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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.
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
7
Cytoband
q33
Chromosome location (bp)
135092363 - 135170795
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cell-cycle-specific regulator of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair, which can act both as an activator or inhibitor of NHEJ, depending on the cell cycle phase 1,2. Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present 3. Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination 4. Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70 5. In contrast, acts as an activator of NHEJ during G1 phase of the cell cycle: promotes classical NHEJ in G1 phase cells via multivalent interactions that increase the affinity of DNA damage response proteins for DSB-associated chromatin. Also involved in immunoglobulin V(D)J recombination (By similarity). May also act as an indirect regulator of proteasome (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Gene summary (Entrez)i
Useful information about the gene from Entrez
Involved in double-strand break repair via nonhomologous end joining and negative regulation of double-strand break repair via nonhomologous end joining. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]...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.
Q9BWK5 [Direct mapping] Cell cycle regulator of non-homologous end joining
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0033152[immunoglobulin V(D)J recombination] GO:0035861[site of double-strand break] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
Q9BWK5 [Direct mapping] Cell cycle regulator of non-homologous end joining
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0033152[immunoglobulin V(D)J recombination] GO:0035861[site of double-strand break] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
Q9BWK5 [Direct mapping] Cell cycle regulator of non-homologous end joining
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0033152[immunoglobulin V(D)J recombination] GO:0035861[site of double-strand break] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
Q9BWK5 [Direct mapping] Cell cycle regulator of non-homologous end joining
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0033152[immunoglobulin V(D)J recombination] GO:0035861[site of double-strand break] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
Q9BWK5 [Direct mapping] Cell cycle regulator of non-homologous end joining
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0033152[immunoglobulin V(D)J recombination] GO:0035861[site of double-strand break] GO:2001033[negative regulation of double-strand break repair via nonhomologous end joining]
The Human Protein Atlas project is funded
