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
202280632010A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling.38
281282042017A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability.21
236755312013DDRGK1 regulates NF-κB activity by modulating IκBα stability.14
282631862017Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.8
293213652017Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.2
295336702018Proteomic and Biochemical Analyses Reveal a Novel Mechanism for Promoting Protein Ubiquitination and Degradation by UFBP1, a Key Component of Ufmylation.2
302287832018Low expression of CDK5RAP3 and DDRGK1 indicates a poor prognosis in patients with gastric cancer.2

Citation

Dessen P

DDRGK1 (DDRGK domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56686/ddrgk1