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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).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets 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
17
Cytoband
p13.2
Chromosome location (bp)
5432777 - 5448830
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades 21,22,23,24. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93 25,26. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK 27. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading 28,29,30. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway 31. Required for protein synthesis in mitochondria 32. In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity (By similarity). May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles (By similarity). Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation 33,34. Is required for the nuclear translocation of splicing factor U2AF1L4 (By similarity). Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF 35. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription 36,37. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase 38. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells 39,40. Involved in regulation of antiviral response by inhibiting RIGI- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection 41. Acts as a regulator of DNA repair via homologous recombination by inhibiting the activity of MRE11: interacts with unphosphorylated MRE11 and RAD50 in absence of DNA damage, preventing formation and activity of the MRN complex. Following DNA damage, dissociates from phosphorylated MRE11, allowing formation of the MRN complex 42....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]...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 Predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001849[complement component C1q complex binding] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0003714[transcription corepressor activity] GO:0003729[mRNA binding] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005540[hyaluronic acid binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006397[mRNA processing] GO:0006915[apoptotic process] GO:0006955[immune response] GO:0006958[complement activation, classical pathway] GO:0008134[transcription factor binding] GO:0008380[RNA splicing] GO:0009986[cell surface] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0030449[regulation of complement activation] GO:0030984[kininogen binding] GO:0031690[adrenergic receptor binding] GO:0032689[negative regulation of interferon-gamma production] GO:0032695[negative regulation of interleukin-12 production] GO:0039534[negative regulation of MDA-5 signaling pathway] GO:0039536[negative regulation of RIG-I signaling pathway] GO:0042254[ribosome biogenesis] GO:0042256[mature ribosome assembly] GO:0043065[positive regulation of apoptotic process] GO:0045087[innate immune response] GO:0045785[positive regulation of cell adhesion] GO:0048025[negative regulation of mRNA splicing, via spliceosome] GO:0048786[presynaptic active zone] GO:0050687[negative regulation of defense response to virus] GO:0051897[positive regulation of protein kinase B signaling] GO:0070131[positive regulation of mitochondrial translation] GO:0090023[positive regulation of neutrophil chemotaxis] GO:0097177[mitochondrial ribosome binding] GO:0098978[glutamatergic synapse] GO:0098982[GABA-ergic synapse] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading] GO:1901165[positive regulation of trophoblast cell migration] GO:2000510[positive regulation of dendritic cell chemotaxis]
Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
