation	REACTOME	R-HSA-72649
Ribosomal scanning and start codon recognition	REACTOME	R-HSA-72702
GTP hydrolysis and joining of the 60S ribosomal subunit	REACTOME	R-HSA-72706
L13a-mediated translational silencing of Ceruloplasmin expression	REACTOME	R-HSA-156827
SRP-dependent cotranslational protein targeting to membrane	REACTOME	R-HSA-1799339
Eukaryotic Translation Elongation	REACTOME	R-HSA-156842
Peptide chain elongation	REACTOME	R-HSA-156902
Eukaryotic Translation Termination	REACTOME	R-HSA-72764
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
Influenza Infection	REACTOME	R-HSA-168254
Influenza Life Cycle	REACTOME	R-HSA-168255
Influenza Viral RNA Transcription and Replication	REACTOME	R-HSA-168273
Viral mRNA Translation	REACTOME	R-HSA-192823
Gene Expression	REACTOME	R-HSA-74160
Nonsense-Mediated Decay (NMD)	REACTOME	R-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	REACTOME	R-HSA-975957
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	REACTOME	R-HSA-975956
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Selenoamino acid metabolism	REACTOME	R-HSA-2408522
Selenocysteine synthesis	REACTOME	R-HSA-2408557
rRNA processing	REACTOME	R-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosol	REACTOME	R-HSA-6791226
rRNA processing in the nucleus and cytosol	REACTOME	R-HSA-8868773

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20116044	2010	Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.	98
22045982	2011	Ribosomal protein gene deletions in Diamond-Blackfan anemia.	52
23728348	2014	The ribosomal protein S26 regulates p53 activity in response to DNA damage.	33
22689679	2012	High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.	20
15716004	2005	Human ribosomal protein S26 suppresses the splicing of its pre-mRNA.	12
21414820	2011	Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.	4
30201955	2018	Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2.	4
29563070	2018	The eS26 protein is involved in the formation of a nucleophosmin binding site on the human 40S ribosomal subunit.	1
12068637	2002	[Ribosomal protein binding with the first intron of the human ribosomal protein S26 pre-mRNA stimulates its interaction with proteins extracted from Hela cells].	0
31277601	2019	Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.	0

Citation

Dessen P

RPS26 (ribosomal protein S26)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72865/rps26