DDRGK1 (DDRGK domain containing 1)

2016-12-01  

Identity

HGNC
DDRGK1
LOCATION
20p13
LOCUSID
65992
ALIAS
C20orf116,SEMDSH,UFBP1,dJ1187M17.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65992
MIM: 616177
HGNC: 16110
Ensembl: ENSG00000198171

Variants:

dbSNP: 65992
ClinVar: 65992
TCGA: ENSG00000198171
COSMIC: DDRGK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198171ENST00000354488Q96HY6
ENSG00000198171ENST00000380201A0A0A0MRX2

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446116Inflammatory Bowel DiseasesDiseaseClinicalAnnotationassociatedPD21961091
PA448515azathioprineChemicalClinicalAnnotationassociatedPD21961091

References

Pubmed IDYearTitleCitations
369650712023DDRGK1 Enhances Osteosarcoma Chemoresistance via Inhibiting KEAP1-Mediated NRF2 Ubiquitination.7
369650712023DDRGK1 Enhances Osteosarcoma Chemoresistance via Inhibiting KEAP1-Mediated NRF2 Ubiquitination.7
356703002022A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.1
356703002022A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.1
332193172021UFBP1, a key component in ufmylation, enhances drug sensitivity by promoting proteasomal degradation of oxidative stress-response transcription factor Nrf2.7
332193172021UFBP1, a key component in ufmylation, enhances drug sensitivity by promoting proteasomal degradation of oxidative stress-response transcription factor Nrf2.7
295336702018Proteomic and Biochemical Analyses Reveal a Novel Mechanism for Promoting Protein Ubiquitination and Degradation by UFBP1, a Key Component of Ufmylation.12
302287832018Low expression of CDK5RAP3 and DDRGK1 indicates a poor prognosis in patients with gastric cancer.11
295336702018Proteomic and Biochemical Analyses Reveal a Novel Mechanism for Promoting Protein Ubiquitination and Degradation by UFBP1, a Key Component of Ufmylation.12
302287832018Low expression of CDK5RAP3 and DDRGK1 indicates a poor prognosis in patients with gastric cancer.11
281282042017A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability.65
282631862017Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.31
293213652017Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.3
281282042017A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability.65
282631862017Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.31

Citation

Dessen P

DDRGK1 (DDRGK domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56686/gene-fusions/css/lib/bootstrap.min.css