• Gene id: 65992

Gene Summary

• Gene Symbol: DDRGK1   Gene   UCSC   Ensembl
• Aliases: C20orf116, SEMDSH, UFBP1, dJ1187M17.3
• Gene name: DDRGK domain containing 1
• Alternate names: DDRGK domain-containing protein 1, Dashurin, UFM1-binding and PCI domain-containing protein 1, UFM1-binding protein 1 containing a PCI domain,
• Gene location: 20p13 (3204681: 3190349)     Exons: 9     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 609368

Protein Summary

• Protein general information: Q96HY6  
  • Name: DDRGK domain containing protein 1 (Dashurin) (UFM1 binding and PCI domain containing protein 1)
  • Length: 314  
  • Mass: 35611
  • Tissue specificity: Widely expressed (at protein level). In the brain, highest levels in medulla oblongata, followed by cerebral cortex, cerebellum and frontal lobe. {ECO
• Sequence:

  MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQ
  AQRRAQRVAWAEADENEEEAVILAQEEEGVEKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLES
  QREAEWKKEEERLRLEEEQKEEEERKAREEQAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKQ
  SKVVLLEDLASQVGLRTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNS
  LIAWGRESPAQAPA

• Structural information:
  • Protein Domains: (229..27-)
    (/note="PCI"-)
  • Interpro: IPR019153  IPR036388  IPR036390  
  • STRING: ENSP00000346483
• Other Databases: GeneCards:  DDRGK1  Malacards:  DDRGK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001103	RNA polymerase II repressing transcription factor binding	IDA	molecular function
GO:1902808	positive regulation of cell cycle G1/S phase transition	IC	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1905050	positive regulation of metallopeptidase activity	IMP	biological process
GO:1905636	positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:1903721	positive regulation of I-kappaB phosphorylation	IMP	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:1905552	positive regulation of protein localization to endoplasmic reticulum	ISS	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1990592	protein K69-linked ufmylation	IDA	biological process
GO:1903721	positive regulation of I-kappaB phosphorylation	IMP	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0051216	cartilage development	IMP	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1901800	positive regulation of proteasomal protein catabolic process	IMP	biological process
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0044389	ubiquitin-like protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0051216	cartilage development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:1905552	positive regulation of protein localization to endoplasmic reticulum	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq