DDRGK1 (DDRGK domain containing 1)

2016-12-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf116,SEMDSH,UFBP1,dJ1187M17.3
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/favicon/manifest.json