Entity Details

Primary name DDRGK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96HY6
EntryNameDDRGK_HUMAN
FullNameDDRGK domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length314
SequenceStatuscomplete
DateCreated2003-09-26
DateModified2021-06-02

Ontological Relatives

GenesDDRGK1

GO terms

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GOName
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0008284 positive regulation of cell population proliferation
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0030335 positive regulation of cell migration
GO:0031647 regulation of protein stability
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0033146 regulation of intracellular estrogen receptor signaling pathway
GO:0034976 response to endoplasmic reticulum stress
GO:0043066 negative regulation of apoptotic process
GO:0044389 ubiquitin-like protein ligase binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051216 cartilage development
GO:0061709 reticulophagy
GO:0070972 protein localization to endoplasmic reticulum
GO:0071569 protein ufmylation
GO:1901800 positive regulation of proteasomal protein catabolic process
GO:1902808 positive regulation of cell cycle G1/S phase transition
GO:1903721 positive regulation of I-kappaB phosphorylation
GO:1903895 negative regulation of IRE1-mediated unfolded protein response
GO:1905050 positive regulation of metallopeptidase activity
GO:1905552 positive regulation of protein localization to endoplasmic reticulum
GO:1905636 positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding
GO:1990592 protein K69-linked ufmylation

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR019153 DDRGK domain containing proteinFamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
602557 OMIMSpondyloepimetaphyseal dysplasia, Shohat type (SEMDSH)An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. The disease is caused by variants affecting the gene represented in this entry.