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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PRF1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5551 Official gene symbol PRF1 Full name perforin 1 (pore forming protein) Aliases ,FLH2,HPLH2,MGC65093,P1,PFN1,PFP, Gene summary The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] Location Chromosome: 10   Locus: 10q22 Gene position 72362531 - 72357104  Map Viewer Gene orientation minus Gene size 5428 bp Gene sequence >PRF1:complement(23161568..23166995):Length=5428 GAAGTGATGTGAGTGGTGGCTGGTGCAAGGAGCCACAGTGGGCTGCCTGGGGGGCTGATG CCACCATTCCAGGAGCCTCGGTGAAGAGAGGATATCCATCTGTGTAGCCGCTTCTCTATA CGGGATTCCAGGTAAGGAGAGAGCAGGGATTGGGGGGCCTGGGGCCCTGGGTGGAGGGGA AGAGGCTGATGGAGCAGGAAGTGCTGTGACCTATAAGACAAGACACCTGGGTCACAGACG GTGCCCATCACTAACTCGCTGGGCAGCCCTGTGTCCACCCTGGGCCTCAGTTTCCTCATG TATGAAATGAAGAGGTAGCGTGCAGTTTCTAAGGCCCTGCAAGTGCTGACATTAAAGCTT CTAAGAAAGCTGGAAAGAGGCTCCCTGGGACAGAATACCATGAGAGTCAGGATGAGGGCT GAGTTCACTGGATTAGGGTTATGACTGTGCCCGCCTCCTAGCTGGGATGAGCCCAGGGCC TTTGAAGATTCCCCTGGCCTCTTTGCCTCCCTGGGGCGAGCCACGCTGCCTGAAATTCCA CCCTTCAAGTCACACCTTTGGGCAGGGCAGGAGGCTCCAGCTATAATGGGGGCTCTCCAT AGCCCTCTTGTCTCAGAACCTGTGGTACCCAAGGGCAAAGGCCTTTGAAGAGCTCAGCTT GGATAAGGTTAGGCTTGGGTAAGGTTAGAGAAAGGAGGTTCCAGATCATAAACAGGCCCA GGCAAGGCCCCAGAAACACCTTAAAATTAGGAAGAACCTTCCAGACAATCATTGTCCATA GTAGGCAATAGGGGGGCCCCTGTCACTGCCGAAGGCCACAGAGCTTGGCAGGGAGTGGCA AAGAGGGGAGGGGCAGCAAGAAAGGATCTGAAGAGCAACCATCGAGGCCTCTCCCCACAC AAAATCCAAGGGTGTGGTCAGGTCTGCCCCTTTTTTTTTTTTTTTTTGAGGCAGAGTCTT ACTCTATCACCCAGGCGGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTC CTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGC CACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGAGGGGGTTTCACCACGTTGGCCAG GCTGGTCTCGAACTTCTGACCTCCAGTGATCCACCTGCCTCTGCCTCCCACAGTGTTCGG TTTACAGGTGTGAGCCACCACACCTGGCCAGGTCGGCAGATTTTATTCTAGAATTCGGGC TGATGTTATTCCATAAAGCTCAGAGGGAGAGCCCCAAAGGGAAAATGAGAAGAATAGGTG CAATATAGGACCTCATTTCTCTTCCAATTCTGTTAAGGGCTCAGTGGGAGGGAGAGAGGT TAGAGAGAGTGACAGAGACAAAGAAACAGAGTGAGAGTCAGGGTGGGCAAAGGGTGGCTT