ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)

2014-11-01 Affiliation

Identity

HGNC

ERAL1

LOCATION

17q11.2

LOCUSID

26284

ALIAS

CEGA,ERA,ERA-W,ERAL1A,ERAL1B,H-ERA,HERA-A,HERA-B,PRLTS6

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: 26284
MIM: 607435
HGNC: 3424
Ensembl: ENSG00000132591

Variants:

dbSNP: 26284
ClinVar: 26284
TCGA: ENSG00000132591
COSMIC: ERAL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132591	ENST00000254928	O75616
ENSG00000132591	ENST00000412138	J3QT61
ENSG00000132591	ENST00000461894	J3QSB2
ENSG00000132591	ENST00000580917	J3QRV9
ENSG00000132591	ENST00000583487	K7EQJ8

Expression (GTEx)

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
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial translation	REACTOME	R-HSA-5368287
Mitochondrial translation initiation	REACTOME	R-HSA-5368286
Mitochondrial translation elongation	REACTOME	R-HSA-5389840
Mitochondrial translation termination	REACTOME	R-HSA-5419276

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20604745	2010	Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit.	48
28449065	2017	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.	8

Citation

Dessen P

ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62878/eral1