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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PABPN1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 8106 Official gene symbol PABPN1 Full name poly(A) binding protein, nuclear 1 Aliases ,OPMD,PAB2,PABP2, Gene summary This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCG) repeat from normal 6 to 8-13 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed. [provided by RefSeq] Location Chromosome: 14   Locus: 14q11.2-q13 Gene position 23789397 - 23795372  Map Viewer Gene orientation plus Gene size 5976 bp Gene sequence >PABPN1:4789397..4795372:Length=5976 AATGAAGGGTGGCACCCAAATCCCCAATCAATGCCTGTTCAATCAACAAACATCTAACAG GACATTATGTGGTAGGCATATTGCCAGGCCGTGGAGATGCGAATATAAATAGGAACCGGC CCCTCATCTGCAGGCGCTCACAACCTAGTTAGGAAACAGTAAAACAATTAAGCGCGCCGT GGAGATAGGCCCACTTGTCCTGGGAAATGAGGGGAAGCTGGGGTTTGCAGTGGTTTGATT GAAGGGGGACTACATGTTAGAGGCACAGACTGGGTGCAGGTACACCCAAAGGAACGAGAA GAGTGGAAGGAAACAACATCCACAAAGTAACCACATGCTGGCGTATCGAAGGCCGTGATT TACGGTTTTGAGACTTTACCTCGCCAGCAAAGGGGGGCCAGTCTGTTAGCGGTGCAGATT GGAGGGGTGACATTGGAAGCTGTCCAGGAAAAAGAAAATGGAACTGGGGAGCAGAAGGCC TACGCAAGAGGGCGGGACAGACAGGACTTGTGACTAGTAGCTCTGGACTGAGGAATCCTC CCTGCTTTCTGGTGCGGGAGAGCTAGTGGATGATGGTGCCAATAACCTGGATGGGGAAAG TAAGCTCCCTCCTGGAATGCTTCATTCACAACCTCCATTTTCAGCAACATCCCATCTACT GGTGCTTCCTGGTCGAGATACAAGTTTCCTGAAACTGCTGCTCTGTTTTGGGCCTCACCC GGCCAACAGCTCACTAGCTGGCAAGCAGTAGTATCAAGATGGCGGCCCCCTAGGACTGGC TAGTCATGTGACCTCGGGTTTCCCAAGTTTGAAGCCCGGCAGTCCTTTCGGGGGCAAGGT TCACCTGTCACGAAACGAGTGTCACCCCTTCGACTCTCGCAAGCCAATCGGCATCTGAGA CTGGGCCACTGCGGTGAGGCGATCGGAAGATTGGTCCTTTCCAGTCGCCTAGCTAGGGCC AATCACGGAGCGTCCCATACTTCGCGGGCCCGCCCGTAGGCCGGGGAGAAGCAGGAATAT CGTCACAGCGTGGCGGTATTATTACCTAAGGACTCGATAGGAGGTGGGACGCGTGTTGAT TGACAGGCAGATTTCCCCTACCGGGATTTGAGAATTTGGCGCAGTGCCCCGCCTTAGAGG TGGGGCCTTATTTGATTGCCAAGTAATATTCCCCAATGGAGTACTAGCTCATGGTGACGG GCAGGCAGCTTGACTAATGAGTCCTCGGCGTGGCCGGCGCAGCTCTCCAATCGCCGGGCG GCGGGCCCCAGTCTGAGCGGCGATGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGGGGC TGCGGGCGGTCGGGGCTCCGGGCCGGGGCGGCGGCGCCATCTTGTGCCCGGGGCCGGTGG GGAGGCCGGGGAGGGGGCCCCGGGGGGCGCAGGGGACTACGGGAACGGCCTGGAGTCTGA GGAACTGGAGCCTGAGGAGCTGCTGCTGGAGCCCGAGCCGGAGCCCGAGCCCGAAGAGGA GCCGCCCCGGCCCCGCGCCCCCCCGGGAGCTCCGGGCCCTGGGCCTGGTTCGGGAGCCCC