GTTCTGGGGCCAAAAATGACACTTCTTCAGAATGAAGGCTTCCTCAGGTCCCCAGACCCC TCCCTAAACCTGCTACAGCTACTCTGTCCCCTCTTCTGTGGCCACAGCCCCCTCCCCACC ACCCACAGTTGTGTCCTGGGGACAGAGCCATCCACCTAGATCCCCATTAGGCCTTAGGGA AATTCTAAAAAGGGGCTCCCCTTGGCTGGGCTTTTCCCCTCTCTGGGCCCATCTGTACAA TGTGGGGGCTGAACCAGGCCTATAAGGGACATACCAGCTCTGACATTCATTGAATAATGA CTTAAGAGATATCTCAGCCCCTCCCCTTCCATGTGCCCTGATAATCTGTGGCTGTGGGGG AAGGGAGCAGTCATCCTCCATCCCTCCACCCATGGCTTCCCAGAGCCCAAGTGCCCCCTG TCTCTGCAGCTCCATGGCAGCCCGTCTGCTCCTCCTGGGCATCCTTCTCCTGCTGCTGCC CCTGCCCGTCCCTGCCCCGTGCCACACAGCCGCACGCTCAGAGTGCAAGCGCAGCCACAA GTTCGTGCCTGGTGCATGGCTGGCCGGGGAGGGTGTGGACGTGACCAGCCTCCGCCGCTC GGGCTCCTTCCCAGTGGACACACAAAGGTTCCTGCGGCCCGACGGCACCTGCACCCTCTG TGAAAATGCCCTACAGGAGGGCACCCTCCAGCGCCTGCCTCTGGCGCTCACCAACTGGCG GGCCCAGGGCTCTGGCTGCCAGCGCCATGTAACCAGGGCCAAAGTCAGCTCCACTGAAGC TGTGGCCCGGGATGCGGCTCGTAGCATCCGCAACGACTGGAAGGTCGGGCTGGACGTGAC TCCTAAGCCCACCAGCAATGTGCATGTGTCTGTGGCCGGCTCACACTCACAGGCAGCCAA CTTTGCAGCCCAGAAGACCCACCAGGACCAGTACAGCTTCAGCACTGACACGGTGGAGTG CCGCTTCTACAGGTGAGAGCTGGGGCTAGGGGTGGGGGGCTGGAAAAGGCGCGGGAAACT CTGGGTGGTCTAGGAGCCCTGGAAAGGCAGAGTCCTCCAATCAAACTTGGAGGCTGCTTC CACCAGGAAGAAACTGCAATCCTGGCTCTCAGACTTCAGGTGATTCAGCCCTGTGGCCTC CTCTCATCCAGGAGGTCCCAAATCTGGGAGTGCCCAGTGAGACATCAAGTAGAGAGAAAG TGAGTGAGACCATGCCTGAGAGTCCCAGCAGGGTGCCATTTAGGTCTAGTGAGTACTGAA CCCTGCCTTTCCTGGGCACAGCCAGCCTTCCACAGAGTCCTTCCTGGATAGGGACAGAGG CAGGAGACCTGGCCGGGTCATCCTTCCTCATCGCTGTGTGACCTTGAGCATCTCACTTCT CTCTGAGCTTCAATCATCCACTCAACCAATACTCACACCTGCCTGTGGCAGGGCCACACT GCTGAGCGACAGCAGTCACTACCCTAGCCCCTGGGAGTAGGAAGTATGGGACCCATATTC CACGTCTGAGAAAGGCACAGTGTTTGTAGGCCAGACCCAAGTCACCTGGTCTGATTCATC AGACCTGGGGGCCACGTTTCCTCCACAGAGAGGCCGAGCATGGCCCAAGCTGTCAGGATC CCGGGCATGTGGGACCCATCCAGGGGGACGGATGGATGAAGGCCACATGACTAGTTCCAA AGTTCGACAGATACCATCAGTGCAGGATCATTGCTTTTATGTTCTTTTTTACTTTTTCTT AAAAAAAAAATAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGC TCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCATGAACCACTGC TCCCGGCCAGGATCATTGCTTTTATAATAAGAAAATTAAAAGGAAAGAAAAAAATGTTAT TTTGAAAAGGAAAAGAGAAAATACCTATACAGAGCACTGAGGTCCCTGAGGGGTGAGAGC