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

Gene name
BTK, AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
Definition
(RefSeq) Bruton tyrosine kinase
  KO
K07370  Bruton agammaglobulinemia tyrosine kinase [EC:2.7.10.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04064  NF-kappa B signaling pathway
hsa04380  Osteoclast differentiation
hsa04611  Platelet activation
hsa04662  B cell receptor signaling pathway
hsa04664  Fc epsilon RI signaling pathway
hsa05340  Primary immunodeficiency
Disease
H00085  Agammaglobulinemias
H00254  Growth hormone deficiency
H02035  Isolated growth hormone deficiency
Drug target
Acalabrutinib: D10893
Ibrutinib: D10223
Spebrutinib (DG01863): D10730 D10731
Tirabrutinib hydrochloride: D11070
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04064 NF-kappa B signaling pathway
    695 (BTK)
 Organismal Systems
  Immune system
   04611 Platelet activation
    695 (BTK)
   04662 B cell receptor signaling pathway
    695 (BTK)
   04664 Fc epsilon RI signaling pathway
    695 (BTK)
  Development
   04380 Osteoclast differentiation
    695 (BTK)
 Human Diseases
  Immune diseases
   05340 Primary immunodeficiency
    695 (BTK)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.10  Protein-tyrosine kinases
    2.7.10.2  non-specific protein-tyrosine kinase
     695 (BTK)
Protein kinases [BR:hsa01001]
 Non-receptor tyrosine kinases
  TEC family
   695 (BTK)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Pkinase_Tyr Pkinase SH2 SH3_1 BTK PH SH3_9 SH3_2 Kinase-like SH3_3 Haspin_kinase Kdo APH SH3_4 hSH3
Motif
Other DBs
NCBI-GeneID: 695
NCBI-ProteinID: NP_000052
OMIM: 300300
HGNC: 1133
Ensembl: ENSG00000010671
Vega: OTTHUMG00000022022
Pharos: Q06187(Tclin)
UniProt: Q06187 Q5JY90
Structure
PDB: 

Position
Xq22.1
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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (6)   
   KEGG PATHWAY (6)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Drug (5)   
   KEGG DRUG (5)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (2)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (87)   
   RefSeq(nuc) (3)   
   GenBank (42)   
   EMBL (42)   
Protein domain (15)   
   Pfam (15)   
All databases (148)   

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