Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	65992
Gene name	DDRGK domain containing 1
Gene symbol	DDRGK1
Synonyms (NCBI Gene)	C20orf116SEMDSHUFBP1dJ1187M17.3
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

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

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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

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20018847, 20228063, 23675531, 25219498, 28128204, 28263186, 32160526, 33961781, 35156780, 36012204, 37595036
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	TAS	23675531
GO:0005783	Component	Endoplasmic reticulum	IDA	20018847
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36543799, 38383785, 38383789
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20228063, 32160526
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0008015	Process	Blood circulation	TAS	1400360
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:0016020	Component	Membrane	IEA
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:0032790	Process	Ribosome disassembly	IDA	36517592
GO:0032790	Process	Ribosome disassembly	IDA	38383785, 38383789
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	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	23675531
GO:0044389	Function	Ubiquitin-like protein ligase binding	IBA
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	IBA
GO:0051216	Process	Cartilage development	IEA
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, 35753586, 36121123, 36543799, 37595036, 37795761, 38383785, 38383789
GO:0071569	Process	Protein ufmylation	IMP	30626644
GO:0072344	Process	Rescue of stalled ribosome	IDA	37595036, 38383785, 38383789
GO:0140501	Process	Positive regulation of reticulophagy	IDA	36543799
GO:0141185	Function	UFM1-modified protein reader activity	IDA	36121123, 36543799, 37595036, 38383785, 38383789
GO:1900100	Process	Positive regulation of plasma cell differentiation	IEA
GO:1900100	Process	Positive regulation of plasma cell differentiation	ISS
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:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IDA	36543799
GO:1903721	Process	Positive regulation of I-kappaB phosphorylation	IMP	23675531
GO:1903895	Process	Negative regulation of IRE1-mediated unfolded protein response	IBA
GO:1903895	Process	Negative regulation of IRE1-mediated unfolded protein response	IDA	28128204, 32160526
GO:1903895	Process	Negative regulation of IRE1-mediated unfolded protein response	IEA
GO:1903898	Process	Negative regulation of PERK-mediated unfolded protein response	IEA
GO:1903898	Process	Negative regulation of PERK-mediated unfolded protein response	ISS
GO:1905552	Process	Positive regulation of protein localization to endoplasmic reticulum	IEA
GO:1905552	Process	Positive regulation of protein localization to endoplasmic reticulum	ISS
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

MIM	HGNC	e!Ensembl
616177	16110	ENSG00000198171

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level). In the brain, highest levels in medulla oblongata, followed by cerebral cortex, cerebellum and frontal lobe. {ECO:0000269|PubMed:20018847, ECO:0000269|PubMed:20036718}.

Sequence

MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRA
GGRPRRRRDLGSRLQAQRRAQRVAWAEADENEEEAVILAQEEEGVEKPAETHLSGKIGAK
KLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE
QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKQSKVVLLEDLASQVGL
RTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNS
LIAWGRESPAQAPA

Sequence length

314

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondyloepimetaphyseal dysplasia, Shohat type	Pathogenic	rs1011589357, rs1325869434	RCV005239576 RCV000576892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDRGK1-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	35680375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of spine	Hypoplasia Of Spine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30228783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30228783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	28263186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36965071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26678010, 29622492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	28263186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	28263186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia, Shohat Type	Spondyloepimetaphyseal dysplasia	BEFREE	28263186		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal Dysplasia, Shohat Type	Spondyloepimetaphyseal dysplasia	ORPHANET_DG	28263186		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, Shohat type	Spondyloepimetaphyseal dysplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal Dysplasia, Shohat Type	Spondyloepimetaphyseal dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30228783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30228783	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDRGK1 (DDRGK domain containing 1)