GGAGGCATTCCTGCCAGCCCCGTGCCACTGTGCTTGTGCTCTGGAGCCGGGCCCCTGGGT TCCAGTCCTAGTTCTGCCCACTTACATGTGACCTTGAGCAGTCCTGAAGGAGTTATTTGA TTGAATGGGGGAAATACTCCCCTGGGCCCAGCTGAGGTCTCTCTCTTCTCGCAGTTTCCA TGTGGTACACACTCCCCCGCTGCACCCTGACTTCAAGAGGGCCCTCGGGGACCTGCCCCA CCACTTCAACGCCTCCACCCAGCCCGCCTACCTCAGGCTTATCTCCAACTACGGCACCCA CTTCATCCGGGCTGTGGAGCTGGGTGGCCGCATATCGGCCCTCACTGCCCTGCGCACCTG CGAGCTGGCCCTGGAAGGGCTCACGGACAACGAGGTGGAGGACTGCCTGACTGTCGAGGC CCAGGTCAACATAGGCATCCACGGCAGCATCTCTGCCGAAGCCAAGGCCTGTGAGGAGAA GAAGAAGAAGCACAAGATGACGGCCTCCTTCCACCAAACCTACCGGGAGCGCCACTCGGA AGTGGTTGGCGGCCATCACACCTCCATTAACGACCTGCTGTTCGGGATCCAGGCCGGGCC CGAGCAGTACTCAGCCTGGGTAAACTCGCTGCCCGGCAGCCCTGGCCTGGTGGACTACAC CCTGGAACCCCTGCACGTGCTGCTGGACAGCCAGGACCCGCGGCGGGAGGCACTGAGGAG GGCCCTGAGTCAGTACCTGACGGACAGGGCTCGCTGGAGGGACTGCAGCCGGCCGTGCCC ACCAGGGCGGCAGAAGAGCCCCCGAGACCCATGCCAGTGTGTGTGCCATGGCTCAGCGGT CACCACCCAGGACTGCTGCCCTCGGCAGAGGGGCCTGGCCCAGCTGGAGGTGACCTTCAT CCAAGCATGGGGCCTGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGTGAAGCTCTT CTTTGGTGGCCAGGAGCTGAGGACGAGCACCGTGTGGGACAATAACAACCCCATCTGGTC AGTGCGGCTGGATTTTGGGGATGTGCTCCTGGCCACAGGGGGGCCCCTGAGGTTGCAGGT CTGGGATCAGGACTCTGGCAGGGACGATGACCTCCTTGGCACCTGTGATCAGGCTCCCAA GTCTGGTTCCCATGAGGTGAGATGCAACCTGAATCATGGCCACCTAAAATTCCGCTATCA TGCCAGGTGCTTGCCCCACCTGGGAGGAGGCACCTGCCTGGACTATGTCCCCCAAATGCT TCTGGGGGAGCCTCCAGGAAACCGGAGTGGGGCCGTGTGGTGAGAACAGTGAGCTTGGAA AGGACCAGTATGCTTGGACTGAAGGGGTTCTCACAGTGGGAGCCAGGGCTGTCTTCGTAT TCCCATTAGACCAAGCTTGTCCAACCCGAGGCCCGCATGCGGCCCAGGATGGCTTTGAAT GCGGCCCAACGCAAATTCGCAAACTTTCTTAAAACATTATGAGTTTCTTTTTGCTATTTT TTTTTTTTTTTTAGCTCATCGGCTATCGTTAGTGCTAGTGGATTTTACATGTGGCCCAAC ACAATTCTTCTTCCAACGTGGCCCAGAGAAGCCAAAAGATTGGATACGCATCAGACAGAT GGAAAAGGGAGATTCAGACTGTTTTTCAGGGAGGTGGCTGGGTTTACACGCTAATCCCGA TTCACCCTGTCCAAACTGCCTAAGCCCTCCGCCATTCTCAAGCCCTGCAGTCACAGCTAC ACAGATCACAGCTTCAGCCAGGAGCTGGGCAGAAGGCCAAGAGGCTGTTCCCACCAGGCT GCTCAGGGCTGGTCTTTTAGGACCCTTCCCTTGAGCCCTCTATGGTGTGGCAAAGCCTTC ATTGCCTTAACTGGAGCCCCATCAGCTCCAGCTGCTCTGTCTTCTTTGCCCACAATGCTT TGCCCCTGAGACAAATGGAGGCCTGTCCTGACCTGTCTCACCATGTACATAGCTTGATAA AGGGCCAATAAATATGATGTTATGGTGA OMIM ID 170280