RER1 (retention in endoplasmic reticulum sorting receptor 1)

2019-04-01  

Identity

HGNC
RER1
LOCATION
1p36.32
LOCUSID
11079
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11079
HGNC: 30309
Ensembl: ENSG00000157916

Variants:

dbSNP: 11079
ClinVar: 11079
TCGA: ENSG00000157916
COSMIC: RER1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157916ENST00000306256A0A0A0MR06
ENSG00000157916ENST00000378512Q5T091
ENSG00000157916ENST00000378513Q5T093
ENSG00000157916ENST00000378518Q5T093
ENSG00000157916ENST00000443438Q5T092
ENSG00000157916ENST00000488353O15258
ENSG00000157916ENST00000488353Q5T094
ENSG00000157916ENST00000605895O15258
ENSG00000157916ENST00000605895Q5T094

Expression (GTEx)

0
50
100
150
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
176680052007Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1.28
234797432013Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels.16
253850462014Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.14
230430972012Retention in endoplasmic reticulum 1 (RER1) modulates amyloid-β (Aβ) production by altering trafficking of γ-secretase and amyloid precursor protein (APP).12
250963272014Rer1p regulates the ER retention of immature rhodopsin and modulates its intracellular trafficking.12
231297662012The ubiquitin ligase synoviolin up-regulates amyloid β production by targeting a negative regulator of γ-secretase, Rer1, for degradation.7
288772622017The ER retention protein RER1 promotes alpha-synuclein degradation via the proteasome.5
306305372019RER1 enhances carcinogenesis and stemness of pancreatic cancer under hypoxic environment.4
302609512018Rer1-mediated quality control system is required for neural stem cell maintenance during cerebral cortex development.2

Citation

Dessen P

RER1 (retention in endoplasmic reticulum sorting receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57895/rer1