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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PJA1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 64219 Official gene symbol PJA1 Full name praja ring finger 1 Aliases ,RNF70, Gene summary This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked mental retardation disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq] Location Chromosome: X   Locus: Xq13.1 Gene position 68385365 - 68380581  Map Viewer Gene orientation minus Gene size 4785 bp Gene sequence >PJA1:complement(6698569..6703353):Length=4785 CACAATCACTTCCGCCGCCGCAGTCGCCGCCCGCCCCGCTGCTGTCTGGCGGGGGAGGAG CTCGGGACCGGGAGCAGCGGCTCTGGCGGTCGTGGCGGTCGGAGATCCGAGAGCTCTGCT TCTCTGAAAAGCGTGTGGCTTTCTGGACTTGGTGAGTGAAAGGCTGATTGTTTCCTCGAT TCATCCGGGCGCTGGCGGTGGCGCGAGTGGCCGGGCGCGGGGCGAGTGGCCGGGCACGGG GGCGAGGATTTTGGGGGGTTCCTGGGAACTGCTTTTCAGGTTCGCCCCTCGGGAAGGGGT GGGGCGGACGCGGGACCTGACTGCAGAGTGAGGCCCATGTCCTCCATCGGCCTGTTCTGG GGCCACATCTTCCGCTGCCGGAACCCCTTTGGTGTGGCGCGGTCCCCACTCGAGTGGCTT TCATCGCTATTGGGAGGGCAGTGGTGGTCGCGGCCCTCTCCCACTTCTCCCTGCCTCTCC TCCCCTCTCCTTCCTTCTTCCCTCCTCGGCCCCTTTGCGGAGCACTCCGTGGCCTTTCTT CCCATATTTTGCTGTTGTTTTGCCAAATGGTAAATGGTTAAGATTTTTAGGTAAAAATAC TGTTCCCAGGGAAAAAATTGGAAGGAAAAAATAATTATTCTCAGGGAAAACTAGACCCAC GCACGCCCTTTTCTTTCATTTTCCCTCTCCCCTGCCACATCGGTTGGGGTCTCCCGTTTG AGCTGATGGCCTTTTCCCACCTCTTTTTATGACATTGCGTCCCCCCTACCCCCCACCCCC CGTGTGTCGCGAGCACGCGCCCCCGCACAGAAGCCTTCCATTGCAGCCCCCTCCTTGCCC CTCCATCCTCAAGGTTCCAGTGCTTCCCCTCCCCCGCGCATGCGCAGGCACACGCAGCAC ACACCCTCTCACACACCCTCACACCCTCACACCCTCCCATGCCTTCCCCCTCCTCTATCC GCCTACCACATACACACCTCTAGCACCGGCCCCCTCCCTGCTCGGCCTCTGCGTGCTCTC GCGAACACATGCCTATTCACACACCCCCTCCGGCTGCCCTCCTTCTTCCTTCCTGTCATA TACACACATAAGGACATCCTTCTATCGCTGGCCAGTGACATACATATGTAGCCACATGTG CTCATTCATACCCCCTTCTCAAATGCTCTCCTCTATTGCTCTGTCTGCCACGTGTGTCAG ACACAGCTCTCTTTTGCTGGTCCCTGAGGTGCACACACTCGCACTCACATAAATCCTTCT ACGGGGACACAACCTGCCTCCCTGCTTGCCATATCCACACAGGCAGGCATCATTCTTTGA TTGCCTGCCTCTGTTCCATCCACCTCAAGCACATCCCTCTCCAGTGCTGCGCACCCCCCA CCCCCGCTTCCATTTGTGCCTGCTGCATTTGCTCACACTGACATTTCTCCATTGTTGCCT CCCATTTTGACTAACATACACACACACAAACTCTCAGACACTCCTCTCCATTGCCAACCA TACACTCCTCTGCCTGTGACATACGCATAAACATGGGCATCCTTCTGTAGTTTCAGCTGC CTCACATACAGCTACACACACAAACACCTTCCCTTTCCTCATACATACACGCACCCCTCT CCTCCAAAGCCACCCCACCCATGCCTGTCATTTTCATACCCACATCCAGAATGGGTCTCA TTCTAACACTCATACCCTTTCCCCCTACAAACGTAAACATCCCTCTGTTGCAGGATTACT GGTCCCCTTCCACCTGTCCCTCTCCTCTTGATAGACAGACACATAGGCACTCGTGCACAC ACGGCGATCTGTATTTTCCACTCTATTCCAATTTGCATTTCTCCTGTATGTCTGCAGCAC TCAGAAAAATGCAGACACCCCATAAAAAAAACTATAGCAGTCTTTCCTTTCCCCACGTTG CACAATTCCACAGTACTTCACCCACCTTCCAAGCGTCCAGTCACCCCCCAACCTTCCGTC AGATTCTCCTCTAAGTCTGGCTTTCCTGCAAACCCAGTCTTGTAATCATTTTGCCAACAT TAAAAATGTGTTCCAGGTCTACACCTGACAGTCACTGGAATGCTACTCCAGGCCTTAGAA