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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
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
1
Cytoband
p36.22
Chromosome location (bp)
11658918 - 11691811
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein able to interact with different proteins and involved in different biological processes 1,2,3,4,5,6. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis 7. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions 8. Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) 9. During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection 10. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres 11. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 12. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle 13,14. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation 15....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [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 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.
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001558[regulation of cell growth] GO:0002208[somatic diversification of immunoglobulins involved in immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005680[anaphase-promoting complex] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007015[actin filament organization] GO:0007049[cell cycle] GO:0007094[mitotic spindle assembly checkpoint signaling] GO:0008432[JUN kinase binding] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010944[negative regulation of transcription by competitive promoter binding] GO:0016035[zeta DNA polymerase complex] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0035861[site of double-strand break] GO:0042177[negative regulation of protein catabolic process] GO:0042276[error-prone translesion synthesis] GO:0042772[DNA damage response, signal transduction resulting in transcription] GO:0043247[telomere maintenance in response to DNA damage] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0051301[cell division] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1904667[negative regulation of ubiquitin protein ligase activity] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2000048[negative regulation of cell-cell adhesion mediated by cadherin] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001558[regulation of cell growth] GO:0002208[somatic diversification of immunoglobulins involved in immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005680[anaphase-promoting complex] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007015[actin filament organization] GO:0007049[cell cycle] GO:0007094[mitotic spindle assembly checkpoint signaling] GO:0008432[JUN kinase binding] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010944[negative regulation of transcription by competitive promoter binding] GO:0016035[zeta DNA polymerase complex] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0035861[site of double-strand break] GO:0042177[negative regulation of protein catabolic process] GO:0042276[error-prone translesion synthesis] GO:0042772[DNA damage response, signal transduction resulting in transcription] GO:0043247[telomere maintenance in response to DNA damage] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0051301[cell division] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1904667[negative regulation of ubiquitin protein ligase activity] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2000048[negative regulation of cell-cell adhesion mediated by cadherin] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
B1AK44 [Direct mapping] Mitotic spindle assembly checkpoint protein MAD2B
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THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
B1AK44 [Direct mapping] Mitotic spindle assembly checkpoint protein MAD2B
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases 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:0000785[chromatin] GO:0001558[regulation of cell growth] GO:0002208[somatic diversification of immunoglobulins involved in immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005680[anaphase-promoting complex] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007015[actin filament organization] GO:0007049[cell cycle] GO:0007094[mitotic spindle assembly checkpoint signaling] GO:0008432[JUN kinase binding] GO:0010628[positive regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010944[negative regulation of transcription by competitive promoter binding] GO:0016035[zeta DNA polymerase complex] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0035861[site of double-strand break] GO:0042177[negative regulation of protein catabolic process] GO:0042276[error-prone translesion synthesis] GO:0042772[DNA damage response, signal transduction resulting in transcription] GO:0043247[telomere maintenance in response to DNA damage] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0051301[cell division] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1901203[positive regulation of extracellular matrix assembly] GO:1904667[negative regulation of ubiquitin protein ligase activity] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2000048[negative regulation of cell-cell adhesion mediated by cadherin] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
B1AK43 [Direct mapping] Mitotic spindle assembly checkpoint protein MAD2B
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SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
