Disease-gene associations mined from literature

Literature associating DDRGK1 and spondyloepimetaphyseal dysplasia

DDRGK1 [ENSP00000346483]

UFM1-binding and PCI 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).

Synonyms:  DDRGK1,  DDRGK1p,  hDDRGK1,  Q96HY6,  C20orf116 ...

Linkouts:  STRING  Pharos  UniProt