Identity
HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf116,SEMDSH,UFBP1,dJ1187M17.3
FUSION GENES
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: 65992
MIM: 616177
HGNC: 16110
Ensembl: ENSG00000198171
Variants:
dbSNP: 65992
ClinVar: 65992
TCGA: ENSG00000198171
COSMIC: DDRGK1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198171 | ENST00000354488 | Q96HY6 |
| ENSG00000198171 | ENST00000380201 | A0A0A0MRX2 |
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA446116 | Inflammatory Bowel Diseases | Disease | ClinicalAnnotation | associated | PD | 21961091 | |
| PA448515 | azathioprine | Chemical | ClinicalAnnotation | associated | PD | 21961091 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36965071 | 2023 | DDRGK1 Enhances Osteosarcoma Chemoresistance via Inhibiting KEAP1-Mediated NRF2 Ubiquitination. | 7 |
| 36965071 | 2023 | DDRGK1 Enhances Osteosarcoma Chemoresistance via Inhibiting KEAP1-Mediated NRF2 Ubiquitination. | 7 |
| 35670300 | 2022 | A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. | 1 |
| 35670300 | 2022 | A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. | 1 |
| 33219317 | 2021 | UFBP1, a key component in ufmylation, enhances drug sensitivity by promoting proteasomal degradation of oxidative stress-response transcription factor Nrf2. | 7 |
| 33219317 | 2021 | UFBP1, a key component in ufmylation, enhances drug sensitivity by promoting proteasomal degradation of oxidative stress-response transcription factor Nrf2. | 7 |
| 29533670 | 2018 | Proteomic and Biochemical Analyses Reveal a Novel Mechanism for Promoting Protein Ubiquitination and Degradation by UFBP1, a Key Component of Ufmylation. | 12 |
| 30228783 | 2018 | Low expression of CDK5RAP3 and DDRGK1 indicates a poor prognosis in patients with gastric cancer. | 11 |
| 29533670 | 2018 | Proteomic and Biochemical Analyses Reveal a Novel Mechanism for Promoting Protein Ubiquitination and Degradation by UFBP1, a Key Component of Ufmylation. | 12 |
| 30228783 | 2018 | Low expression of CDK5RAP3 and DDRGK1 indicates a poor prognosis in patients with gastric cancer. | 11 |
| 28128204 | 2017 | A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability. | 65 |
| 28263186 | 2017 | Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. | 31 |
| 29321365 | 2017 | Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans. | 3 |
| 28128204 | 2017 | A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability. | 65 |
| 28263186 | 2017 | Loss 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/ddrgk1-(ddrgk-domain-containing-1)
