KEGG   Homo sapiens (human): 695Help
Entry
695               CDS       T01001                                 

Gene name
BTK, AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
Definition
Bruton agammaglobulinemia tyrosine kinase (EC:2.7.10.2)
Orthology
K07370  
Bruton agammaglobulinemia tyrosine kinase [EC:2.7.10.2]
Organism
hsa  Homo sapiens (human)
Pathway
NF-kappa B signaling pathway
Osteoclast differentiation
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Primary immunodeficiency
Disease
H00085  
Agammaglobulinemias
H00254  
Pituitary Dwarfism (PD)
Drug target
Other: 
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]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq21.33-q22
AA seq 659 aa AA seqDB search
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEK
ITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEEL
RKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSS
HRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGK
EGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELIN
YHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK
WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDF
GLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYER
FTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES
NT seq 1980 nt NT seq  +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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