DDRGK1
DDRGK domain-containing protein 1
Also known as: C20orf116, DDRGK_HUMAN, dJ1187M17.3, UFBP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96HY6
- Gene
- DDRGK1
- Ensembl
- ENSG00000198171
- Chromosome
- 20
- Canonical length
- 314 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoli,Endoplasmic reticulum
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
314 residues, UniProt reviewed canonical sequence.
>Q96HY6|DDRGK1
1 MVAPVWYLVA AALLVGFILF LTRSRGRAAS AGQEPLHNEE LAGAGRVAQP GPLEPEEPRA
61 GGRPRRRRDL GSRLQAQRRA QRVAWAEADE NEEEAVILAQ EEEGVEKPAE THLSGKIGAK
121 KLRKLEEKQA RKAQREAEEA EREERKRLES QREAEWKKEE ERLRLEEEQK EEEERKAREE
181 QAQREHEEYL KLKEAFVVEE EGVGETMTEE QSQSFLTEFI NYIKQSKVVL LEDLASQVGL
241 RTQDTINRIQ DLLAEGTITG VIDDRGKFIY ITPEELAAVA NFIRQRGRVS IAELAQASNS
301 LIAWGRESPA QAPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDRGK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 85 nTPM
- pancreas: 81 nTPM
- liver: 73 nTPM
- choroid plexus: 69 nTPM
- cerebellum: 65 nTPM
- spinal cord: 64 nTPM
Single-cell type
- enterocytes: 193 nCPM
- syncytiotrophoblasts: 176 nCPM
- breast lactating cells: 162 nCPM
- cytotrophoblasts: 155 nCPM
- esophageal suprabasal cells: 144 nCPM
- hepatocytes: 142 nCPM
Immune cell
- plasmacytoid DC: 57 nTPM
- eosinophil: 46 nTPM
- classical monocyte: 37 nTPM
- myeloid DC: 37 nTPM
- T-reg: 36 nTPM
- memory CD8 T-cell: 36 nTPM
Brain region
- cerebral cortex: 85 nTPM
- white matter: 75 nTPM
- basal ganglia: 67 nTPM
- amygdala: 66 nTPM
- hippocampal formation: 64 nTPM
- medulla oblongata: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DDRGK1.
Disease | AllUniProt
Conditions DDRGK1 is implicated in, by any mechanism.
- Spondyloepimetaphyseal dysplasia, Shohat type (SEMDSH) MIM:602557
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 182 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondyloepimetaphyseal dysplasia, Shohat type
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.06
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.56
- DepMap mean gene effect
- -0.22
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cartilage development
- negative regulation of apoptotic process
- negative regulation of gene expression
- negative regulation of IRE1-mediated unfolded protein response
- negative regulation of PERK-mediated unfolded protein response
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of cell cycle G1/S phase transition
- positive regulation of cell migration
- positive regulation of cell population proliferation
- positive regulation of gene expression
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of plasma cell differentiation
- positive regulation of proteasomal protein catabolic process
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of protein localization to endoplasmic reticulum
- positive regulation of proteolysis involved in protein catabolic process
- positive regulation of reticulophagy
- positive regulation of transcription by RNA polymerase II
- protein K69-linked ufmylation
- protein localization to endoplasmic reticulum
- protein ufmylation
- regulation of intracellular estrogen receptor signaling pathway
- regulation of protein stability
- rescue of stalled ribosome
- response to endoplasmic reticulum stress
- reticulophagy
- ribosome disassembly
- positive regulation of I-kappaB phosphorylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- DDRGK domain containing protein
- DDRGK domain-containing protein
- DDRGK domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDRGK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DDRGK1 as an antibody target. Whether an autoantibody or antibody against DDRGK1 could matter depends on whether native DDRGK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDRGK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DDRGK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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