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RAD51 | DNA repair protein RAD51 homolog 1; Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Part of a PALB2-scaffolded HR [...] (339 aa) | ||||
TP53 | Cellular tumor antigen p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. Its pro-apoptotic activity is activated via its intera [...] (386 aa) | ||||
BRCA2 | BRCA2 DNA repair associated. (3427 aa) | ||||
SNRNP200 | Small nuclear ribonucleoprotein U5 subunit 200. (2136 aa) | ||||
DDX10 | RNA helicase. (876 aa) | ||||
POLD2 | DNA polymerase delta subunit 2; Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Pol-delta3 and Pol- delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4. Although both Pol- delta3 and [...] (613 aa) | ||||
CDC7 | Cell division cycle 7 homolog (S. cerevisiae). (576 aa) | ||||
MYO3B | Myosin IIIB; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1231 aa) | ||||
SMARCB1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Core component of the BAF (SWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structu [...] (436 aa) | ||||
RAD18 | RAD18 E3 ubiquitin protein ligase. (501 aa) | ||||
MCPH1 | Microcephalin 1. (860 aa) | ||||
PMS2 | Uncharacterized protein. (922 aa) | ||||
GAPDH | Glyceraldehyde-3-phosphate dehydrogenase; Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubu [...] (376 aa) | ||||
MSH3 | DNA mismatch repair protein; Component of the post-replicative DNA mismatch repair system (MMR). (1082 aa) | ||||
MCM2 | DNA helicase; Belongs to the MCM family. (929 aa) | ||||
BRIP1 | BRCA1 interacting protein C-terminal helicase 1. (1172 aa) | ||||
F1MSX0_BOVIN | RNA helicase. (689 aa) | ||||
BARD1 | BRCA1 associated RING domain 1. (773 aa) | ||||
CDCA5 | Cell division cycle associated 5. (479 aa) | ||||
DDX18 | RNA helicase. (670 aa) | ||||
DDX31 | RNA helicase. (736 aa) | ||||
ATM | Serine-protein kinase ATM; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and mo [...] (3054 aa) | ||||
TP53BP1 | Tumor protein p53 binding protein 1. (1966 aa) | ||||
SHLD2 | Shieldin complex subunit 2. (906 aa) | ||||
PDS5A | PDS5 cohesin associated factor A. (1337 aa) | ||||
RAD51C | RAD51 paralog C. (442 aa) | ||||
BRDT | BRD4_CDT domain-containing protein. (248 aa) | ||||
HUS1 | Checkpoint protein; Belongs to the HUS1 family. (280 aa) | ||||
SMAD3 | Mothers against decapentaplegic homolog. (425 aa) | ||||
RAD9A | Cell cycle checkpoint control protein; Belongs to the rad9 family. (395 aa) | ||||
XAB2 | XPA binding protein 2. (855 aa) | ||||
SF3B3 | Splicing factor 3B subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12- dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mR [...] (1217 aa) | ||||
STAG2 | Stromal antigen 2. (1268 aa) | ||||
BRCA1 | Breast cancer type 1 susceptibility protein homolog; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain [...] (1849 aa) | ||||
POLA1 | DNA polymerase. (1468 aa) | ||||
SNW1 | SNW domain-containing protein 1; Involved in pre-mRNA splicing as component of the spliceosome. Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, [...] (536 aa) | ||||
PSMA1 | Proteasome subunit alpha type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] (263 aa) | ||||
ESCO2 | Establishment of sister chromatid cohesion N-acetyltransferase 2. (610 aa) | ||||
PALB2 | Partner and localizer of BRCA2. (1195 aa) | ||||
CDC45 | Cell division cycle 45. (616 aa) | ||||
PMEL | Melanocyte protein PMEL; Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures (By similarity). (649 aa) | ||||
SF3A1 | Splicing factor 3A subunit 1; Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex. Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes. (793 aa) | ||||
MSH6 | DNA mismatch repair protein; Component of the post-replicative DNA mismatch repair system (MMR). (1262 aa) | ||||
RBBP8 | DNA endonuclease RBBP8; Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phas [...] (889 aa) | ||||
RAD51D | DNA repair protein RAD51 homolog 4; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication fo [...] (418 aa) | ||||
MSH2 | DNA mismatch repair protein Msh2; Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a t [...] (934 aa) |