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Aliases for DDRGK1 Gene

Aliases for DDRGK1 Gene

  • DDRGK Domain Containing 1 2 3 5
  • Dashurin 2 3 4
  • UFM1-Binding And PCI Domain-Containing Protein 1 3 4
  • C20orf116 3 4
  • UFBP1 3 4
  • UFM1-Binding Protein 1 Containing A PCI Domain 3
  • Chromosome 20 Open Reading Frame 116 2
  • DDRGK Domain-Containing Protein 1 3
  • DJ1187M17.3 3

External Ids for DDRGK1 Gene

Previous HGNC Symbols for DDRGK1 Gene

  • C20orf116

Previous GeneCards Identifiers for DDRGK1 Gene

  • GC20M003120
  • GC20M003121
  • GC20M003122

Summaries for DDRGK1 Gene

Entrez Gene Summary for DDRGK1 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]

GeneCards Summary for DDRGK1 Gene

DDRGK1 (DDRGK Domain Containing 1) is a Protein Coding gene. Diseases associated with DDRGK1 include Spondyloepimetaphyseal Dysplasia, Shohat Type. Gene Ontology (GO) annotations related to this gene include ubiquitin-like protein ligase binding.

UniProtKB/Swiss-Prot for DDRGK1 Gene

  • 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).

Additional gene information for DDRGK1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDRGK1 Gene

Genomics for DDRGK1 Gene

GeneHancer (GH) Regulatory Elements for DDRGK1 Gene

Promoters and enhancers for DDRGK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I003202 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 565.9 +0.8 795 2.7 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 POLR2B E2F8 DDRGK1 ITPA ZNF343 VPS16 SNRPB NOP56 LZTS3 PIR45599
GH20I003172 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 28.5 +30.4 30413 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LZTS3 GC20P003173 ITPA DDRGK1 ZNF343 UBOX5-AS1 SNRPB ENSG00000229539 AVP OXT
GH20I003167 Enhancer 1.1 Ensembl ENCODE 26.4 +36.2 36199 2 ELF3 MLX ZFP64 ARID4B SIN3A DMAP1 RAD21 ZNF48 RARA THAP11 DDRGK1 ITPA LZTS3 PIR60125
GH20I003208 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 -4.8 -4834 2.6 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ITPA DDRGK1 ENSG00000277287
GH20I003221 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.9 -18.3 -18294 3.9 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 SLC30A9 GLIS2 ITPA DDRGK1 LZTS3 C20orf194 ENSG00000277287
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDRGK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDRGK1 gene promoter:

Genomic Locations for DDRGK1 Gene

Genomic Locations for DDRGK1 Gene
chr20:3,190,350-3,204,685
(GRCh38/hg38)
Size:
14,336 bases
Orientation:
Minus strand
chr20:3,170,996-3,185,331
(GRCh37/hg19)

Genomic View for DDRGK1 Gene

Genes around DDRGK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDRGK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDRGK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDRGK1 Gene

Proteins for DDRGK1 Gene

  • Protein details for DDRGK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HY6-DDRGK_HUMAN
    Recommended name:
    DDRGK domain-containing protein 1
    Protein Accession:
    Q96HY6
    Secondary Accessions:
    • A6NIU5
    • C9JSZ5
    • Q9BW47

    Protein attributes for DDRGK1 Gene

    Size:
    314 amino acids
    Molecular mass:
    35611 Da
    Quaternary structure:
    • Interacts with TRIP4; the interaction with TRIP4 is direct (PubMed:25219498). Interacts with UFL1 (PubMed:25219498). Interacts with NFKBIA (PubMed:23675531). Interacts with CDK5RAP3 (PubMed:20228063).

    Alternative splice isoforms for DDRGK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDRGK1 Gene

Post-translational modifications for DDRGK1 Gene

  • Ubiquitinated. Ubiquitination probably triggers proteasomal degradation and is negatively regulated by UFL1, the enzyme involved in the ufmylation of DDRGK1.
  • Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267 by UFL1.
  • Ubiquitination at posLast=227227
  • Modification sites at PhosphoSitePlus

Other Protein References for DDRGK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDRGK1 Gene

Domains & Families for DDRGK1 Gene

Gene Families for DDRGK1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DDRGK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HY6

UniProtKB/Swiss-Prot:

DDRGK_HUMAN :
  • Belongs to the DDRGK1 family.
Family:
  • Belongs to the DDRGK1 family.
genes like me logo Genes that share domains with DDRGK1: view

Function for DDRGK1 Gene

Molecular function for DDRGK1 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for DDRGK1 Gene

Gene Ontology (GO) - Molecular Function for DDRGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IDA 23675531
GO:0005515 protein binding IPI 20018847
GO:0044389 ubiquitin-like protein ligase binding IPI 25219498
genes like me logo Genes that share ontologies with DDRGK1: view
genes like me logo Genes that share phenotypes with DDRGK1: view

Animal Models for DDRGK1 Gene

MGI Knock Outs for DDRGK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DDRGK1

CRISPR Products

miRNA for DDRGK1 Gene

miRTarBase miRNAs that target DDRGK1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDRGK1 Gene

