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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PNKP (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 11284 Official gene symbol PNKP Full name polynucleotide kinase 3'-phosphatase Aliases ,PNK, Gene summary This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay. Location Chromosome: 19   Locus: 19q13.3-q13.4 Gene position 50370818 - 50364461  Map Viewer Gene orientation minus Gene size 6358 bp Gene sequence >PNKP:complement(22632679..22639036):Length=6358 GGAACCGACCGCCGCCGGCCGGGTTGCAGGCGGGGCACCTCGGGCAGGACCTCCCTGGTC GGAAGTGGCCGTGAGCCCAAGCCGCGGTCCCGGGTGAGTACGGGGCGGGGCGGAGGCATG TGCGAGGCTCTCTGCCTGTACGCTGGAAAGTGGGGATTGCAACTCGGGGAGGGATGGAGC ACGCGTCGTCGCCTGGGAAACGGGTCGACCCGCGGAAGGCGAGCGGGTGGGACTTCCGGA GCAGTTAATGGTGGGGAAACTTTCTAGTGGATGTGGGAGGAGGCGGGACTTCCTGCAGCA AATTGGGGCTGTGCGCCGCTCAAGCCCGTTTACCTGCTCCCCAGGCCGGCACCCAGGATG GGCGAGGTGGAGGCCCCGGGCCGCTTGTGGCTCGAGAGCCCCCCTGGGGGAGCGCCCCCC ATCTTCCTGCCCTCGGACGGGCAAGCCCTGGTCCTGGGCAGGGGACCCCTGACCCAGGTT ACGGACCGGAAGTGCTCCAGAACTCAAGGTGAGCGGGGCCTGAGCTGGAGGGGGTGTGGC CTGCTGCAAAAGCGGGAACAATCCAGAGGGACGCTTGGCTGCTACGCGGGATTGCAGTGG TGCAGCCAGCCCCGAAGTCGGAAGGTGCTCTCTAGGGAGTACAGGAAGATAAAGTTTGTG CTTGATTTAGAATTAGCTAGATCCTTTGGGGGAGAGGGGATCGAGCCGATTTAGGGAGGA TGTTCACTGCGCGGATGATGCTCAGGCCATCGGGAAATCCAGAAACAGGCGACGACCTTC GTCAAGAGAAAAATGATCCTGTGGAGAAAAGTAAATGTCGCTAGGTTGGGATGGATGGTA ACAGGCCAAGCCCCGGACCTATATCTAGCCACATTTTTTGTCAAGGAGGAAACCAATTCT GTAGAGAAAAGTACCTCCCTGTCCCTTGCAAGGACCAGTGTCAGGCAATCCTAGTGCCAC TATCTGGCTACTGCATGTCAAGGAGCCAATCCCATGTAGAAATAAACTGCCTCTTACTCC CTGGATGCTATAGCCTGAAGCAGGCCACACTCCCCAGAAATGAGGGACCCAATCACACAA GGATGCAAATCCTGACTCCACCCCTCCAATCCTCAGTGGAGCTGGTCGCAGATCCTGAGA CCCGGACAGTGGCAGTGAAACAGGTATCAGTGCCTCTGCAAGGGCCAGCAAGGCCTGGGG ATGGGATTTGGGGAGGAATTGCAAGCCGTCAGTGAAGGGGTACATTAGGAAAATCTGATT GGGGCCGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCGCTTGAACCCAGGAGTTCGAGACCAGCCTGAGCGACATGGTGAAACCTGTCTCTCT AAAAAATTAGCGGGAATGGTGGCGCGTCCTTGTAGTTCCTAATCGGGAGGCTGAAGCGGG AGGATCCCTTGAGCCCAGTAGGTCAAGGGTGTAGTGAGCAGTGATCACCACACTGTACTT CAGCCTGGGTGACAGAGCGAGAACCTGTCTCAAAAAAAGAAAAGAAAAAATATGGCTGGG AGAGAAGGGGATGTGTCCAGTAAAGAAAGAAGTGTTGCCTGTTTCAGTGGGGTGGGTACC TGTCCAAGACCTTAGAAATTGGACAAGGCGGCCAGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCTAGGCGGGCGGATCACCCGAGATCAGGAGTTTGTGACCAGCCTG GCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGCATGGTGGCG