RPL13 (ribosomal protein L13)

2003-02-01 Affiliation

Identity

HGNC

RPL13

LOCATION

16q24.3

LOCUSID

6137

ALIAS

BBC1,D16S444E,D16S44E,L13,SEMDIST

FUSION GENES

Show Gene Fusions

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: 6137
MIM: 113703
HGNC: 10303
Ensembl: ENSG00000167526

Variants:

dbSNP: 6137
ClinVar: 6137
TCGA: ENSG00000167526
COSMIC: RPL13

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167526	ENST00000311528	P26373
ENSG00000167526	ENST00000311528	A8K4C8
ENSG00000167526	ENST00000393099	P26373
ENSG00000167526	ENST00000393099	A8K4C8
ENSG00000167526	ENST00000452368	P26373
ENSG00000167526	ENST00000467736	J3QSB4
ENSG00000167526	ENST00000472354	J3KS98
ENSG00000167526	ENST00000562879	H3BTH3
ENSG00000167526	ENST00000563270	H3BUK8
ENSG00000167526	ENST00000567815	P26373
ENSG00000167526	ENST00000567815	A8K4C8

Expression (GTEx)

500

1000

1500

2000

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
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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA445425	Prostatic Neoplasms	Disease	ClinicalAnnotation	associated	PD	20038957
PA449383	docetaxel	Chemical	ClinicalAnnotation	associated	PD	20038957
PA451644	thalidomide	Chemical	ClinicalAnnotation	associated	PD	20038957

References

Pubmed ID	Year	Title	Citations
32916022	2021	Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.	6
32916022	2021	Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.	6
31625562	2019	Model system identification of novel congenital heart disease gene candidates: focus on RPL13.	13
31630789	2019	RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.	12
31625562	2019	Model system identification of novel congenital heart disease gene candidates: focus on RPL13.	13
31630789	2019	RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.	12
19034380	2009	Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.	50
19034380	2009	Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.	50
16786168	2006	Activation of the ribosomal protein L13 gene in human gastrointestinal cancer.	37
16786168	2006	Activation of the ribosomal protein L13 gene in human gastrointestinal cancer.	37

Citation

Dessen P

RPL13 (ribosomal protein L13)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42149