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DDRGK1 Gene

protein-coding   GIFtS: 50
GCID: GC20M003170

DDRGK Domain Containing 1

(Previous name: chromosome 20 open reading frame 116)
(Previous symbol: C20orf116)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DDRGK Domain Containing 11 2     UFBP12
C20orf1161 2 3     dJ1187M17.32
Dashurin1 2     DDRGK Domain-Containing Protein 12
Chromosome 20 Open Reading Frame 1161     UFM1-Binding Protein 1 Containing A PCI Domain2

External Ids:    HGNC: 161101   Entrez Gene: 659922   Ensembl: ENSG000001981717   UniProtKB: Q96HY63   

Export aliases for DDRGK1 gene to outside databases

Previous GC identifers: GC20M003120 GC20M003121 GC20M003122


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DDRGK1 Gene:
DDRGK1 (DDRGK domain containing 1) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDRGK1 gene promoter:
         RFX1   Spz1   ISGF-3   Sp1   Pbx1a   LUN-1   c-Ets-1   Ik-2   CP2   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDRGK1 promoter sequence
   Search Chromatin IP Primers for DDRGK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDRGK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

DDRGK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDRGK1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M003170:  view genomic region     (about GC identifiers)

Start:
3,170,996 bp from pter      End:
3,185,331 bp from pter
Size:
14,336 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6 (See protein sequence)
Recommended Name: DDRGK domain-containing protein 1 precursor  
Size: 314 amino acids; 35611 Da
Secondary accessions: A6NIU5 C9JSZ5 Q9BW47
Alternative splicing: 2 isoforms:  Q96HY6-1   Q96HY6-2   

Explore the universe of human proteins at neXtProt for DDRGK1: NX_Q96HY6

Explore proteomics data for DDRGK1 at MOPED

Post-translational modifications: 

  • Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267. The role of ufmylation is unclear1
  • Ubiquitination2 at Lys227
  • Modification sites at PhosphoSitePlus

  • See DDRGK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_076424.1  
    ENSEMBL proteins: 
     ENSP00000346483   ENSP00000369548  

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    Cloud-Clone Corp. Proteins for DDRGK1

     
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    Cloud-Clone Corp. ELISAs for DDRGK1
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    Search eBioscience for ELISAs for DDRGK1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019153 DDRGK_dom-contain

    Graphical View of Domain Structure for InterPro Entry Q96HY6

    ProtoNet protein and cluster: Q96HY6

    1 Blocks protein domain: IPB000717 Domain in components of the proteasome

    UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6
    Similarity: Belongs to the DDRGK1 family
    Similarity: Contains 1 PCI domain


    Find genes that share domains with DDRGK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with DDRGK1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDRGK1
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    miRNA
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    miRTarBase miRNAs that target DDRGK1:
    hsa-mir-155-5p (MIRT020874), hsa-mir-92a-3p (MIRT049458)

    Block miRNA regulation of human, mouse, rat DDRGK1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate DDRGK1:
    hsa-miR-4291 hsa-miR-3142 hsa-miR-513a-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDRGK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDRGK1

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    Sino Biological Human cDNA Clone for DDRGK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDRGK1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DDRGK_HUMAN, Q96HY6: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular3
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--

    Find genes that share ontologies with DDRGK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDRGK1
    Interactions:

        Search GeneGlobe Interaction Network for DDRGK1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DDRGK1 (Q96HY61, 3 ENSP000003464834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK5RAP3Q96JB51, 3, ENSP000003446834EBI-1054024,EBI-718818 I2D: score=2 STRING: ENSP00000344683
    UFL1O948743, ENSP000003582834I2D: score=5 STRING: ENSP00000358283
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DDRGK1 (DDRGK)

    1 PharmGKB related drug/compound annotation for DDRGK1 gene    About this table
    Drug/compound PharmGKB Annotation
    azathioprineCA  



    Find genes that share compounds with DDRGK1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DDRGK1 gene: 
    NM_023935.1  

    Unigene Cluster for DDRGK1:

    DDRGK domain containing 1
    Hs.471975  [show with all ESTs]
    Unigene Representative Sequence: AK310809
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496781 ENST00000354488(uc002wic.3) ENST00000470203 ENST00000380201(uc010gax.1)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate DDRGK1:
    hsa-miR-4291 hsa-miR-3142 hsa-miR-513a-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDRGK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDRGK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDRGK1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDRGK1
      QuantiTect SYBR Green Assays in human, mouse, rat DDRGK1
      QuantiFast Probe-based Assays in human, mouse, rat DDRGK1

    Additional mRNA sequence: 

