We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
p13
Chromosome location (bp)
3190350 - 3204685
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the UFM1 ribosome E3 ligase (UREL) complex, a multiprotein complex that catalyzes ufmylation of endoplasmic reticulum-docked proteins 1,2,3,4,5,6,7,8,9. The UREL complex plays a key role in ribosome recycling by mediating mono-ufmylation of the RPL26/uL24 subunit of the 60S ribosome following ribosome dissociation: ufmylation weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane 10,11. Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum 12,13,14. Within the UREL complex, DDRGK1 tethers the complex to the endoplasmic reticulum membrane to restrict its activity to endoplasmic reticulum-docked ribosomes and acts as an ufmylation 'reader': following RPL26/uL24 ufmylation, DDRGK1 specifically binds to ufmylated RPL26/uL24 via its UFIM motif, resulting in stable association between the 60S ribosome and the UREL complex, followed by dissociation of the 60S ribosome subunit from the endoplasmic reticulum membrane 15,16,17,18. The UREL complex is also involved in reticulophagy in response to endoplasmic reticulum stress by promoting ufmylation of proteins such as CYB5R3 and RPN1, thereby promoting lysosomal degradation of ufmylated proteins 19,20. Ufmylation-dependent reticulophagy inhibits the unfolded protein response (UPR) by regulating ERN1/IRE1-alpha stability 21,22. Acts as a regulator of immunity by promoting differentiation of B-cells into plasma cells: acts by promoting expansion of the endoplasmic reticulum and regulating the unfolded protein response (UPR) (By similarity). May also be required for TRIP4 ufmylation 23. May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B 24. Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator 25....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q96HY6 [Direct mapping] DDRGK domain-containing protein 1
Show all
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0005515[protein binding] 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:0016020[membrane] 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:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] 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]
The Human Protein Atlas project is funded
