RPL35A (ribosomal protein L35a)

2018-02-01 Affiliation

Identity

HGNC

RPL35A

LOCATION

3q29

LOCUSID

6165

ALIAS

DBA5,L35A,eL33

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: 6165
MIM: 180468
HGNC: 10345
Ensembl: ENSG00000182899

Variants:

dbSNP: 6165
ClinVar: 6165
TCGA: ENSG00000182899
COSMIC: RPL35A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182899	ENST00000429437	F8WBS5
ENSG00000182899	ENST00000439255	F8WB72
ENSG00000182899	ENST00000442341	C9K025
ENSG00000182899	ENST00000448864	P18077
ENSG00000182899	ENST00000647248	P18077

Expression (GTEx)

500

1000

1500

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

References

Pubmed ID	Year	Title	Citations
18535205	2008	Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.	102
22045982	2011	Ribosomal protein gene deletions in Diamond-Blackfan anemia.	52
19773262	2010	Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.	30
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
22262766	2012	Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.	17
20378560	2010	Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.	16
12175552	2002	Inhibition of cell death by ribosomal protein L35a.	12
28432740	2017	Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.	2

Citation

Dessen P

RPL35A (ribosomal protein L35a)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57270/rpl35a