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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
14
Cytoband
q22.1
Chromosome location (bp)
52639915 - 52695900
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins 1. Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Electron transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
FAD, Flavoprotein
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables oxidoreductase activity. Involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]...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 Accessory Factors Involved in Transport Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005796[Golgi lumen] GO:0006457[protein folding] GO:0006915[apoptotic process] GO:0006979[response to oxidative stress] GO:0009266[response to temperature stimulus] GO:0015035[protein-disulfide reductase activity] GO:0015036[disulfide oxidoreductase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016972[thiol oxidase activity] GO:0018401[peptidyl-proline hydroxylation to 4-hydroxy-L-proline] GO:0022417[protein maturation by protein folding] GO:0030070[insulin processing] GO:0030198[extracellular matrix organization] GO:0030425[dendrite] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0034975[protein folding in endoplasmic reticulum] GO:0034976[response to endoplasmic reticulum stress] GO:0036211[protein modification process] GO:0042995[cell projection] GO:0043231[intracellular membrane-bounded organelle] GO:0045454[cell redox homeostasis] GO:0050873[brown fat cell differentiation] GO:0051085[chaperone cofactor-dependent protein refolding] GO:0051209[release of sequestered calcium ion into cytosol] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0071456[cellular response to hypoxia] GO:0071949[FAD binding]
The Human Protein Atlas project is funded
