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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
5
Cytoband
p15.33
Chromosome location (bp)
271621 - 314974
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes 1,2. Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes 3. Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats 4. In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification 5. Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway 6. Promotes localization and polymerization of TFG at endoplasmic reticulum exit site 7. Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity 8. Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway 9. In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution 10....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Angiogenesis, Apoptosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Magnesium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 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 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.
O75340 [Direct mapping] Programmed cell death protein 6
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Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0000287[magnesium ion binding] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0010595[positive regulation of endothelial cell migration] GO:0012507[ER to Golgi transport vesicle membrane] GO:0014029[neural crest formation] GO:0014032[neural crest cell development] GO:0016020[membrane] GO:0030127[COPII vesicle coat] GO:0030674[protein-macromolecule adaptor activity] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031410[cytoplasmic vesicle] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0032007[negative regulation of TOR signaling] GO:0034605[cellular response to heat] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043495[protein-membrane adaptor activity] GO:0045766[positive regulation of angiogenesis] GO:0046872[metal ion binding] GO:0046983[protein dimerization activity] GO:0048208[COPII vesicle coating] GO:0048306[calcium-dependent protein binding] GO:0051592[response to calcium ion] GO:0051898[negative regulation of protein kinase B signaling] GO:0070062[extracellular exosome] GO:0070971[endoplasmic reticulum exit site] GO:0097190[apoptotic signaling pathway] GO:1902527[positive regulation of protein monoubiquitination] GO:1990756[ubiquitin ligase-substrate adaptor activity]
O75340 [Direct mapping] Programmed cell death protein 6
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Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000287[magnesium ion binding] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0010595[positive regulation of endothelial cell migration] GO:0012507[ER to Golgi transport vesicle membrane] GO:0014029[neural crest formation] GO:0014032[neural crest cell development] GO:0016020[membrane] GO:0030127[COPII vesicle coat] GO:0030674[protein-macromolecule adaptor activity] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031410[cytoplasmic vesicle] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0032007[negative regulation of TOR signaling] GO:0034605[cellular response to heat] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043495[protein-membrane adaptor activity] GO:0045766[positive regulation of angiogenesis] GO:0046872[metal ion binding] GO:0046983[protein dimerization activity] GO:0048208[COPII vesicle coating] GO:0048306[calcium-dependent protein binding] GO:0051592[response to calcium ion] GO:0051898[negative regulation of protein kinase B signaling] GO:0070062[extracellular exosome] GO:0070971[endoplasmic reticulum exit site] GO:0097190[apoptotic signaling pathway] GO:1902527[positive regulation of protein monoubiquitination] GO:1990756[ubiquitin ligase-substrate adaptor activity]
H0Y9X3 [Direct mapping] Programmed cell death protein 6
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
O75340 [Direct mapping] Programmed cell death protein 6
Show all
Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000287[magnesium ion binding] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0010595[positive regulation of endothelial cell migration] GO:0012507[ER to Golgi transport vesicle membrane] GO:0014029[neural crest formation] GO:0014032[neural crest cell development] GO:0016020[membrane] GO:0030127[COPII vesicle coat] GO:0030674[protein-macromolecule adaptor activity] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031410[cytoplasmic vesicle] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0032007[negative regulation of TOR signaling] GO:0034605[cellular response to heat] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043495[protein-membrane adaptor activity] GO:0045766[positive regulation of angiogenesis] GO:0046872[metal ion binding] GO:0046983[protein dimerization activity] GO:0048208[COPII vesicle coating] GO:0048306[calcium-dependent protein binding] GO:0051592[response to calcium ion] GO:0051898[negative regulation of protein kinase B signaling] GO:0070062[extracellular exosome] GO:0070971[endoplasmic reticulum exit site] GO:0097190[apoptotic signaling pathway] GO:1902527[positive regulation of protein monoubiquitination] GO:1990756[ubiquitin ligase-substrate adaptor activity]
The Human Protein Atlas project is funded