Localization for DDRGK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDRGK1 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDRGK1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
extracellular 3
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDRGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS 23675531
GO:0005783 endoplasmic reticulum IDA 20018847
GO:0005789 endoplasmic reticulum membrane IDA 20228063
genes like me logo Genes that share ontologies with DDRGK1: view

Pathways & Interactions for DDRGK1 Gene

SuperPathways for DDRGK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDRGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IMP 23675531
GO:0010628 positive regulation of gene expression IMP 23675531
GO:0010629 negative regulation of gene expression IMP 23675531
GO:0030335 positive regulation of cell migration IMP 23675531
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 23675531
genes like me logo Genes that share ontologies with DDRGK1: view

No data available for Pathways by source and SIGNOR curated interactions for DDRGK1 Gene

Drugs & Compounds for DDRGK1 Gene

(1) Drugs for DDRGK1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azathioprine Approved Pharma 190
genes like me logo Genes that share compounds with DDRGK1: view

Transcripts for DDRGK1 Gene

Unigene Clusters for DDRGK1 Gene

DDRGK domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDRGK1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for DDRGK1 Gene

GeneLoc Exon Structure for
DDRGK1
ECgene alternative splicing isoforms for
DDRGK1

Expression for DDRGK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDRGK1 Gene

Protein differential expression in normal tissues from HIPED for DDRGK1 Gene

This gene is overexpressed in Nasal epithelium (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDRGK1 Gene



Protein tissue co-expression partners for DDRGK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDRGK1 Gene:

DDRGK1

SOURCE GeneReport for Unigene cluster for DDRGK1 Gene:

Hs.471975

mRNA Expression by UniProt/SwissProt for DDRGK1 Gene:

Q96HY6-DDRGK_HUMAN
Tissue specificity: Widely expressed (at protein level). In the brain, highest levels in medulla oblongata, followed by cerebral cortex, cerebellum and frontal lobe.

Evidence on tissue expression from TISSUES for DDRGK1 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with DDRGK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDRGK1 Gene

Orthologs for DDRGK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDRGK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDRGK1 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia DDRGK1 33 34
  • 89.1 (n)
dog
(Canis familiaris)
Mammalia DDRGK1 33 34
  • 87.69 (n)
rat
(Rattus norvegicus)
Mammalia Ddrgk1 33
  • 85.9 (n)
mouse
(Mus musculus)
Mammalia Ddrgk1 33 16 34
  • 85.24 (n)
oppossum
(Monodelphis domestica)
Mammalia DDRGK1 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDRGK1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDRGK1 33 34
  • 67.36 (n)
lizard
(Anolis carolinensis)
Reptilia DDRGK1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485538 33
  • 70.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4129 33
zebrafish
(Danio rerio)
Actinopterygii ddrgk1 33 34
  • 61.54 (n)
zgc56488 33
fruit fly
(Drosophila melanogaster)
Insecta CG5862 34
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ufbp-1 34
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for DDRGK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDRGK1 Gene

ENSEMBL:
Gene Tree for DDRGK1 (if available)
TreeFam:
Gene Tree for DDRGK1 (if available)

Paralogs for DDRGK1 Gene

No data available for Paralogs for DDRGK1 Gene

Variants for DDRGK1 Gene

Sequence variations from dbSNP and Humsavar for DDRGK1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000557664 -- 3,203,394(-) A/G coding_sequence_variant, synonymous_variant
rs1000829818 -- 3,190,048(-) T/G downstream_transcript_variant
rs1000856079 -- 3,196,817(-) T/C intron_variant
rs1000869197 -- 3,196,851(-) C/T intron_variant
rs1000921581 -- 3,197,013(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DDRGK1 Gene

Variant ID Type Subtype PubMed ID
esv3645033 CNV loss 21293372
nsv1067207 CNV gain 25217958
nsv528355 CNV loss 19592680
nsv585276 CNV gain 21841781
nsv833898 CNV gain+loss 17160897

Variation tolerance for DDRGK1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDRGK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDRGK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDRGK1 Gene

Disorders for DDRGK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDRGK1 Gene - From: OMIM, ClinVar, and Orphanet

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, shohat type
  • semdsh
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DDRGK1

genes like me logo Genes that share disorders with DDRGK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDRGK1 Gene

Publications for DDRGK1 Gene

  1. Cloning and molecular characterization of Dashurin encoded by C20orf116, a PCI-domain containing protein. (PMID: 20036718) Neziri D … Wagner L (Biochimica et biophysica acta 2010) 2 3 4 58
  2. A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling. (PMID: 20228063) Wu J … Li H (The Journal of biological chemistry 2010) 2 3 4 58
  3. Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development. (PMID: 25219498) Yoo HM … Chung CH (Molecular cell 2014) 3 4 58
  4. DDRGK1 regulates NF-κB activity by modulating IκBα stability. (PMID: 23675531) Xi P … Cong YS (PloS one 2013) 3 4 58
  5. Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis. (PMID: 21494687) Lemaire K … Schuit F (PloS one 2011) 2 3 58

Products for DDRGK1 Gene

Sources for DDRGK1 Gene

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