DDRGK1 - DDRGK domain containing 1 Gene

Homo sapiens

Also known as UFBP1; SEMDSH; C20orf116; dJ1187M17.3

Gene ID: 65992 | Gene type: protein coding

About DDRGK1

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,190,350-3,204,682 (from NCBI)

This gene has 4 transcripts (splice variants), 170 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 21.4) and 25 other tissues.

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]

DDRGK1 Products(1)

mRNA	Protein	Name
NM_023935.3	NP_076424.1	DDRGK domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA IDA: Inferred from direct assay	23675531	GOA
enables UFM1-modified protein reader activity	IDA IDA: Inferred from direct assay	36121123	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20018847	GOA
enables ubiquitin-like protein ligase binding	IPI IPI: Inferred from physical interaction	25219498	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cartilage development	IMP IMP: Inferred from mutant phenotype	28263186	GOA
involved in negative regulation of IRE1-mediated unfolded protein response	IDA IDA: Inferred from direct assay	28128204	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	28263186	GOA
involved in positive regulation of I-kappaB phosphorylation	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of metallopeptidase activity	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in positive regulation of proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	36543799	GOA
involved in positive regulation of reticulophagy	IDA IDA: Inferred from direct assay	36543799	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	23675531	GOA
involved in protein K69-linked ufmylation	IDA IDA: Inferred from direct assay	25219498	GOA
involved in protein localization to endoplasmic reticulum	IDA IDA: Inferred from direct assay	32160526	GOA
involved in protein ufmylation	IDA IDA: Inferred from direct assay	32160526	GOA
involved in protein ufmylation	IMP IMP: Inferred from mutant phenotype	30626644	GOA
involved in regulation of intracellular estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	25219498	GOA
involved in regulation of protein stability	IDA IDA: Inferred from direct assay	28128204	GOA
involved in rescue of stalled ribosome	IDA IDA: Inferred from direct assay	37595036	GOA
involved in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	28128204	GOA
involved in reticulophagy	IDA IDA: Inferred from direct assay	32160526	GOA
involved in ribosome disassembly	IDA IDA: Inferred from direct assay	38383785	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20018847	GOA
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	36543799	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	20228063	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDRGK1 Protein Structure

DDRGK

0
100
200
314 a.a.

Protein Preferred Names

Protein Names

DDRGK domain-containing protein 1

Dashurin

Related Diseases

Diseases

Alias

Spondyloepimetaphyseal Dysplasia, Shohat Type

Semd, Shohat Type	SEMDSH
Spondyloepimetaphyseal Dysplasia Shohat Type	Semd Shohat Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type	Beukes Familial Hip Dysplasia
BFHD	Cilliers-Beighton Syndrome
Osteoarthropathy, Premature Degenerative, Of Hip	Premature Degenerative Osteoarthropathy Of The Hip
BHD	Beukes Type Hip Dysplasia
Hip Dysplasia Beukes Type	Premature Degenerative Osteoarthropathy
Dysplasia, Hip, Beukes Type

Renal Cysts And Diabetes Syndrome

RCAD	Mody5
Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes	Cakut With Diabetes
Maturity-Onset Diabetes Of The Young Type 5	Tubulointerstitial Kidney Disease, Autosomal Dominant, 3
Adtkd3	Atypical Familial Juvenile Hyperuricemic Nephropathy
Atypical Fjhn	Familial Hypoplastic Glomerulocystic Kidney
Maturity-Onset Diabetes Of The Young, Type 5	Hyperuricemic Nephropathy, Familial Juvenile, Atypical
Fjhn, Atypical	Glomerulocystic Kidney Disease, Hypoplastic Type
Glomerulocystic Kidney, Familial Hypoplastic	Hypoplastic Type Glomerulocystic Kidney Disease
Glomerulocystic Kidney Disease Hypoplastic Type	Renal-Diabetes Mody5 Syndrome

Developmental And Epileptic Encephalopathy 44

DEE44	Epileptic Encephalopathy, Early Infantile, 44
Eiee44	Developmental And Epileptic Encephalopathy, 44
Early Infantile Epileptic Encephalopathy 44	Encephalopathy, Epileptic, Early Infantile, Type 44

Metachondromatosis

METCDS

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03626	DDRGK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DDRGK1	MGD	MGI:1924256
Bos taurus	DDRGK1	VGNC	VGNC:27954
Rattus norvegicus	DDRGK1	RGD	RGD:1309979
Canis familiaris	DDRGK1	VGNC	VGNC:39843
Macaca mulatta	DDRGK1	VGNC	VGNC:107785
Felis catus	DDRGK1	VGNC	VGNC:80081

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