DERL1 (derlin 1)

2007-02-01  

Identity

HGNC
DERL1
LOCATION
8q24.13
LOCUSID
79139
ALIAS
DER-1,DER1,derlin-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79139
MIM: 608813
HGNC: 28454
Ensembl: ENSG00000136986

Variants:

dbSNP: 79139
ClinVar: 79139
TCGA: ENSG00000136986
COSMIC: DERL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136986ENST00000259512Q9BUN8
ENSG00000136986ENST00000259512A0A024R9G3
ENSG00000136986ENST00000405944Q9BUN8
ENSG00000136986ENST00000419562B4E1G1
ENSG00000136986ENST00000519018E5RGY0
ENSG00000136986ENST00000523036E5RGY0

Expression (GTEx)

0
10
20
30
40
50
60
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

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
HRD1/SEL1 ERAD complexKEGGhsa_M00403
HRD1/SEL1 ERAD complexKEGGM00403
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

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
152158562004A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol.350
152158552004A membrane protein required for dislocation of misfolded proteins from the ER.258
161865102005Recruitment of the p97 ATPase and ubiquitin ligases to the site of retrotranslocation at the endoplasmic reticulum membrane.144
169542042006Derlin-1 promotes the efficient degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) and CFTR folding mutants.65
282194052017TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway.61
180940462008Derlin-1 facilitates the retro-translocation of cholera toxin.55
233061552013Derlin-1 is overexpressed in non-small cell lung cancer and promotes cancer cell invasion via EGFR-ERK-mediated up-regulation of MMP-2 and MMP-9.48
250304482014TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I.41
222383642012Derlin-1 and UBXD8 are engaged in dislocation and degradation of lipidated ApoB-100 at lipid droplets.35
178729462007Identification of SVIP as an endogenous inhibitor of endoplasmic reticulum-associated degradation.34

Citation

Dessen P

DERL1 (derlin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46086/derl1