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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).
Disease related genes Enzymes Plasma proteins Potential drug targets
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
q24.3
Chromosome location (bp)
140520156 - 140635633
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Manganese, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]...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.
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000340[RNA 7-methylguanosine cap binding] GO:0000932[P-body] GO:0000993[RNA polymerase II complex binding] GO:0001046[core promoter sequence-specific DNA binding] GO:0003676[nucleic acid binding] GO:0003723[RNA binding] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0003729[mRNA binding] GO:0003743[translation initiation factor activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004521[endoribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005844[polysome] GO:0005845[mRNA cap binding complex] GO:0006355[regulation of DNA-templated transcription] GO:0006412[translation] GO:0006413[translational initiation] GO:0006417[regulation of translation] GO:0008022[protein C-terminus binding] GO:0009791[post-embryonic development] GO:0010501[RNA secondary structure unwinding] GO:0010586[miRNA metabolic process] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0016442[RISC complex] GO:0016787[hydrolase activity] GO:0016891[endoribonuclease activity, producing 5'-phosphomonoesters] GO:0030422[siRNA processing] GO:0030425[dendrite] GO:0031047[gene silencing by RNA] GO:0031054[pre-miRNA processing] GO:0035194[post-transcriptional gene silencing by RNA] GO:0035196[miRNA processing] GO:0035197[siRNA binding] GO:0035198[miRNA binding] GO:0035278[miRNA-mediated gene silencing by inhibition of translation] GO:0035279[miRNA-mediated gene silencing by mRNA destabilization] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042985[negative regulation of amyloid precursor protein biosynthetic process] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045947[negative regulation of translational initiation] GO:0046872[metal ion binding] GO:0060213[positive regulation of nuclear-transcribed mRNA poly(A) tail shortening] GO:0061980[regulatory RNA binding] GO:0070062[extracellular exosome] GO:0070551[endoribonuclease activity, cleaving siRNA-paired mRNA] GO:0070578[RISC-loading complex] GO:0070922[RISC complex assembly] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:0090624[endoribonuclease activity, cleaving miRNA-paired mRNA] GO:0090625[siRNA-mediated gene silencing by mRNA destabilization] GO:0098808[mRNA cap binding] GO:1900153[positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay] GO:1901165[positive regulation of trophoblast cell migration] GO:1990904[ribonucleoprotein complex]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000340[RNA 7-methylguanosine cap binding] GO:0000932[P-body] GO:0000993[RNA polymerase II complex binding] GO:0001046[core promoter sequence-specific DNA binding] GO:0003676[nucleic acid binding] GO:0003723[RNA binding] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0003743[translation initiation factor activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004521[endoribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005844[polysome] GO:0005845[mRNA cap binding complex] GO:0006355[regulation of DNA-templated transcription] GO:0006412[translation] GO:0006413[translational initiation] GO:0006417[regulation of translation] GO:0008022[protein C-terminus binding] GO:0010501[RNA secondary structure unwinding] GO:0016020[membrane] GO:0016442[RISC complex] GO:0016787[hydrolase activity] GO:0016891[endoribonuclease activity, producing 5'-phosphomonoesters] GO:0030422[siRNA processing] GO:0031047[gene silencing by RNA] GO:0031054[pre-miRNA processing] GO:0035194[post-transcriptional gene silencing by RNA] GO:0035196[miRNA processing] GO:0035197[siRNA binding] GO:0035198[miRNA binding] GO:0035278[miRNA-mediated gene silencing by inhibition of translation] GO:0035279[miRNA-mediated gene silencing by mRNA destabilization] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042985[negative regulation of amyloid precursor protein biosynthetic process] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045947[negative regulation of translational initiation] GO:0046872[metal ion binding] GO:0060213[positive regulation of nuclear-transcribed mRNA poly(A) tail shortening] GO:0061980[regulatory RNA binding] GO:0070062[extracellular exosome] GO:0070551[endoribonuclease activity, cleaving siRNA-paired mRNA] GO:0070578[RISC-loading complex] GO:0070922[RISC complex assembly] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:0090624[endoribonuclease activity, cleaving miRNA-paired mRNA] GO:0090625[siRNA-mediated gene silencing by mRNA destabilization] GO:0098808[mRNA cap binding] GO:1900153[positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay] GO:1901165[positive regulation of trophoblast cell migration] GO:1990904[ribonucleoprotein complex]
The Human Protein Atlas project is funded
