NAME: Base Excision Repair

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
472 ATM 472 HGNC:795 Hs.367437 1553387_at
1554631_at
1570352_at
208442_s_at
210858_x_at
212672_at
ataxia telangiectasia mutated Ataxia telangiectasia mutated ENSG00000149311 ENSP00000278616 hsa+472 ATM ATA, ATDC, ATC, ATD ATM 11q22-q23 Approved TEL1, TELO1 ATM ataxia telangiectasia mutated; 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 involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylate [...]
545 ATR 545 HGNC:882 Hs.271791 209902_at
209903_s_at
233288_at
ataxia telangiectasia and Rad3 related Ataxia telangiectasia and Rad3 related ENSG00000175054 ENSP00000343741 hsa+545 ATR ATR 3q22-q24 Approved FRP1, SCKL, SCKL1, MEC1 ENSG00000175054 ataxia telangiectasia and Rad3 related; Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and TP53/p53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damag [...]
672 BRCA1 672 HGNC:1100 Hs.194143 204531_s_at
211851_x_at
breast cancer 1, early onset Breast cancer 1, early onset GO:0000724 GO:0008630 ENSG00000012048 ENSP00000350283 BRCA1 BRCA1 IDA 17q21-q24 Approved REACT_216 RNF53, BRCC1 RNF53 breast cancer 1, early onset; The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage [...]
675 BRCA2 675 HGNC:1101 Hs.34012 208368_s_at
214727_at
breast cancer 2, early onset Breast cancer 2, early onset GO:0006289 ENSG00000139618 ENSP00000369497 hsa+675 BRCA2 FANCD1, FACD, FANCD BRCA2 IMP 13q12-q13 Approved FAD, FAD1, BRCC2 BRCA2 breast cancer 2, early onset; Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation
80233 C17orf70 80233 HGNC:26171 221800_s_at
225322_s_at
228136_s_at
chromosome 17 open reading frame 70 ENSP00000333283 C17orf70 17q25.3 Approved FLJ22175, FAAP100 Fanconi anemia-associated protein of 100 kDa ; Play a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitylation and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed
91442 C19orf40 91442 HGNC:28467 214816_x_at
chromosome 19 open reading frame 40 ENSP00000254262 C19orf40 19q13.11 Approved FLJ46828, MGC32020, FAAP24 Fanconi anemia-associated protein of 24 kDa ; Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitylation upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA
2175 FANCA 2175 HGNC:3582 Hs.567267 203805_s_at
203806_s_at
215530_at
236976_at
Fanconi anemia, complementation group A Fanconi anemia, complementation group A ENSG00000187741 ENSP00000373952 FANCA FACA, FANCH FANCA 16q24.3 Approved FAA, FA-H, FAH FAA Fanconi anemia, complementation group A; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability
2187 FANCB 2187 HGNC:3583 1553244_at
1557217_a_at
1557218_s_at
243597_at
Fanconi anemia, complementation group B ENSG00000181544 ENSP00000326819 FANCB Xp22.2 Approved FAB, FLJ34064, FAAP95 Fanconi anemia, complementation group B; DNA repair protein required for FANCD2 ubiquitination
2176 FANCC 2176 HGNC:3584 Hs.494529 1559513_a_at
205189_s_at
242654_at
Fanconi anemia, complementation group C Fanconi anemia, complementation group C ENSG00000158169 ENSP00000289081 FANCC FACC FANCC 9q22.3 Approved FAC, FA3 FANCC Fanconi anemia, complementation group C; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability
2177 FANCD2 2177 HGNC:3585 Hs.208388 1568889_at
1568891_x_at
223545_at
242560_at
Fanconi anemia, complementation group D2 Fanconi anemia, complementation group D2 ENSG00000144554 ENSP00000287647 FANCD2 FACD, FANCD FANCD2 3p25.3 Approved FAD, FA-D2 FACD Fanconi anemia, complementation group D2; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching
2178 FANCE 2178 HGNC:3586 220255_at
Fanconi anemia, complementation group E ENSG00000112039 ENSP00000229769 FANCE FACE 6p22-p21 Approved FAE Fanconi anemia, complementation group E; Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2
2188 FANCF 2188 HGNC:3587 218689_at
222713_s_at
Fanconi anemia, complementation group F ENSP00000330875 FANCF 11p15 Approved FAF Fanconi anemia, complementation group F; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity)
