DDRGK1 (DDRGK domain containing 1)

Gene

• Entrez ID: 65992
• Gene name: DDRGK domain containing 1
• Gene symbol: DDRGK1
• Synonyms: C20orf116, SEMDSH, UFBP1, dJ1187M17.3
• Chromosome: 20
• Chromosome location: 20p13
• Summary: 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. [prov

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1325869434	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020874	hsa-miR-155-5p	Proteomics	18668040
MIRT049458	hsa-miR-92a-3p	CLASH	23622248
MIRT929564	hsa-miR-1246	CLIP-seq
MIRT929565	hsa-miR-4320	CLIP-seq
MIRT929566	hsa-miR-4635	CLIP-seq
MIRT929567	hsa-miR-4790-3p	CLIP-seq
MIRT929568	hsa-miR-526b	CLIP-seq
MIRT929569	hsa-miR-578	CLIP-seq
MIRT1975224	hsa-miR-1193	CLIP-seq
MIRT1975225	hsa-miR-1245b-5p	CLIP-seq
MIRT1975226	hsa-miR-2355-5p	CLIP-seq
MIRT1975227	hsa-miR-2392	CLIP-seq
MIRT1975228	hsa-miR-3142	CLIP-seq
MIRT1975229	hsa-miR-3150a-3p	CLIP-seq
MIRT1975230	hsa-miR-3175	CLIP-seq
MIRT1975231	hsa-miR-3921	CLIP-seq
MIRT1975232	hsa-miR-4653-5p	CLIP-seq
MIRT1975233	hsa-miR-4728-5p	CLIP-seq
MIRT1975234	hsa-miR-491-5p	CLIP-seq
MIRT1975235	hsa-miR-541	CLIP-seq
MIRT1975236	hsa-miR-654-5p	CLIP-seq
MIRT1975237	hsa-miR-939	CLIP-seq
MIRT2210608	hsa-miR-1224-3p	CLIP-seq
MIRT2210609	hsa-miR-1226	CLIP-seq
MIRT2210610	hsa-miR-197	CLIP-seq
MIRT2210611	hsa-miR-2115	CLIP-seq
MIRT2210612	hsa-miR-3615	CLIP-seq
MIRT2210613	hsa-miR-3917	CLIP-seq
MIRT1975231	hsa-miR-3921	CLIP-seq
MIRT2210614	hsa-miR-412	CLIP-seq
MIRT2210615	hsa-miR-4286	CLIP-seq
MIRT2210616	hsa-miR-4475	CLIP-seq
MIRT2210617	hsa-miR-4511	CLIP-seq
MIRT2210618	hsa-miR-4533	CLIP-seq
MIRT1975232	hsa-miR-4653-5p	CLIP-seq
MIRT2210619	hsa-miR-4682	CLIP-seq
MIRT2210620	hsa-miR-4700-3p	CLIP-seq
MIRT2210621	hsa-miR-4714-5p	CLIP-seq
MIRT2210622	hsa-miR-4717-5p	CLIP-seq
MIRT2210623	hsa-miR-4733-3p	CLIP-seq
MIRT2210624	hsa-miR-4747-5p	CLIP-seq
MIRT2210625	hsa-miR-4773	CLIP-seq
MIRT2210626	hsa-miR-548b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001103	Function	RNA polymerase II repressing transcription factor binding	IDA	23675531
GO:0005515	Function	Protein binding	IPI	20018847, 20228063, 23675531, 25219498, 28128204, 28263186, 32160526
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	TAS	23675531
GO:0005783	Component	Endoplasmic reticulum	IDA	20018847
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20228063, 32160526
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	23675531
GO:0010628	Process	Positive regulation of gene expression	IMP	23675531
GO:0010629	Process	Negative regulation of gene expression	IMP	23675531
GO:0030335	Process	Positive regulation of cell migration	IMP	23675531
GO:0031647	Process	Regulation of protein stability	IDA	28128204
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	28263186
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	23675531
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IDA	25219498
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	28128204, 32160526
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0044389	Function	Ubiquitin-like protein ligase binding	IPI	25219498
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23675531
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	23675531
GO:0051216	Process	Cartilage development	IMP	28263186
GO:0061709	Process	Reticulophagy	IDA	32160526
GO:0070972	Process	Protein localization to endoplasmic reticulum	IDA	32160526
GO:0071569	Process	Protein ufmylation	IDA	32160526
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IMP	23675531
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IC	23675531
GO:1903721	Process	Positive regulation of I-kappaB phosphorylation	IMP	23675531
GO:1903895	Process	Negative regulation of IRE1-mediated unfolded protein response	IDA	28128204, 32160526
GO:1905050	Process	Positive regulation of metallopeptidase activity	IMP	23675531
GO:1905552	Process	Positive regulation of protein localization to endoplasmic reticulum	ISS
GO:1905636	Process	Positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP	23675531
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

Other IDs

• MIM: 616177
• HGNC: 16110
• e!Ensembl: ENSG00000198171

Protein

• UniProt ID: Q96HY6
• Protein name: DDRGK domain-containing protein 1 (Dashurin) (UFM1-binding and PCI domain-containing protein 1)
• Protein function: Component of the UFM1 ribosome E3 ligase (UREL) complex, a multiprotein complex that catalyzes ufmylation of endoplasmic reticulum-docked proteins (PubMed:30626644, PubMed:32160526, PubMed:35753586, PubMed:36121123, PubMed:36543799, PubMed:37595
• PDB: 7W3N, 8B9X, 8C0D, 8OHD, 8OJ0, 8OJ5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09756	DDRGK	115 → 303	DDRGK domain	Family

• Sequence:

  MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRA
  GGRPRRRRDLGSRLQAQRRAQRVAWAEADENEEEAVILAQEEEGVEKPAETHLSGKIGAK
  KLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE
  QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKQSKVVLLEDLASQVGL
  RTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNS
  LIAWGRESPAQAPA

• Sequence length: 314

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal disorder, Spondyloepimetaphyseal Dysplasia, Shohat Type	rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671	28263186

Unknown
Disease name	Disease term	dbSNP ID	References
Short femur	Congenital hypoplasia of femur
Dwarfism	Dwarfism
Hypoplasia of spine	Hypoplasia of spine
Micromelia	Micromelia