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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).
Plasma proteins Transporters
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
8
Cytoband
q24.13
Chromosome location (bp)
123013170 - 123042302
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins 1,2. Forms homotetramers which encircle a large channel traversing the endoplasmic reticulum (ER) membrane 3. This allows the retrotranslocation of misfolded proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome 4. The channel has a lateral gate within the membrane which provides direct access to membrane proteins with no need to reenter the ER lumen first 5. May mediate the interaction between VCP and the misfolded protein 6. Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation 7. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway 8....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction, Protein transport, Transport, Unfolded protein response
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]...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.
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000839[Hrd1p ubiquitin ligase ERAD-L complex] GO:0002020[protease binding] GO:0005047[signal recognition particle binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006950[response to stress] GO:0006986[response to unfolded protein] GO:0010498[proteasomal protein catabolic process] GO:0015031[protein transport] GO:0016020[membrane] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0030970[retrograde protein transport, ER to cytosol] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031648[protein destabilization] GO:0032092[positive regulation of protein binding] GO:0036502[Derlin-1-VIMP complex] GO:0036503[ERAD pathway] GO:0036513[Derlin-1 retrotranslocation complex] GO:0038023[signaling receptor activity] GO:0042288[MHC class I protein binding] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0051117[ATPase binding] GO:0051787[misfolded protein binding] GO:0071712[ER-associated misfolded protein catabolic process] GO:1990381[ubiquitin-specific protease binding]
The Human Protein Atlas project is funded
