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    DDRGK1 DDRGK domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 65992, updated on 4-Jul-2021

    Summary

    Official Symbol
    DDRGK1provided by HGNC
    Official Full Name
    DDRGK domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16110
    See related
    Ensembl:ENSG00000198171 MIM:616177
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UFBP1; SEMDSH; C20orf116; dJ1187M17.3
    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. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 21.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DDRGK1 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3190350..3204682, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3170996..3185328, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985414 Neighboring gene leucine zipper tumor suppressor family member 3 Neighboring gene inosine triphosphatase Neighboring gene solute carrier family 4 member 11 Neighboring gene dynein axonemal assembly factor 9 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.
    GeneReviews: Not available
    ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.
    GeneReviews: Not available
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    GeneReviews: Not available
    Spondyloepimetaphyseal dysplasia, Shohat type
    MedGen: C1865185 OMIM: 602557 GeneReviews: Not available
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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2592

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-like protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of IRE1-mediated unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of I-kappaB phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell cycle G1/S phase transition IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K69-linked ufmylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ufmylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in reticulophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    DDRGK domain-containing protein 1
    Names
    Dashurin
    UFM1-binding and PCI domain-containing protein 1
    UFM1-binding protein 1 containing a PCI domain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_023935.3NP_076424.1  DDRGK domain-containing protein 1

      See identical proteins and their annotated locations for NP_076424.1

      Status: REVIEWED

      Source sequence(s)
      BC000643, CB305409, HY128886
      Consensus CDS
      CCDS13050.1
      UniProtKB/Swiss-Prot
      Q96HY6
      Related
      ENSP00000346483.3, ENST00000354488.8
      Conserved Domains (1) summary
      pfam09756
      Location:115302
      DDRGK; DDRGK domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      3190350..3204682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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