GAAAGTGAAACTAATTTTAAAGGCCCCTTATTCTTTCTGTTACCTGCCTGCTGAAGTGAA AATAAATCTCCCTGCTCCTTTATTCTAAACTGATTTTACTTTCCCATCTCAAAAACGTGT GCAGGGAGCAGGAGCCCTCCTACCCGAGCCCCAGCTGTATTGGAAACCCTCCTAAGTCAG AGTGATGGGTCAGGAATCTAGCAAGCCTGTATGGCCCAATCCAACAGGAGGGTATCAGTC CAATACAGGTAGGAGGTATGGAAGAAGGCATGCTTATGTCAGTTTCAGGCCACCCACGAG CCAGCGGGAAAGGATTGCCAGCCAGAGAAAGACGAACTCCGAAGTCCCAATGCACAGATC AGCCCCCAGTCAAACCACCAAGAGGAGCCGATCGCCATTTTCCACTACTCGTCGTAGTTG GGACGACAGCGAGAGTTCGGGAACCAACCTGAATATTGATAATGAGGACTATTCCAGGTA TCCGCCAAGAGAGTACAGAGCTTCGGGTAGCAGAAGAGGAATGGCCTATGGACATATTGA CTCTTATGGGGCAGATGATAGTGAGGAGGAGGGGGCTGGGCCTGTTGAGCGACCGCCAGT GAGAGGGAAAACTGGCAAGTTTAAAGATGATAAGCTGTATGACCCAGAGAAAGGGGCAAG GTCTTTGGCTGGGCCACCTCCACATTTCTCTAGTTTTAGCCGTGATGTGAGAGAGGAGCG AGACAAGTTAGACCCAGTCCCTGCAGCAAGATGCTCAGCTAGCAGAGCTGACTTCCTGCC ACAAAGTAGTGTGGCCTCACAGTCGTCTTCTGAAGGCAAGCTGGCTACAAAAGGTGACAG CTCGGAGAGGGAGAGAAGGGAGCAAAATTTACCTGCACGTCCCAGCAGGGCTCCTGTGAG TATTTGTGGTGGTGGGGAAAACACCTCAAAGAGTGCAGAGGAACCTGTGGTCAGGCCCAA AATCAGAAACCTGGCAAGTCCAAACTGCGTGAAACCAAAAATTTTTTTTGATACTGATGA TGATGACGATATGCCACACAGTACTTCCAGGTGGAGGGATACCGCCAATGACAATGAGGG CCACTCGGATGGCCTGGCAAGAAGAGGGAGAGGCGAGAGTTCAAGTGGCTATCCCGAGCC AAAGTACCCTGAAGACAAACGGGAAGCGAGGAGTGACCAAGTGAAACCAGAAAAGGTGCC GAGACGACGACGCACCATGGCCGACCCTGACTTCTGGACGCACAGTGATGATTACTACAA ATACTGCGACGAAGACTCTGACAGTGACAAAGAGTGGATTGCTGCTCTGCGTCGGAAATA TCGAAGCCGAGAGCAAACCCTGTCCTCCAGTGGCGAAAGCTGGGAGACTCTGCCGGGGAA AGAAGAGCGGGAACCTCCACAGGCTAAGGTGAGTGCCAGCACTGGCACCAGCCCTGGCCC CGGTGCTAGTGCCAGTGCCGGGGCTGGCGCCGGGGCCAGTGCTGGCAGCAATGGCAGCAA TTACCTTGAAGAAGTTCGAGAACCATCTCTTCAGGAAGAGCAGGCATCCCTGGAAGAAGG AGAAATTCCTTGGCTCCAGTACCATGAGAATGACAGTAGCAGTGAGGGGGATAATGATTC TGGTCACGAGTTGATGCAACCTGGGGTATTCATGCTGGATGGAAACAACAACCTTGAAGA TGACTCCAGTGTGAGCGAAGACCTAGAAGTGGATTGGAGCCTCTTTGATGGATTTGCAGA TGGGTTAGGAGTGGCTGAAGCCATTTCCTATGTGGACCCTCAGTTCCTCACCTACATGGC ACTTGAAGAACGCCTGGCCCAGGCAATGGAAACTGCCCTTGCGCACTTGGAGTCTCTCGC AGTGGATGTAGAGGTGGCCAATCCACCAGCAAGCAAGGAGAGCATTGACGCTCTTCCCGA GATCCTGGTCACTGAAGATCATGGCGCAGTTGGTCAGGAGATGTGCTGCCCCATCTGCTG TAGCGAATATGTGAAGGGGGAGGTGGCAACTGAGCTGCCGTGCCACCACTATTTCCACAA GCCGTGTGTGTCCATCTGGCTTCAGAAGTCAGGCACCTGCCCCGTGTGCCGCTGCATGTT CCCTCCCCCACTCTAAAGACCAAGGCCGTTTACTCCTGGTCTGATTATTTTCCCCATCTG AAATCCACAATACTGCAGGAGCCCTCTTGAAATTAACAATGGAAATAAAACCAATCAGTC AGTTAGCCTAAACCTATTGATTCCTCGTGATTATTTCCAATGTGAAAACAGTTGTGTATG ATTGCATTAAAAATCATATCATCTTTTAGAGGTTAGAAAAGGGAAAACTAAACTTTCTAA ATGCTACTTGAGATTGCAGTAAGAAGATACGTTTTCTAACCTGAAAGTTAAATCGCATTT GTTTTCTTCAGTAGAATGGGAATGTGTTGCTGTTACTTGTAATGTCAAGTTTATCTGTTA AATATGTCCAAAAGGCAAAATCATTTTTGTTGCATGTTATGGGTCGATGTTCCTGTAATT GCAGTGCCGTAAAAGCTTATTAAAGTTGTTCTTTTGGTTTTACATGGTATAATGGAATTT TTTGGTTTTGTCTGAAGCAGTGGTACTGAATGACTTTATAATTGATCCCTTGCATTTGCA TCAAAAGCTTTAGTTTCACTGGAAATGCTGACTTCAACAATTGCA OMIM ID 300420