CGGCAGCCAAGAGGAGGAGGAGGAGCCGGGACTGGTCGAGGGTGACCCGGGGGACGGCGC CATTGAGGACCCGGTGAGGGAAGGAGGGCGAGCGAGCAGGCCGGCGGCTGGCCGGCCGGG TCACTGGAGGCCCAGAGCTCGGGCGAGCGGGTGGCAGGCGGGGGGTGGGGTTGGGCGGGG AATAACGTGGCTGGGGCCGGGTCGGGCCGGGGATGGGTCAGCGATCACTACAAGGGGCCC GACTGGCTTGATTCGGGCGTCACGGTTGCCTAGTGTTGTTCTAGAGAGGGTAGCTTTTCT TTTATCACGACCCTCGCATGGGGCGAGGGAAATGGCCGAGCATGGCTGAGGCCGCGCTCT GGCCGAGAGCAGGGCACAGCCCCTGCGTTGGTTCCTCTTAAGCTGTCCTCCATACCCTCC CCACTTATATTAGGAGCTGGAAGCTATCAAAGCTCGAGTCAGGGAGATGGAGGAAGAAGC TGAGAAGCTAAAGGAGCTACAGAACGAGGTAGAGAAGCAGATGAATATGAGTCCACCTCC AGGCAATGGTGAGTAACTGGCGGTTGCACGCGGAGCCCGGGTTCTCGGGTTGGAAGGGTT GTGGGGAGGATGGGGAATGTGGGGTTAGATACTCGGCACCCTGGAGCTGCTTGTCTGAGC TATTATGACTGTGCCGCGGTCATAGTCCGTTGTGTGTTCCTCTGACCTTTGTGAGGCAGA ACGTATATTTTGGTGGTGGTAGCCTTGTGCCTCCCTTTGTGCCTGTTATAATTGTGTTGC TCTTTGTTCTTAGTCTACGTCTATCTTTCTTTGTAGAGGTTGCGTGCTCGCATTTGACCT TCAAATCTAATAGTTTTTCCTCCAATTGGAGACGCTTTAGGATTCTAAGAGAAAGCAAGC TGCAAGGGGTTTCCCCTTTAATCTAGAAATGTGGAGTCTCAGCCCACTTAATTTTGCTCA CTCTTAAAAGCATTTCAACCAAAGCCATTCATTAGGGATTTGATTTGGAGGCAGGAGGGA TTCCTATACTGTTTTAAGTGTGTATTAATTCTTTCAATTTATTGAATATTTAGTGAGTAC CTGCTATGCACTAGGCACTATTCTCGGTTGTGGGTACAGCAGGGAACAGCACAGACCAAA ATCTTTGCCTTCACTGAGCTTATGGGATAGTGCTGGTGGTGGAAGTGCAACATATTGGTC AAGTAGAAAACAAGTGTGTGGTTTTTGTAAAAAATTATTTTTTCCTGATAGCTGGCCCGG TGATCATGTCCATTGAGGAGAAGATGGAGGCTGATGCCCGTTCCATCTATGTTGGCAATG TACGTACTGGGGCTCTGACTGGGGTTGGGGGCAAGTTCTTCTTTTGGGGAATTATTTAAT AGTCCTGAAAGGAACATCTCCGGGATAGATGTGGTTTTGGGTGTGGAGGGAGTGTGGGAA GGAGGTTAAAGGTAATGGAATGATCAGTAATCAGCAAAGGCTCTGGGTTTGGAAGGAAAA GAGATTAATTCCTCAAATTACCAGATTTCATGTGCTTTGGTGTATGATGGCCCAGACCAA AGGCTCGGGAGGGTTCCTTTTGAGACAGGAATTTGCCTGGTGCCTGTGAAATTTTTCTCC TCTCATCAGGTGGACTATGGTGCAACAGCAGAAGAGCTGGAAGCTCACTTTCATGGCTGT GGTTCAGTCAACCGTGTTACCATACTGTGTGACAAATTTAGTGGCCATCCCAAAGGGTAA GTAAAGGGGAGTAAGTTGAGATAATTTAAATTACAGTGTACAAATAGATAAATTATGTTT TATATTGAGCAGTAAGTTATTTGGTGTTAACACAGGTGATCTGTGTCATTTAAGATCATG GCATTAATGTTGATATATCAGGAGTTGCACCTAAATGTCTTCAGAGGCCAGATAACAAAA ATGAAGGCTAGATGTGGGTGGGATTACGAACTAGAAGGGGAGGGGCAGCTTCTACTTGGC CTATTATGGCCATATGGAAATTCAGGCCCTGTGTGTCTTATTTTTACAAATTTCAAAGAG TAGCTGGAAATTTTAAAATTTAAATGATTTCGAATGATTGAAATTTTCCATTTAGAAGAA TTTTGACAAATAAAAAATATAACTGCATTGTAGCCCAAAACGAAGCATGCCTGCAGGTTG AATTTGACCTGTGAGGTATTTGTAACCTCAGAGAGATACAATGACAATTCTTTTCAGGTT