Literature associating DDRGK1 and spondyloepimetaphyseal dysplasia
DDRGK1 [ENSP00000346483]
DDRGK domain-containing protein 1; Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription . May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B . May also play a role in the cellular response to endoplasmic reticulum stress (By similarity). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator . ; Belongs to the DDRGK1 family.
Synonyms: DDRGK1, DDRGK1p, hDDRGK1, A0A0A0MRX2, Q96HY6 ...