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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 4860 Official gene symbol PNP Full name purine nucleoside phosphorylase Aliases ,FLJ94043,FLJ97288,FLJ97312,MGC117396,MGC125915,MGC125916,NP,PRO1837,PUNP, Gene summary This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq] Location Chromosome: 14   Locus: 14q13.1 Gene position 20937538 - 20946165  Map Viewer Gene orientation plus Gene size 8628 bp Gene sequence >PNP:1937538..1946165:Length=8628 ATAAGCCAGAGCCTAGACCAGTGAGCCAACTGTGCGAACCAGACCCGGCAGCCTTGCTCA GTTCAGCATAGCGGAGCGGATCCGATCGGATCGGAGCGGATCGGAGCACACCGGAGCAGG CTCATCGAGAAGGCGTCTGCGAGACCATGGAGAACGGGTGAGGAGGGCACCAGGCCCGCA GGACCCTTGGGGAGGGGCAGGTGCTGTGACCCGGGAACCTGGCACACTGGGCCCAGAGGG AGCTGGCGGAGGGAGCGAGCGCCCAGGGGATGCAGAGAGGCCTGGCACTGAGCCTAGTGT CGGGAGCAAGGCGGCAGAGTCATGCGGCAGCCAGCGCGGGCAGGGACGCACGCGGGAATC GAGCTGGGGTGGCGCCACCGGAGCAGGAAGGGGACAGGTCGGTGCGGTCTAAGCTACTCC GTAAAAGCAGCCGTTGTGTGTCTCCGTGTGTGTGTTAGGGGAACAAGTGGAGAGTGAGTA TATGTATATATCCCTCACTCCATACCAGGAGGAGGTCTCCTCACCCCCTGCGCTCTTCAT AAATTCCCATGCTAGGGTCTGGGTAAAGCTGCGAGGTACTTTTGGTGCTCAAATTCGGAG TTCCTCCTTTAGAGGCAAGATTACTCACCTCCTTTGCCAGTTGCACTCCTCCCTTCCTTC CAGACTGGCAGTATGATTAACTCGGTGGGAAGTGACTGCTAAGTGGAGACGGAAATCAGT CACCGAACTGAGCAACAGTCCTGTGCTCACTTCCCCCACCCCACGCCTTTGAAAACTCTT CTCTCGGCTTGGGTCCTGGATATCCCAGTCCAAGTGACCTGCATTAGGCATCACAGTTGC TTTTGGATGCCCAGGGAGCCAGGGTGTTCTTGAGGGGACTGATAGCCAATGAGGAAGTGC TGTGAGATGTGGCTAGACATGCCATGTGGCGGCAGCTTCACACATTCATTTCCTTTGCAC CTTTTGGGGATGCCATTTGATTAACATTTTACCAGCTTAATTGCTTCTCTCCATTGTCCT GTGGCTCCGTTGACCAGCCCCCAACCTACCTGATCCAACTGCTTCCCTGAGGGTAGCCTG GTGTATTGTGCAATCATGTCTGGTTTCCCGGGCTCTGCTTTCCAAGTAAAAAATTTCCTG TGAAAGCTTGGTTAGTTGTGTTCAGCTCTGTCACACCTCATTGCCACCTCTGAAAGCAAC GTTTGGTCTTCCCAGATGGATGTGAGAGAACTGGACTTGGAACTGGGAGAAAAGTAACAC GGGTTGATTCTTGCTAGTGTAGGGGTTCTGGGTAAGTGCCCTGAGGTTTCTGAAGAGCAA AGATCCTCGGTGGAGAGAAAGGAAACTGGGAGGAGGCAGGGAGGGGGAAGGACAGGAAGA AGACCACAGGCAGGTGGAAAGCAGGAGAAAGATTCAAATACTTTGTGTAACAGAGCCATA GGTCTTTGGAAGTTGTTAGCAAGTATTCAATTCATTTTCAGATTGAGCCTATAAGATAGA TGGGGCCAATTTACATCCCTTGTTTATACCTGAGAAAATAATTTAAAGCACAAATTACAT GCCTAAAAAGACAATATTGGGACTAGAATCTAGGTCGAATTCTGCTTCCCTCCAGACCAG CAATTCCTAAACCTGGTTTTATTTTATTTTATTTTTATTTATTTATTTTGGAGTCGGAGT CTCGCTCTGTCTCCCAGGCTGGAGTTCAGTGGAGCGATCTTGGCTCACTGCAACCTCTGC CTCCCGGGTTCACACCATTCTACTGCCTCAGCCTCCCGTGTAGCTAGGACTACAGGGGCC CGCCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCAACATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACC TCGGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACCGCGCCCAGCCCCTAAACCTG GTTTTAAAATCAAAATTACATGGGCTTCAGAATCTGTTTTTTGTGGGGGTTTTGTGTGTG TGTGTGTGTGTGTTTTTTATAGGGTCTCACTCTGTCACCAGGCTGGAGTGCCAGAATCTG TTTTTCTAACAAGCTTCTGCTGAGAATTTGTGTAGTCAGTCCTGGTTTAACCTTTGACAA CCAGTACTGTGGACTGGGTCTGCTTTTTTGTACAGCAGTTTATCTAGTTTTTTGTCTGGA ATTAACCCCCTTGTGATCCAGGGAGCTAAGAATGGCACGTAGACCTCTACCAGGGGTGGT CCCATTGTGTTTTATTGGTTAAAACAAAAAAGAAATGTAGCCCTTAAGTCTTTGGCTGAG GAAGGAACTGGAGGAATGAGGGTTCAAAAGGAAATTTGAGTTTATCTCTGCCTTCATAGT AGTTGGTCTTAATTACATTTTGAATGTCTTTGGGGAACAGGTAAGGTAATAAGGGGGATT TTACTAGGTGGGCACCACCCTCAGGAAGGGCTTAATCCCATTTTGAGTACTCTTCTTGGG CTCCCTCCTGGCCAAGCCCTTTTACCCTCCCTAATTTGATTATTTCCTTGCACTTCCCCG TACACTCTGGCCCCTTCCTCTCTAAACCTTTGTCATAAGGATAAGTATGCAGCTTGCCAG TGTTCAGTGGATCCAACACTGGAGTTGGGCCTGTTAGTAGAAACAGGCTTTATTAACTTT TGCCAGGCTCTAGAATGGAGGTAGTTTCATATCAGACTTGTAGTGGGCTTGATTCAGAAA GAAGGGTGGCTGAGTAGATGGAAGAGCATAGTATGGCCTTTCCCTCTGTGCCAGCTTCTC CGTCCCTGCTGCCTCAGTATACCTGCCAGCCTTTTTGCACCGAAGGTCATTTGTCTGTGA TGCCCTTGGAATGGGAGCAGAATTCACCTTGATATTTTTTCTCCCCCAGATACACCTATG AAGATTATAAGAACACTGCAGAATGGCTTCTGTCTCACACTAAGCACCGACCTCAAGTTG CAATAATCTGTGGTTCTGGATTAGGAGGTCTGACTGATAAATTAACTCAGGCCCAGATCT TTGACTACGGTGAAATCCCCAACTTTCCCCGAAGTACAGGTACTGGCAAGGGAAAGTGGG GAATGGGACTGAGGGATGTTCTTGGAATTCTGTGGAACACAACCAAGGAGGCCAATGTTT CTACTCCTTGACCTAGCATTTCACTGAAGACAAATGTTGTAAGAGAGGAGAAAAGCCCAC CATGAGTCAGAGTGACTTTAGGAGATGCCTCTAGCAGACATCCCATAAGAGACAGGACAT GTGTGTGTCAGTGGACTGAGGCTAAGACTCAGAAGAGGGCCAGGTGACAGGGGCCAAGTA AAGGGCAAGGGTTGTTTATTTGGTTTACGTAATTTCTCAAATAACTAACTTCTGTTGGTT TATTTATTAATTTTTAAGATTTCTATCTTCTTTTCCCTGGAGAGTTAAGAATTTTTTTTT AAGACCTGTCAGCAGGAAAAGACCTTTAATAGCTATTTTTTTAAACTCTTTAACACAAGA CTGGAAGAGCAGAGGGAGAAGGTGAGGGAAATATTAACAGAGGGTGTGTGAAGGGCATAC TTCTCTAAGGGAGATAGTAGTGACGCTGGCTCCACTGGCCACTCCTACCCCCAGTGAGAA GGGCACTGCATTAAATGATAAGTGGGTTAGTTTTTTTAAGCTTATCAACATGTTTATTTT TTATACTCCACTTGGGTTTCCTTTGTCAACTTTATTACTGTTTTTGTTTTGTTTTTTTGC ATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCC ATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTA ATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGC ATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAA ATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAG CTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGT TTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTT ATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCT CACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCT GGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGG TTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGG CTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAA TTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGT GACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAAT TTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATT TCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTA TTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTAT GGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGA ACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAAT GCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTAC TTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATA TGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGG TCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGG CAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGG TTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGG CTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAG TGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACA TTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCA GGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAAC CTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGT TACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATT TTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCC CTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAAC AAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCT TTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGA AGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGA GTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAA ACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAG CACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTT TTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC ACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTG GGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGT TTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTG GCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTG TTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGG AACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATT GGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCT TTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCAT CTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCT GAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAG CCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCT GCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTG GATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGT TATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTAC CAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTA ACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAG CTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTC CACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGAC CCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTT GTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTT CTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGG CGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTG CCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAG CAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAA ATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAA TGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGG GCTGGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTA TCTGCTTCTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTATGTGAGGGCAGCAAAGG ATGAAGAAGGGCAAAATGATGAAAGGTGAGGTGGAAAGAGGTTATGAGATGGTAAAGAAA AGTTAACTTCTGGCACTTGATTGCCACTTCTGTCAGGCTGGTCCTGCCTCTCTCCCTTGC CTTCTGATTGTTTCATTTCCTGTTTATTTGATCATATCTGAATTAGTTCACTGGTTAGCC TCTTCCTTAGTTCCCACTTCCTTACCAAAGCCCTAATTATATTTCCTCTTGTTTGCCTTT TCTCTCCTACTCTTCTCTAACATCTGCAGCCACACTCTCCATTCACTCCATGCTGACAAG GCAGTGGCAAACACTTTTCTCTGCTGCCAGCCACTCCACTGTTGACTGGATTGCTGCCAG CCCCAGGCAAACCTGTGAAGTTGTTTCATACTCTGCTTCTCTTTGAGTGCCTCCTTCTCT CCTTCCTCTTCCTTTCTGGGCTCCAGTCTTTCTCTTCACTTGTGCTTGTCAGAACCTCCC TGTGATACTGCCTCCAGGCATTTCCCCCATGTTGGCTCACCGCACTATTATCTTTGCTTA TCAACTTGCATTCAGCTGGCTGGCATGTTTCAAAACCACACTGCCCTCCCAGGCCTGTGT GCCTTTTGAGAAAGACCAGTGCTGGATGAGCCTCTAGTAATGACAACATTTTAGTTGTTA GTGGTATAATACGGAAGAGATATTTTGCACAGGCTGCTTTGGAGAACTTTCAAATTATCC TTTGTTTGGTAACTGACCTACTTAACTGCCCAATACAAAGAAAAAGCA OMIM ID 164050