|
AKT1
|
v-akt murine thymoma viral oncogene
homolog 1 |
Serine/threonine kinase. Regulates
components of the apoptotic machinery. |
14q32.32 |
|
ATM
|
Ataxia telangiectasia mutated |
Serine threonine protein kinase.
Activates cell cycle checkpoints upon DSB induction acting as a DNA
damage sensor. |
11q22-q23 |
|
BAP1
|
BRCA1 associated protein-1
(ubiquitin carboxy-terminal hydrolase) |
Binds to BRCA1. Involved in cell
cycle, response to DNA damage and chromatin dynamics. |
3p21.1 |
|
BIRP1
|
BRCA1 protein interaction with
c-terminal helicase |
Receptor-interacting protein
forming a complex with BRCA1. Active during DSB repair. |
17q22.2 |
|
BRCA1
|
Breast cancer 1 |
DNA repair,ubiquitination and
transcriptional regulation to maintain genomic stability. Induces cell
cycle arrests after ionizing irradiation. |
17q21 |
|
BRCA2
|
Breast cancer 2 |
Involved in DSB repair and/or
homologous recombination in meiosis. |
13q12 |
|
CDKs
|
Cell Division Protein Kinase |
Cell cycle kinases. |
10q21.2 |
|
CDKN1B
|
Cyclin-dependent kinase inhibitor
1B |
Cell-cycle progression at G1. |
12p13.1-p12 |
|
CCND1
|
Cyclin D1 |
Regulates cell cycle during
G1/S, also interacts with a network of repair proteins including RAD51 to
regulate HR |
11q13 |
|
CCND3
|
Cyclin D3 |
Regulates G1/S transition in cell
cycle |
6p21.1 |
|
RBBP8
|
Retinoblastoma Binding Protein |
Endonuclease that functions with
MRX complex in the first step of the DSB repair. |
18q11.2 |
|
EP300
|
3 00 kDa E1A-Binding protein
gene |
Regulates transcription
via chromatin remodeling. Regulated by acetylation in
DNA damage response. |
22q13.2 |
|
EXO1
|
Exonuclease 1 |
5’-3’ Exonuclease |
1q43 |
|
FGFR2
|
Fibroblast growth factor receptor
2 |
Cell surface tyrosine kinase
receptor regulating cell proliferation, migration and apoptosis. |
10q25.3-q26 |
|
HIST1H2BC
|
Histone cluster 1, H2BC |
Core histone playing roles in DNA
repair, replication and chromosomal stability. |
6p22.1 |
|
H2AX
|
H2A Histone Family, Member X |
Required for checkpoint-mediated
arrest of cell cycle progression in response to low doses of ionizing
radiation and for efficient DSB repair when modified by C-terminal
phosphorylation. |
11q23.3 |
|
KU70
|
Thyroid Autoantigen 70 kDa |
Binding to DSB ends and inhibition
of exonuclease activity at these ends. |
22q13.2 |
|
LIG4
|
Ligase IV |
DNA ligase involved in DNA
non-homologous end joining (NHEJ) required for DSB repair. |
13q33.3 |
|
LSP1
|
Lymphocyte-specific protein 1 |
Actin binding protein F. |
11p15.5 |
|
MDC1
|
Mediator of DNA Damage Checkpoint
1 |
Mediator-adaptor protein in
response to DNA damage, active during the S and G2/M phases of cell
cycle. |
6p21.3 |
|
MLL3
|
Myeloid/lymphoid or mixed-lineage
leukaemia 3 |
Part of the ASCOM complex regulated
by acetylation to induce expression of p53 targets such as p21 in DNA
damage response. |
7q36.1 |
|
MRE11
|
Meiotic Recombination 11 |
Endonuclease, exonuclease, MRN/X
complex-5. |
11q21 |
|
NBN1
|
Nibrin |
Component of the MRN/X complex.
Plays a critical role in the cellular response to DNA damage and the
maintenance of chromosome integrity. Regulator of cell cycle checkpoints
in meiosis. |
8q21.3 |
|
PALB2
|
Partner and localizer of BRCA |
Critical role in HR repair by
recruiting BRCA2 and RAD51. |
16p12.1 |
|
PTEN
|
Phosphatase and tensin homolog |
Tumor suppressor protein. Active in
DNA repair through interactions with the Chk1 and the P53 pathways.
Regulator of the RAD51 activity. |
10q23.3 |
|
RAD50
|
RAD50 homolog Sacharomyces
cerevisiae
|
Protein involved in DSB
repair, required for NHEJ and HR. |
5q23-q31 |
|
RAP80
|
Ubiquitin Interaction Motif
Containing 1 |
Recognize ubiquitinated H2A and
H2AX histones and recruits the BRCA1/BARD1 heterodimer at DSB. |
5q35.2 |
|
RB1
|
Retinoblastoma |
Tumor suppressor protein, mediates
cell cycle arrest. |
17q22.2 |
|
Rif1
|
RAP1 interacting factor homolog
(yeast) |
Required for cell cycle arrest at
S-phase in response to DNA damage. |
2q23.3 |
|
RNF168
|
RING Finger Protein |
E3 ubiquitin-protein ligase
required for recruiting repair proteins to DNA damage sites. |
3q29 |
|
TGFβ1
|
Transforming growth factor β1 |
Multifunctional peptides that
regulate cell proliferation, migration, adhesion, differentiation, and
other functions. |
19q13.1 |
|
TopBP1
|
Topoisomerase (DNA) II Binding
Protein |
S-phase checkpoint regulator. |
3q22.1 |
|
TOX3
|
Tox high mobility group box family
member 3 |
Involved in alteration of chromatin
structure. |
16q12.1 |
|
TP53
|
Tumor protein p53 |
Tumor suppressor protein, cell
cycle arrest, apoptosis, senescence and DNA repair. |
17p13 |
|
XLF/Cernunnos
|
Non homologous End-Joining
Factor |
Scaffold protein. Serve as a bridge
between XRCC4 and the other NHEJ factors. |
2q35 |
|
XRCC4
|
X-Ray Repair Complementing
Defective |
Scaffold protein involved in
NHEJ. |
5q14.2 |
|
53BP1
|
Tumor Protein P53 Binding
Protein |
Adaptor protein, chromatin reader.
Promotes NHEJ. |
15q15.3 |
