U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 65992, updated on 6-Nov-2022

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; AllianceGenome:HGNC:16110
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
Try the new Gene table
Try the new Transcript table

Genomic context

See DDRGK1 in Genome Data Viewer
Location:
20p13
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3190350..3204682, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3221281..3235633, complement)
105.20220307 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
Spondyloepimetaphyseal dysplasia, Shohat type
MedGen: C1865185 OMIM: 602557 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.
EBI GWAS Catalog
ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.
EBI GWAS Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog

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, Q9BW47
    Related
    ENSP00000346483.3, ENST00000354488.8
    Conserved Domains (1) summary
    pfam09756
    Location:115302
    DDRGK; DDRGK domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3221281..3235633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)