| Entry |
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| Gene name |
BTK, AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
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| Definition |
Bruton agammaglobulinemia tyrosine kinase (EC:2.7.10.2)
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| Orthology |
| Bruton agammaglobulinemia tyrosine kinase [EC: 2.7.10.2] |
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| Organism |
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| Pathway |
| NF-kappa B signaling pathway | | Osteoclast differentiation | | B cell receptor signaling pathway | | Fc epsilon RI signaling pathway | | Primary immunodeficiency |
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| Disease |
| Agammaglobulinemias | | Pituitary Dwarfism (PD) |
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| Drug target |
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| Class |
Environmental Information Processing; Signal transduction; NF-kappa B signaling pathway [PATH: hsa04064]
Organismal Systems; Immune system; B cell receptor signaling pathway [PATH: hsa04662]
Organismal Systems; Immune system; Fc epsilon RI signaling pathway [PATH: hsa04664]
Organismal Systems; Development; Osteoclast differentiation [PATH: hsa04380]
Human Diseases; Immune diseases; Primary immunodeficiency [PATH: hsa05340]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Structure |
PDB: |
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| Position |
Xq21.33-q22
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| AA seq |
659 aa  
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEK
ITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEEL
RKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSS
HRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGK
EGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELIN
YHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK
WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDF
GLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYER
FTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES |
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| NT seq |
1980 nt  +upstreamnt +downstreamnt
atggccgcagtgattctggagagcatctttctgaagcgatcccaacagaaaaagaaaaca
tcacctctaaacttcaagaagcgcctgtttctcttgaccgtgcacaaactctcctactat
gagtatgactttgaacgtgggagaagaggcagtaagaagggttcaatagatgttgagaag
atcacttgtgttgaaacagtggttcctgaaaaaaatcctcctccagaaagacagattccg
agaagaggtgaagagtccagtgaaatggagcaaatttcaatcattgaaaggttcccttat
cccttccaggttgtatatgatgaagggcctctctacgtcttctccccaactgaagaacta
aggaagcggtggattcaccagctcaaaaacgtaatccggtacaacagtgatctggttcag
aaatatcacccttgcttctggatcgatgggcagtatctctgctgctctcagacagccaaa
aatgctatgggctgccaaattttggagaacaggaatggaagcttaaaacctgggagttct
caccggaagacaaaaaagcctcttcccccaacgcctgaggaggaccagatcttgaaaaag
ccactaccgcctgagccagcagcagcaccagtctccacaagtgagctgaaaaaggttgtg
gccctttatgattacatgccaatgaatgcaaatgatctacagctgcggaagggtgatgaa
tattttatcttggaggaaagcaacttaccatggtggagagcacgagataaaaatgggcag
gaaggctacattcctagtaactatgtcactgaagcagaagactccatagaaatgtatgag
tggtattccaaacacatgactcggagtcaggctgagcaactgctaaagcaagaggggaaa
gaaggaggtttcattgtcagagactccagcaaagctggcaaatatacagtgtctgtgttt
gctaaatccacaggggaccctcaaggggtgatacgtcattatgttgtgtgttccacacct
cagagccagtattacctggctgagaagcaccttttcagcaccatccctgagctcattaac
taccatcagcacaactctgcaggactcatatccaggctcaaatatccagtgtctcaacaa
aacaagaatgcaccttccactgcaggcctgggatacggatcatgggaaattgatccaaag
gacctgaccttcttgaaggagctggggactggacaatttggggtagtgaagtatgggaaa
tggagaggccagtacgacgtggccatcaagatgatcaaagaaggctccatgtctgaagat
gaattcattgaagaagccaaagtcatgatgaatctttcccatgagaagctggtgcagttg
tatggcgtctgcaccaagcagcgccccatcttcatcatcactgagtacatggccaatggc
tgcctcctgaactacctgagggagatgcgccaccgcttccagactcagcagctgctagag
atgtgcaaggatgtctgtgaagccatggaatacctggagtcaaagcagttccttcaccga
gacctggcagctcgaaactgtttggtaaacgatcaaggagttgttaaagtatctgatttc
ggcctgtccaggtatgtcctggatgatgaatacacaagctcagtaggctccaaatttcca
gtccggtggtccccaccggaagtcctgatgtatagcaagttcagcagcaaatctgacatt
tgggcttttggggttttgatgtgggaaatttactccctggggaagatgccatatgagaga
tttactaacagtgagactgctgaacacattgcccaaggcctacgtctctacaggcctcat
ctggcttcagagaaggtatataccatcatgtacagttgctggcatgagaaagcagatgag
cgtcccactttcaaaattcttctgagcaatattctagatgtcatggatgaagaatcctga |
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