2189 FANCG 2189 HGNC:3588 203564_at
Fanconi anemia, complementation group G ENSG00000221829 ENSP00000367910 FANCG XRCC9 9p13 Approved FAG Fanconi anemia, complementation group G; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene
55215 FANCI 55215 HGNC:25568 213007_at
213008_at
223785_at
Fanconi anemia, complementation group I ENSG00000140525 ENSP00000310842 FANCI KIAA1794 15q26.1 Approved FLJ10719 Fanconi anemia, complementation group I; Required for maintenance of chromosomal stability. Involved in the repair of DNA double-strand breaks by homologous recombination and in the repair of DNA cross-links. Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2 ubiquitination and recruitment to DNA repair sites
55120 FANCL 55120 HGNC:20748 218397_at
Fanconi anemia, complementation group L ENSG00000115392 ENSP00000385021 FANCL PHF9 2p16.1 Approved FLJ10335, FAAP43, Pog Fanconi anemia, complementation group L; Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth
57697 FANCM 57697 HGNC:23168 1554277_s_at
231971_at
234733_s_at
242711_x_at
Fanconi anemia, complementation group M ENSP00000267430 FANCM KIAA1596 14q21.3 Approved FAAP250 Fanconi anemia, complementation group M; ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA
79728 PALB2 79728 HGNC:26144 219530_at
partner and localizer of BRCA2 ENSP00000261584 PALB2 16p12.1 Approved FLJ21816, FANCN partner and localizer of BRCA2; Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteosome-mediated degradation
6233 RPS27A 6233 HGNC:10417 Hs.311640 Hs.546292 200017_at
242214_at
244624_at
ribosomal protein S27a Ribosomal protein S27a ENSG00000143947 ENSP00000272317 RPS27A RPS27A 2p16 Approved UBCEP80, Uba80 UBB ribosomal protein S27a
7311 UBA52 7311 HGNC:12458 221700_s_at
ubiquitin A-52 residue ribosomal protein fusion product 1 ENSG00000221983 ENSP00000388107 UBA52 19p13.1-p12 Approved RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40 ubiquitin A-52 residue ribosomal protein fusion product 1; Protein modifier which can be covalently attached to target lysines either as a monomer or as a lysine-linked polymer. Attachment to proteins as a Lys-48-linked polymer usually leads to their degradation by proteasome. Attachment to proteins as a monomer or as an alternatively linked polymer does not lead to proteasomal degradation and may be required for numerous functions, including maintenance of chromatin structure, regulation of gene expression, stress response, ribosome biogenesis and DNA repair
7314 UBB 7314 HGNC:12463 Hs.356190 Hs.714712 200633_at
217144_at
ubiquitin B Similar to Os05g0242100 ENSG00000170315 ENSP00000304697 UBB UBB 17p12-p11.2 Approved MGC8385, FLJ25987 ENSG00000170315 ubiquitin B
7316 UBC 7316 HGNC:12468 Hs.520348 208980_s_at
211296_x_at
ubiquitin C Ubiquitin C ENSG00000150991 ENSP00000344818 UBC UBC 12q24.3 Approved UBC ubiquitin C
29089 UBE2T 29089 HGNC:25009 223229_at
ubiquitin-conjugating enzyme E2T (putative) ENSG00000077152 ENSP00000356243 UBE2T 1q32.1 Approved HSPC150 ubiquitin-conjugating enzyme E2T (putative); Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity)
7398 USP1 7398 HGNC:12607 202412_s_at
202413_s_at
ubiquitin specific peptidase 1 ENSG00000162607 ENSP00000343526 USP1 1p31.3 Approved ubiquitin specific peptidase 1; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity
27033 ZBTB32 27033 HGNC:16763 220118_at
zinc finger and BTB domain containing 32 ENSG00000011590 ENSP00000262630 ZBTB32 19q13.1 Approved TZFP, FAZF, FAXF, Rog, ZNF538 zinc finger and BTB domain containing 32; DNA-binding protein that binds to the to a 5'- TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T cells (By similarity)
24 genes found.

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ID ApprovedSymbol EntrezGene HGNC
UniGeneID HugoName UniGeneName GeneOntologyID
ENSG ENSP KEGGID ApprovedSymbol2
PreviousSymbols NCIName Evidence Chromosome
Status Reactome_ID Aliases StringSymbol
StringName Affymetrics


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