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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.
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
p21.1
Chromosome location (bp)
27596917 - 27614700
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 1]: Functions as extracellular chaperone that prevents aggregation of non native proteins 1,2. Prevents stress-induced aggregation of blood plasma proteins 3,4,5,6. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro) 7,8,9. Does not require ATP 10. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70 11. Does not refold proteins by itself 12. Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation 13. Protects cells against apoptosis and against cytolysis by complement 14. Intracellular forms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins 15. Promotes proteasomal degradation of COMMD1 and IKBKB 16. Modulates NF-kappa-B transcriptional activity 17. A mitochondrial form suppresses BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis 18,19. Plays a role in the regulation of cell proliferation 20. An intracellular form suppresses stress-induced apoptosis by stabilizing mitochondrial membrane integrity through interaction with HSPA5 21. Secreted form does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity 22. Secreted form act as an important modulator during neuronal differentiation through interaction with STMN3 (By similarity). Plays a role in the clearance of immune complexes that arise during cell injury (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chaperone
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0001540[amyloid-beta binding] GO:0001774[microglial cell activation] GO:0001836[release of cytochrome c from mitochondria] GO:0002376[immune system process] GO:0002434[immune complex clearance] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006629[lipid metabolic process] GO:0006915[apoptotic process] GO:0006956[complement activation] GO:0006958[complement activation, classical pathway] GO:0009615[response to virus] GO:0009986[cell surface] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0017038[protein import] GO:0031093[platelet alpha granule lumen] GO:0031333[negative regulation of protein-containing complex assembly] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0032286[central nervous system myelin maintenance] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032991[protein-containing complex] GO:0034366[spherical high-density lipoprotein particle] GO:0042127[regulation of cell population proliferation] GO:0042583[chromaffin granule] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043691[reverse cholesterol transport] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045202[synapse] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0048156[tau protein binding] GO:0048260[positive regulation of receptor-mediated endocytosis] GO:0048471[perinuclear region of cytoplasm] GO:0050750[low-density lipoprotein particle receptor binding] GO:0050821[protein stabilization] GO:0051082[unfolded protein binding] GO:0051087[chaperone binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051131[chaperone-mediated protein complex assembly] GO:0051787[misfolded protein binding] GO:0051788[response to misfolded protein] GO:0060548[negative regulation of cell death] GO:0061077[chaperone-mediated protein folding] GO:0061518[microglial cell proliferation] GO:0061740[protein targeting to lysosome involved in chaperone-mediated autophagy] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:0071944[cell periphery] GO:0072562[blood microparticle] GO:0090201[negative regulation of release of cytochrome c from mitochondria] GO:0097418[neurofibrillary tangle] GO:0097440[apical dendrite] GO:0099020[perinuclear endoplasmic reticulum lumen] GO:0140597[protein carrier chaperone] GO:1900221[regulation of amyloid-beta clearance] GO:1901214[regulation of neuron death] GO:1901216[positive regulation of neuron death] GO:1902004[positive regulation of amyloid-beta formation] GO:1902230[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage] GO:1902430[negative regulation of amyloid-beta formation] GO:1902847[regulation of neuronal signal transduction] GO:1902949[positive regulation of tau-protein kinase activity] GO:1902998[positive regulation of neurofibrillary tangle assembly] GO:1903573[negative regulation of response to endoplasmic reticulum stress] GO:1905907[negative regulation of amyloid fibril formation] GO:1905908[positive regulation of amyloid fibril formation] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
The Human Protein Atlas project is funded