GGTGCCTGTAATCCCAGCTACTCGGGTAGCTGAGGCAGGAGAATCGTTTGAACCCAGGAG GCACAGGTTTCAATGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAAAACAAG CCTATATCTCCAGGGGAAAAAAAAAAAAAAAAAAAAAAAAGATTCGGACAAGGCTGAAAA CCTGTAACCGTTCCAAAGCCCGTTCCAAAGTGAAGAGGTGGGGCCTAAGGGTCTGATAGT GGTGGAGAAGGGCTGATTTTTCCGCTGGGTATTTGATTGGAGGAAGCTCCCGGTGGGGGC GGAGCCAGTCCCAGCTCCTCCCTCTCTTTCTGCAGCTGGGAGTTAACCCCTCAACTACCG GGACCCAGGAGTTGAAGCCGGGGTTGGAGGGCTCTCTGGGGGTGGGGGACACACTGTATT TGGTCAATGGCCTCCACCCACTGACCCTGCGCTGGGAAGAGACCCGCACACCAGAATCCC AGCCAGATACTCCGCCTGGCACCCCTCTGGTGTCCCAAGATGAGAAGAGAGATGCTGAGC TGCCGAAGAAGCGTATGCGGAAGTCAAACCCCGGCTGGGAGAACTTGGAGAAGTTGCTAG TGTTCACCGCAGCTGGGGTGAAACCCCAGGGCAAGGTGAGGGCCACGCCGAGGGCTGAGG GAGCCGCCACAGACTGGGACCCAATCCCACGTTTGTTGCGTGCTCTCAACTTTTTAGCCT CTACTTACTTTTCTGAGAAATGGGCCTAATGATAAATGCAGGGATCGTTGTAAGCAGTTA AGCAGTGGGGAGAATGATATATGTCAGCTCCTGCGTTACCCACAGTGACCACCCAGTAAT CAGCAATGACCATGACTGTCTCAGTAGGAGCTATTACGATGAGGATTTTTTATGTCCAGA GAGACTTGAGTTCAAATGCTGTTACCACCACATTCTGAGTCCCATGTGTCTCATCTCTAC GATGCTGAATCCATAAAAAAAGCACGTGGCATAGTTCCTGACATGCAGTTAGCACCCAAA GCTTTGCTCCTGCTTTTATTTTCACGGTTATTAGCCCACCGAGGTGGTGAAGGCCAGGGG AAGAAGGAGGCTGGGTAAGACATTAACCCCCATTTTAAAGACTGTAATCCTGGGGCTGGC GTCATAAGGAGTAACAGGAGACAGTAAGGTTAAGATGTCGGGCCCCACTCAGAGGCATCA CGGATGCTTGAGATGGAGGTGCTCTGTGACTCGGTTTCCCCATCTGTGAGATGGCAGTGA TAACACCCTGCCTGGCAGGGTTGGTGTGAGTCAGCCTGTGAGTGAGGAGGGTCAGAGGTA TCACAGTGCTGCTGTTTGTCTTTCCTTGGTGACACCAGGTGGCTGGCTTTGATCTGGACG GGACGCTCATCACCACACGCTCTGGGAAGGTCTTTCCCACTGGCCCCAGTGACTGGAGGT GATAAGAGGCAAAACAAGGGAGTGAGTGAGGCCTGGAGTCCACCTCTGGCCCCGGGTCAC CCCTGCCGCTTCATACCTGCCGTAGGATCTTGTACCCAGAGATTCCCCGTAAGCTCCGAG AGCTGGAAGCCGAGGGCTACAAGGTATGTGCAGCCGCCTGTCTGCATGGGCACGTGCACG TGGCGGTCCGACCGCAGTCAGACCAAGGCCCTGGTGAGCAGAGCGTCTGGTGACACCCTT TGCTCCCCAGCTGGTGATCTTCACCAACCAGATGAGCATCGGGCGCGGGAAGCTGCCAGC CGAGGAGTTCAAGGCCAAGGTGGAGGCTGTGGTGGAGAAGCTGGGGGTCCCCTTCCAGGT ATGGCTGGAAGGGAGGCTGGGAGCTATGTGGGGGCACAGAGATCCAGAGCGAGGGCTTTA GACTCCAGGGTAAGCGGGGCGGAGGCCTCAGGCAGTGTGATGCTGATAGGAACCCATCAT CAGCTACAAATTCTGGGCTGGGGTGGCATCCAGTAGGTGCTTGAGGGGGAGCTAAAGCTG GTGGCCCCCTCCCATCCACAGGTGCTGGTGGCCACGCACGCAGGCTTGTACCGGAAGCCG GTGACGGGCATGTGGGACCATCTGCAGGAGCAGGTGAGTCTTGCAGCCTGCCCGGCCCCC CTCCTTTTCCTCACTCCAGCCCCTCACTCCTGGGCTCCCCGGCCTCCGGTTGGGGCCTCC TTACTCCTCTGTCCTCTCTCGCTCCCTCCTTCTGTTTTTTGCTGTGACATCTTAGATGTT GGTTTACGAGACCAGTGCTTTCAGACTTTCTACATCAGAGTAGTAGGGAAGCTGTTCATT