Ddrgk1 DDRGK domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ddrgk1provided by MGI
Official Full Name: DDRGK domain containing 1provided by MGI
Primary source: MGI:MGI:1924256
See related: Ensembl:ENSMUSG00000068290 AllianceGenome:MGI:1924256
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ufbp1; 1110001I20Rik; 2600009E05Rik
Summary: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and ubiquitin-like protein ligase binding activity. Involved in several processes, including cartilage development; negative regulation of IRE1-mediated unfolded protein response; and positive regulation of protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. Is expressed in central nervous system; genitourinary system; heart; and liver. Orthologous to human DDRGK1 (DDRGK domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 21.2), bladder adult (RPKM 20.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.24 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (130495955..130506549, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (130654033..130664654, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDRGK1-mediated ER-phagy attenuates acute kidney injury through ER-stress and apoptosis.
Title: DDRGK1-mediated ER-phagy attenuates acute kidney injury through ER-stress and apoptosis.
Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia.
Title: Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.
Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis.
Title: Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis.
Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling.
Title: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling.
A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila.
Title: A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila.
DDRGK1, a crucial player of ufmylation system, is indispensable for autophagic degradation by regulating lysosomal function.
Title: DDRGK1, a crucial player of ufmylation system, is indispensable for autophagic degradation by regulating lysosomal function.
Study shows that Ufbp1-mediated suppression of PERK has an essential function in the differentiation of naive B cells into plasma cells. In addition, Ufbp1 is upregulated downstream of IRE1alpha /XBP1 pathway to critically enforce the expansion of endoplasmic reticulum network and function of plasma cells.
Title: Ufbp1 promotes plasma cell development and ER expansion by modulating distinct branches of UPR.
Study results provide evidence that DDRGK1 is essential for endoplasmic reticulum (ER) homeostasis regulation in both human cancer cells and mouse hematopoietic stem cells. Depletion of DDRGK1 activates apoptotic pathway by targeting the ER-stress sensor IRE1alpha. DDRGK1 regulates IRE1alpha protein stability via its interaction with the kinase domain of IRE1alpha.
Title: A critical role of DDRGK1 in endoplasmic reticulum homoeostasis via regulation of IRE1α stability.
findings suggest that UFBP1, along with ASC1 and other ufmylation components, play pleiotropic roles in regulation of hematopoietic cell survival and differentiation via modulating ER homeostasis and erythroid lineage-specific gene expression
Title: UFBP1, a Key Component of the Ufm1 Conjugation System, Is Essential for Ufmylation-Mediated Regulation of Erythroid Development.
These data suggest that UFM1-UFBP1 participate in preventing endoplasmic reticulum stress-induced apoptosis in protein secretory cells.
Title: Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI326138 (e-PCR)
- UniSTS:159031

RH137451 (e-PCR)
- UniSTS:219539

NoName (e-PCR)
- UniSTS:488953

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cartilage development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cartilage development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of IRE1-mediated unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of IRE1-mediated unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of IRE1-mediated unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of I-kappaB phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of metallopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein K69-linked ufmylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K69-linked ufmylation	ISO Inferred from Sequence Orthology more info
involved_in protein localization to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in protein ufmylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in reticulophagy	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DDRGK domain-containing protein 1

Names: UFM1-binding and PCI domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain

NCBI Reference Sequences (RefSeq)

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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)

NM_001418865.1 → NP_001405794.1 DDRGK domain-containing protein 1 isoform b

Status: VALIDATED

Source sequence(s)

AL731707, AL772162
NM_001418866.1 → NP_001405795.1 DDRGK domain-containing protein 1 isoform b

Status: VALIDATED

Source sequence(s)

AL731707, AL772162
NM_001418867.1 → NP_001405796.1 DDRGK domain-containing protein 1 isoform c

Status: VALIDATED

Source sequence(s)

AL731707, AL772162
NM_029832.3 → NP_084108.1 DDRGK domain-containing protein 1 isoform a precursor

See identical proteins and their annotated locations for NP_084108.1

Status: VALIDATED

Source sequence(s)

AL731707, AL772162

Consensus CDS

CCDS38243.1

UniProtKB/Swiss-Prot

Q14BT4, Q80WW9, Q9CT52

Related

ENSMUSP00000086988.5, ENSMUST00000089559.11

Conserved Domains (1) summary

pfam09756
Location:116 → 304

DDRGK; DDRGK domain

RNA

NR_184839.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731707, AL772162
NR_184840.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731707, AL772162
NR_184841.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731707, AL772162