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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 Human disease related genes
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
12
Cytoband
q15
Chromosome location (bp)
70243002 - 70354993
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of embryonic stem (ES) cell identity....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000289[nuclear-transcribed mRNA poly(A) tail shortening] GO:0000932[P-body] GO:0001222[transcription corepressor binding] GO:0001829[trophectodermal cell differentiation] GO:0003712[transcription coregulator activity] GO:0004535[poly(A)-specific ribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006417[regulation of translation] GO:0010606[positive regulation of cytoplasmic mRNA processing body assembly] GO:0016020[membrane] GO:0030014[CCR4-NOT complex] GO:0030015[CCR4-NOT core complex] GO:0031047[gene silencing by RNA] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0090503[RNA phosphodiester bond hydrolysis, exonucleolytic] GO:2000036[regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000289[nuclear-transcribed mRNA poly(A) tail shortening] GO:0000932[P-body] GO:0001222[transcription corepressor binding] GO:0003712[transcription coregulator activity] GO:0004535[poly(A)-specific ribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006417[regulation of translation] GO:0010606[positive regulation of cytoplasmic mRNA processing body assembly] GO:0016020[membrane] GO:0030014[CCR4-NOT complex] GO:0030015[CCR4-NOT core complex] GO:0031047[gene silencing by RNA] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0090503[RNA phosphodiester bond hydrolysis, exonucleolytic] GO:2000036[regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006355[regulation of DNA-templated transcription] GO:0030015[CCR4-NOT core complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000289[nuclear-transcribed mRNA poly(A) tail shortening] GO:0000932[P-body] GO:0001222[transcription corepressor binding] GO:0003712[transcription coregulator activity] GO:0004535[poly(A)-specific ribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006417[regulation of translation] GO:0010606[positive regulation of cytoplasmic mRNA processing body assembly] GO:0016020[membrane] GO:0030014[CCR4-NOT complex] GO:0030015[CCR4-NOT core complex] GO:0031047[gene silencing by RNA] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0090503[RNA phosphodiester bond hydrolysis, exonucleolytic] GO:2000036[regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000289[nuclear-transcribed mRNA poly(A) tail shortening] GO:0000932[P-body] GO:0001222[transcription corepressor binding] GO:0003712[transcription coregulator activity] GO:0004535[poly(A)-specific ribonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006417[regulation of translation] GO:0010606[positive regulation of cytoplasmic mRNA processing body assembly] GO:0016020[membrane] GO:0030014[CCR4-NOT complex] GO:0030015[CCR4-NOT core complex] GO:0031047[gene silencing by RNA] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0090503[RNA phosphodiester bond hydrolysis, exonucleolytic] GO:2000036[regulation of stem cell population maintenance]
Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription] GO:0030015[CCR4-NOT core complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006355[regulation of DNA-templated transcription] GO:0030015[CCR4-NOT core complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)