TGCGTATATAGAGTTCTCAGACAAAGAGTCAGTGAGGACTTCCTTGGCCTTAGATGAGTC CCTATTTAGAGGAAGGCAAATCAAGGTAAGCCTATGTCCATTGCTGTTCTAGTTGTGTAT AAACTCTCCAGGTTGCCTTTAAGGCTATCATTTGTTCATCTCTGACTCAGGTGATCCCAA AACGAACCAACAGACCAGGCATCAGCACAACAGACCGGGGTTTTCCACGAGCCCGCTACC GCGCCCGGACCACCAACTACAACAGCTCCCGCTCTCGATTCTACAGTGGTTTTAACAGCA GGCCCCGGGGTCGCGTCTACAGGTCAGGATAGATGGGCTGCTCCTCTTTCCCCCGCCTCC CGTGAGCCCCGTATGCTTCCTCCTCTCTGGTCTGAGGAACCTCCCTCCCCCCACCCCTCC CCGTGGTCTTCAGGAACTTTGTCTCCTGCCTGTGCAGGTTGAGGAAGGTAGTTGCAGGCC AGGCCAGAAGGCCAGCCTCATCATCTTTTCTGCAGTAGAAATTGGTGATAAGGGCTGCAT CCCTCCCTTGGTTCAAAGAGGCTTCCACCCCCAGCCTTTTTTTTCTTGGGAGTTGGTGGC ATTTGAAGGTGTTTGCGGACAAAACTGGGAGGAACAGGGCCTCCAGGCAGTGAAAGCACT GCTTGGACATTTGTTACTTTTTTCGGAGTTAGGGAGGGATTGAAGACTGAACCTCCCTTG GAAGAATACCAGAGGCTAGCTAGTTGATCCTCCCCAACAGCCTTGTGGGAGGATTTTGAG ATACTTATTCTTTATTTGAGCCAGTCTTGCAAGGTTAACTTCTCACTGGGCCTAGTGTGG TGCCCAGGTTTTTGCCTTGCTTCACTTCTGTCTCTACATTTAAATAGACGGGTTAGGCAT ATAAACCTTGGCTTTTCATAAGCTCTACCTGCCTATCCCCAGGAGTTAGGGAGGATCTAT TTGTGATGGCCTAGGGTTTAAGAGCTGTGGAGGACTGAAAACTGGATAAAAAGGGGGTCC TTTTCCTTGCCCCTGTCTCTCACTCAGATGCGCTTCTTTTTCGCCACTGTTTGGCAGTTT TCTGTTAAGCCCCCCTCCCCCTGCCCCAGTTCTCCAGGTGCGTTACTATTTCTGGGATCA TGGGGTCAGTTTTAGGACACTTGAACACTTCTTTTCCCCCCTTCCCTTCACAGTAACTGG GGCAGGGGCCTACGGGGAGGGGCTTGTACTGAACTATCTAGTGATCACGTTAACACCTAA CTCTCCTTCTTTCTTCCAGGGGCCGGGCTAGAGCGACATCATGGTATTCCCCTTACTAAA AAAAGTGTGTATTAGGAGGAGAGAGAGGAAAAAAAGAGGAAAGAAGGAAAAAAAAAAGAA TTAAAAAAAAAAAAAAGAAAAACAGAAGATGACCTTGATGGAAAAAAAATATTTTTTAAA AAAAAGATATACTGTGGAAGGGGGGAGAATCCCATAACTAACTGCTGAGGAGGGACCTGC TTTGGGGAGTAGGGGAAGGCCCAGGGAGTGGGGCAGGGGGCTGCTTATTCACTCTGGGGA TTCGCCATGGACACGTCTCAACTGCGCAAGCTGCTGCCCATGTTTCCCTGCCCCACTTCA CCCCCTTGGGGGCTGCTCAAGGGTAGGTGGGCGTGGGTGGTAGGAGGTTTTTTTTTTTAC CCAGGGCTCTGGAAGGACACCAAACTGTTCTGCTTGTTACCTTCCCTCCGTCTTCTCCTC GCCTTTCACAGTCCCCTCCTGCCTGCTCCTGTCCAGCCAGGTCTACCACCCACCCCACCC CTCTTCTCCGGCTCCCTGCCCCTCCAGATTGCCTGGTGATCTATTTTGTTTCCTTTTGTG TTTCTTTTTCTGTTTTGAGTGTCTTTCTTTGCAGGTTTCTGTAGCCGGAAGATCTCCGTT CCGCTCCCAGCGGCTCCAGTGTAAATTCCCCTTCCCCCTGGGGAAATGCACTACCTTGTT TTGGGGGGTTTAGGGGTGTTTTTGTTTTTCAGTTGTTTTGTTTTTTTGTTTTTTTTTTTT TTCCTTTGCCTTTTTTCCCTTTTATTTGGAGGGAATGGGAGGAAGTGGGAACAGGGAGGT GGGAGGTGGATTTTGTTTATTTTTTTAGCTCATTTCCAGGGGTGGGAATTTTTTTTTAAT ATGTGTCATGAATAAAGTTGTTTTTGAAAATAAAAA OMIM ID 602279