DDRGK1 gene

DDRGK domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]

From UniProt:

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 (PubMed:25219498). 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 (PubMed:23675531). 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 (PubMed:28263186).

From NCBI Gene:

  • Spondyloepimetaphyseal dysplasia Shohat type

From UniProt:

Spondyloepimetaphyseal dysplasia, Shohat type (SEMDSH): An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. [MIM:602557]

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13

Molecular Location: base pairs 3,190,350 to 3,204,697 on chromosome 20 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13
  • C20orf116
  • dJ1187M17.3
  • SEMDSH
  • UFBP1