CCTTCGTTCATTCGTTTGTGTGTGCATTTGTTCTGAAGTTTAGCGCATTCTTGAGCTGAA GGTATCAGTGAGCGGGACGGCCTGCTCCAGCAGGGCCCTCACGGCGAGGGCGGTGACTCT AGGCGGATGGGCAGACTGGCGTGTAAAACAGCAGGAGGGAGGGAGCTGGAGAAAGCAGGC ATCACCCGTGGTGGGCAGGGATGGCCTCTGAGGAGGTGACATCAGAGGAAAAGGCCTAAG GCAGGGAAAGGAGGGAGCCAGGTGGACACCTGGGGAAAGCGGTCCCCCCCCTTGTGGGAG TGACAGCAAGTGCAAAGGCCCTGAGGCAGTCCCTAGCCTGGGCTAGTTAGGGACAGCGAG GCCCATGCGGCTGGCTCTAAGCGAGGGAGGGGAGAGGGCAGGGCCACAGGGAGGGCCCCG CTTTTGCCCTGAGGGAGGGGGAACCTGGGAGGCGCCGGCACGCCGGAGGCTGGAGCTGTA GCAGGGTGGGTGCCCTCCGGTGGCCGCGTGGGGAACGGGAGGAGGTGAAGTCGGGAGACC TGGAGGGAGGGGGCTGTGTGGAGAGACCACGGAGGGGGGAGGGGGCCAGGAGCACGGTGC AAAGTGGCTGGAGAGTGAGGACATGAAAGGTCGGGGGATGATTCCTGATGTGGGGCACAG ACCAGGCGAAGCAGCCCCAGGGACCCGCTACCGCTGCGGGGGGACATTTGTGGGAAGGGC CTCCTCACTACCGTCTCCCGTAGGCCAACGACGGCACGCCCATATCCATCGGGGACAGCA TCTTTGTGGGAGGTAAGGGCCTGGAGGCTGCTGAGGGTGGGCTGGGACGCCTCCCTCCGA GCTGGTGGGAACGGGGTGTCCCGTGTGTTCCAGACGCAGCCGGACGCCCGGCCAACTGGG CCCCGGGGCGGAAGAAGAAAGACTTCTCCTGCGCCGATCGCCTGGTGAGGCCCCTGCCCC CTGCCCCGCGCCCGAGCCCGACCCTGGCCTGTGTCTGATGTTCGTCCTCAACCCCTAGTT TGCCCTCAACCTTGGCCTGCCCTTCGCCACGCCTGAGGAGTTCTTTCTCAAGTGGCCAGC AGCCGGCTTCGAGCTCCCAGCCTTTGATCCGGTGAGGCCCTGGGGCGGGGGTGGGGGTGG GGATGGGAGGGCTCCCGGGGATGGGGACGGCATCTCACGCGTGTCCCCCGCCCCTCGCAG AGGACTGTCTCCCGCTCAGGGCCTCTCTGCCTCCCCGAGTCCAGGGCCCTCCTGAGCGCC AGCCCGGAGGTGGTTGTCGCAGTGGGATTCCCTGGGGGTAAGTGTCCTGTTCCTGTGCGC GTGCCCTGAGCCCCGCCTGGGTCCTAGGCCACCCACCGACACTGCCCCCCACACAGCCGG GAAGTCCACCTTTCTCAAGAAGCACCTCGTGTCGGCCGGATATGTCCACGTGAACAGGGT ATGACCAGGCTTTTGCCGCCCCAAATCTATTATAAAGTTCCCATCTCCACCTCTCAACTG GTTTGGGGCGGCTTTCCTCCATCATTGCCTCCCCGTCCCCGCTCGGGGTCTTCTCTCCCC CTGGGTCTGCCGATCTGTTTGTGACCTCTCGTGTCCCCAGGACACGCTAGGCTCCTGGCA GCGCTGTGTGACCACGTGTGAGACAGCCCTGAAGCAAGGGAAACGGGTCGCCATCGACAA CACAAACCCAGACGCCGCGAGCCGCGCCAGGTAGCGTGACCGCGGGGCCGTAGGTGGCCT GCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTTCCCCCACAGGTACGTCCAGTGTG CCCGAGCCGCGGGCGTCCCCTGCCGCTGCTTCCTCTTCACCGCCACTCTGGAGCAGGCGC GCCACAACAACCGGGTGAGCCCGCTCAGCCCGGACACCCCCCGGGCTGCACCCCCTGACC CCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTCTGATGTTCCCCACAGTTTCGAGAG ATGACGGACTCCTCTCATATCCCCGTGTCAGACATGGTCATGTATGGCTACAGGTACTGT TGGGGATAGCAGGGGGCAGGGGCACTGGCTGGGCCACATGATCCAGGCTGTCCCTCACTG TTCCCACCACTGCCAGGAAGCAGTTCGAGGCCCCAACGCTGGCTGAAGGCTTCTCTGCCA TCCTGGAGATCCCGTTCCGGCTATGGGTGGAGCCGAGGCTGGGGCGGCTGTACTGCCAGT TCTCCGAGGGCTGAGCCCCGCCCAGCTCCCCTCCACAATAAACGCTGTTTCTCCTTGA OMIM ID 605610