Tag | Content |
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UniProt Accession | APEX1_HUMAN; P27695; |
Entrez ID | 328 |
GenBank Protein ID | NM_001244249.1; NM_001641.3; NM_080648.2; NM_080649.2; |
GenBank Nucleotide ID | NP_001231178.1; NP_001632.2; NP_542379.1; NP_542380.1; |
Protein Name | DNA-(apurinic or apyrimidinic site) lyase (EC 3.1.-.-) (EC 4.2.99.18) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (REF-1) (Redox factor-1) [Cleaved into: DNA-(apurinic or apyrimidinic site) lyase, mitochondria |
Gene Name | APEX1; APE; APE1; APEX; APX; HAP1; REF1 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 in DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribos(view all) |
Sequence (Fasta) | MPKRGKKGAV AEDGDELRTE PEAKKSKTAA KKNDKEAAGE GPALYEDPPD QKTSPSGKPA 60 TLKICSWNVD GLRAWIKKKG LDWVKEEAPD ILCLQETKCS ENKLPAELQE LPGLSHQYWS 120 APSDKEGYSG VGLLSRQCPL KVSYGIGDEE HDQEGRVIVA EFDSFVLVTA YVPNAGRGLV 180 RLEYRQRWDE AFRKFLKGLA SRKPLVLCGD LNVAHEEIDL RNPKGNKKNA GFTPQERQGF 240 GELLQAVPLA DSFRHLYPNT PYAYTFWTYM MNARSKNVGW RLDYFLLSHS LLPALCDSKI 300 RSKALGSDHC PITLYLAL 319 |
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Database | Annotation |
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CTD (Curated) (count: 10) (view all) | MESH:D001930
; Brain Injuries MESH:D006528 ; Carcinoma, Hepatocellular MESH:D018450 ; Disease Progression MESH:D020022 ; Genetic Predisposition to Disease MESH:D006331 ; Heart Diseases MESH:D008545 ; Melanoma |
DisGeNet (Curated) (count: 7) (view all) | C0018799; Heart Diseases
C0025202; melanoma C0033578; Prostatic Neoplasms C0036572; Seizures C0038356; Stomach Neoplasms C1449861; Micronuclei, Chromosome-Defective |
HGMD (count: 7) (view all) | CM071559; Colorectal adenoma, association with ?; Missense/nonsense
CM984700; Amyotrophic lateral sclerosis; Missense/nonsense CM984701; Amyotrophic lateral sclerosis; Missense/nonsense CM063843; Amyotrophic lateral sclerosis, association with; Missense/nonsense CM984702; Amyotrophic lateral sclerosis; Missense/nonsense CM984703; Amyotrophic lateral sclerosis; Missense/nonsense |
PTM | Modification Sites |
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Phosphorylation (count: 14) (view all) | 123 HQYWSAPSDKEGYSG dbPAF
128 APSDKEGYSGVGLLS dbPAF 171 SFVLVTAYVPNAGRG dbPAF 184 RGLVRLEYRQRWDEA dbPAF 233 NKKNAGFTPQERQGF dbPAF 252 QAVPLADSFRHLYPN dbPAF |
Acetylation (count: 18) (view all) | 103 ETKCSENKLPAELQE PLMD
125 YWSAPSDKEGYSGVG PLMD 141 LSRQCPLKVSYGIGD PLMD 197 EAFRKFLKGLASRKP PLMD 203 LKGLASRKPLVLCGD PLMD 227 LRNPKGNKKNAGFTP PLMD |
Ubiquitination (count: 12) (view all) | 103 ETKCSENKLPAELQE PLMD
125 YWSAPSDKEGYSGVG PLMD 141 LSRQCPLKVSYGIGD PLMD 197 EAFRKFLKGLASRKP PLMD 227 LRNPKGNKKNAGFTP PLMD 228 RNPKGNKKNAGFTPQ PLMD |
Sumoylation (count: 2) | 52 YEDPPDQKTSPSGKP PLMD
85 KKGLDWVKEEAPDIL PLMD |
Malonylation (count: 2) | 197 EAFRKFLKGLASRKP PLMD
276 YMMNARSKNVGWRLD PLMD |
Methylation (count: 2) | 58 QKTSPSGKPATLKIC PLMD
63 SGKPATLKICSWNVD PLMD |
Succinylation (count: 3) | 197 EAFRKFLKGLASRKP PLMD
24 LRTEPEAKKSKTAAK PLMD 276 YMMNARSKNVGWRLD PLMD |