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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDRGK1 Gene

protein-coding   GIFtS: 48
GCID: GC20M003170

DDRGK Domain Containing 1

(Previous name: chromosome 20 open reading frame 116)
(Previous symbol: C20orf116)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DDRGK1 Gene: 
DDRGK1 (DDRGK domain containing 1) is a protein-coding gene. Diseases associated with DDRGK1 include thrombocytopenia, and hepatitis c. GO annotations related to this gene include protein binding.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DDRGK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6 (See protein sequence)
Recommended Name: DDRGK domain-containing protein 1 precursor  
Size: 314 amino acids; 35611 Da
Subcellular location: Endoplasmic reticulum
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:

  • UniProtKB: Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267. The role of ufmylation is unclear
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96HY6

  • DDRGK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DDRGK1 Protein Expression
    REFSEQ proteins: NP_076424.1  
    ENSEMBL proteins: 
     ENSP00000346483   ENSP00000369548  

    Human Recombinant Protein Products for DDRGK1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDRGK1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    DDRGK1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for DDRGK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    DDRGK1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    DDRGK1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DDRGK1 
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    SwitchGear 3'UTR luciferase reporter plasmidDDRGK1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDRGK1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDRGK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDRGK1 (DDRGK)

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

    Search CenterWatch for drugs/clinical trials and news about DDRGK1 / DDRGK

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA 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
    Products:
         
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                         Customized lentivirus expression plasmids for stable overexpression of DDRGK1 
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    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 

    24/233 AceView cDNA sequences (see all 233):

    BM699665 AW328644 BM554863 AA485682 BE504578 BM704207 BM972586 AW630851 
    CA412597 AA075563 CA307728 AA532363 BE503168 BM703050 BM545118 CR625227 
    CF127530 C21282 BM789629 BF796315 CA748682 BM799784 AA427708 AA484806 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See DDRGK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDRGK1

    SOURCE GeneReport for Unigene cluster: Hs.471975

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

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDRGK1 gene from 8/16 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 68.19(n)
    68.07(a)
      422941  XM_420879.3  XP_420879.2 
    lizard
    (Anolis carolinensis)
    Reptilia DDRGK16
    Uncharacterized protein
    57(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 CG58621 CG5862 53.5(n)
    43.71(a)
      42516  NM_142697.3  NP_650954.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_ZK1236.71 Protein ZK1236.7 50.2(n)
    44.58(a)
      176194  NM_066466.2  NP_498867.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G271201 DDRGK domain-containing protein 1 48.19(n)
    45.35(a)
      828820  NM_118846.3  NP_567767.1 


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/471 SNPs in DDRGK1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DDRGK1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for DDRGK1:    About MalaCards
    thrombocytopenia    hepatitis c    anemia    hepatitis
    pancreatitis


    DDRGK1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for DDRGK1 gene, integrated from 9 sources (see all 17):
    (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. (2011)
    2. Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin ther apy for chronic hepatitis C. (PubMed id 21659334)1, 4 Tanaka Y....Mizokami M. (2011)
    3. Cloning and molecular characterization of Dashurin en coded by C20orf116, a PCI-domain containing protein. (PubMed id 20036718)1, 3 Neziri D....Wagner L. (2010)
    4. A novel type of E3 ligase for the Ufm1 conjugation system. (PubMed id 20018847)1, 2 Tatsumi K.... Komatsu M. (2010)
    5. A novel C53/LZAP-interacting protein regulates stabil ity of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF -kappaB signaling. (PubMed id 20228063)1, 3 Wu J....Li H. (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. (2004)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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