    AF086090.1 AK310809.1 BC000643.1 BC007957.1 BC011851.1 

    10 DOTS entries:

    DT.100816724  DT.116418  DT.40305266  DT.120819851  DT.100816718  DT.100816722  DT.91812988  DT.120819836 
    DT.91746425  DT.95099689 

    Selected AceView cDNA sequences (see all 233):

    BM972586 BP431648 BG115928 C21282 BM699665 AA298320 BM799784 BM782105 
    CF127530 CR625227 AI084140 AA484806 AA652964 BG110191 BQ574491 BM564917 
    AA075563 BE503168 BC011851 BM765927 BM703050 BM704207 BE892265 AA427708 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DDRGK1    About this scheme

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


    ECgene alternative splicing isoforms for DDRGK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DDRGK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGAGGAAC
    DDRGK1 Expression
    About this image

    DDRGK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDRGK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471975

    UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6
    Tissue specificity: Ubiquitously expressed (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDRGK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DDRGK1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddrgk11 , 5 DDRGK domain containing 11, 5 85.24(n)1
    84.39(a)1
      2 (63.24 cM)5
    770061  NM_029832.21  NP_084108.11 
     1306539605 
    chicken
    (Gallus gallus)
    Aves DDRGK11 DDRGK domain containing 1 67.36(n)
    66.9(a)
      422941  XM_420879.4  XP_420879.2 
    lizard
    (Anolis carolinensis)
    Reptilia DDRGK16
    DDRGK domain containing 1
    58(a)
    1 ↔ 1
    GL343301.1(1562468-1596122)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.41292 Xenopus laevis transcribed sequence with moderate similarity more 75.04(n)    48063209 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564882 hypothetical protein MGC56488 75.02(n)   393263  BC049458.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58626
    --
    41(a)
    1 ↔ 1
    3R(17040801-17041948)
    worm
    (Caenorhabditis elegans)
    Secernentea ufbp-16
    Protein ZK1236.7, isoform a
    35(a)
    1 ↔ 1
    III(8439468-8443607) WBGene00022865


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DDRGK1 (see all 471)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496181611,2
    --3170568(+) CACCAC/GTGGGT 1 -- int10--------
    rs1443675971,2
    --3170600(+) ACTTTC/TTGTCA 1 -- int10--------
    rs1890065651,2
    --3170604(+) TTTGTC/TAAGGA 1 -- int10--------
    rs1813865511,2
    --3170611(+) AGGATA/GTAGAG 1 -- int10--------
    rs1401841181,2
    --3170701(+) CTTCCC/TTCTAC 1 -- int10--------
    rs1431659201,2
    C--3170784(+) CTATCC/TTTGAT 1 -- int10--------
    rs1466783281,2
    --3170816(+) CCGCTG/TGCTCT 1 -- int10--------
    rs1391829811,2
    C--3170926(+) TGAGTG/TGGGGC 1 -- int10--------
    rs584390541,2
    C,F--3170939(+) AAGAAG/CAGAAA 1 -- int14Minor allele frequency- C:0.18WA CSA NA 242
    rs38309331,2
    C--3170992(+) GAAAC-/AGAGTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for DDRGK1 (3170996 - 3185331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DDRGK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4520n71CNV Loss21882294
    nsv912604CNV Loss21882294
    dgv4519n71CNV Loss21882294
    nsv528355CNV Loss19592680
    nsv833898CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): DDRGK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDRGK1
    DNA2.0 Custom Variant and Variant Library Synthesis for DDRGK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with DDRGK1           About GenesLikeMe

    Genetic Association Database (GAD): DDRGK1

    Export disorders for DDRGK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DDRGK1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with DDRGK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis. (PubMed id 21494687)1, 3 Lemaire K....Schuit F. (PLoS ONE 2011)
    2. Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C. (PubMed id 21659334)1, 4 Tanaka Y....Mizokami M. (Hum. Mol. Genet. 2011)
    3. Cloning and molecular characterization of Dashurin encoded by C20orf116, a PCI-domain containing protein. (PubMed id 20036718)1, 3 Neziri D....Wagner L. (Biochim. Biophys. Acta 2010)
    4. A novel type of E3 ligase for the Ufm1 conjugation system. (PubMed id 20018847)1, 2 Tatsumi K.... Komatsu M. (J. Biol. Chem. 2010)
    5. A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling. (PubMed id 20228063)1, 3 Wu J....Li H. (J. Biol. Chem. 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. DDRGK1 regulates NF-I_B activity by modulating II_BI+ stability. (PubMed id 23675531)1 Xi P....Cong Y.S. (PLoS ONE 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65992 HGNC: 16110 AceView: C20orf116 Ensembl:ENSG00000198171 euGenes: HUgn65992
    ECgene: DDRGK1 H-InvDB: DDRGK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DDRGK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDRGK1 gene:
    Search GeneIP for patents involving DDRGK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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