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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
  • 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. 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 NFKBIB, the inhibitor of NF-kappa-B (PubMed:23675531). May also play a role in the cellular response to endoplasmic reticulum stress (By similarity).

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

Genomics for DDRGK1 Gene

Regulatory Elements for DDRGK1 Gene

Enhancers for DDRGK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DDRGK1 on UCSC Golden Path with GeneCards custom track

Promoters for DDRGK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DDRGK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DDRGK1 Gene

Chromosome:
20
Start:
3,190,350 bp from pter
End:
3,204,685 bp from pter
Size:
14,336 bases
Orientation:
Minus strand

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 NFKBIB (PubMed:23675531). Interacts with CDK5RAP3 (PubMed:20228063).

    Alternative splice isoforms for DDRGK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDRGK1 Gene

Proteomics data for DDRGK1 Gene at MOPED

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 Lys 227
  • 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

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 :
  • Contains 1 PCI domain.
  • Belongs to the DDRGK1 family.
Domain:
  • Contains 1 PCI domain.
Family:
  • Belongs to the DDRGK1 family.
genes like me logo Genes that share domains with DDRGK1: view

No data available for Gene Families for DDRGK1 Gene

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 NFKBIB, the inhibitor of NF-kappa-B (PubMed:23675531). May also play a role in the cellular response to endoplasmic reticulum stress (By similarity).

Phenotypes for DDRGK1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DDRGK1

CRISPR Products

miRNA for DDRGK1 Gene

miRTarBase miRNAs that target DDRGK1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for DDRGK1 Gene COMPARTMENTS Subcellular localization image for DDRGK1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DDRGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0034976 response to endoplasmic reticulum stress IEA,ISS --
GO:0051092 positive regulation of NF-kappaB transcription factor activity IMP 23675531
GO:1901800 positive regulation of proteasomal 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 155
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:

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 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, MOPED, and MaxQB for DDRGK1 Gene



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.
genes like me logo Genes that share expression patterns with DDRGK1: view

Protein tissue co-expression partners for DDRGK1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia DDRGK1 35
  • 89.1 (n)
  • 91.67 (a)
DDRGK1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDRGK1 35
  • 87.69 (n)
  • 90.13 (a)
DDRGK1 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddrgk1 35
  • 85.24 (n)
  • 84.39 (a)
Ddrgk1 16
Ddrgk1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDRGK1 35
  • 99.47 (n)
  • 99.36 (a)
DDRGK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddrgk1 35
  • 85.9 (n)
  • 85.9 (a)
oppossum
(Monodelphis domestica)
Mammalia DDRGK1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDRGK1 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDRGK1 35
  • 67.36 (n)
  • 66.9 (a)
DDRGK1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDRGK1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485538 35
  • 70.15 (n)
  • 73.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4129 35
zebrafish
(Danio rerio)
Actinopterygii ddrgk1 35
  • 61.54 (n)
  • 59.44 (a)
zgc56488 35
ddrgk1 36
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5862 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ufbp-1 36
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for DDRGK1:
  • 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 Sequence Context AA Info Type
rs11591 - 3,190,691(-) TCATC(A/G/T)CCTGG reference, missense
rs1046644 -- 3,190,584(-) TCCCC(A/C)CCATC utr-variant-3-prime
rs731281 -- 3,202,789(+) TATGG(A/G)GGCCT intron-variant
rs731282 -- 3,202,758(+) GAGGG(C/T)TCTCC intron-variant
rs2295546 -- 3,190,982(+) ATCAG(A/G)CTGCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833898 CNV Gain+Loss 17160897
nsv912604 CNV Loss 21882294
nsv528355 CNV Loss 19592680
dgv4519n71 CNV Loss 21882294
dgv4520n71 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DDRGK1 Gene

Disorders for DDRGK1 Gene

Relevant External Links for DDRGK1

Genetic Association Database (GAD)
DDRGK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDRGK1

No disorders were found for DDRGK1 Gene.

No data available for MalaCards , 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. (Biochim. Biophys. Acta 2010) 2 3 4 67
  2. 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
  3. 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. (J. Biol. Chem. 2010) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for DDRGK1 Gene

Sources for DDRGK1 Gene

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