• Gene id: 695

Gene Summary

• Gene Symbol: BTK   Gene   UCSC   Ensembl
• Aliases: AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA
• Gene name: Bruton tyrosine kinase
• Alternate names: tyrosine-protein kinase BTK, B-cell progenitor kinase, Bruton agammaglobulinemia tyrosine kinase, Bruton's tyrosine kinase, agammaglobulinaemia tyrosine kinase, dominant-negative kinase-deficient Brutons tyrosine kinase, truncated Bruton agammaglobulinemia tyro,
• Gene location: Xq22.1 (101390795: 101349446)     Exons: 21     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a
• OMIM: 608457

Protein Summary

• Protein general information: Q06187  
  • Name: Tyrosine protein kinase BTK (EC 2.7.10.2) (Agammaglobulinemia tyrosine kinase) (ATK) (B cell progenitor kinase) (BPK) (Bruton tyrosine kinase)
  • Length: 659  
  • Mass: 76281
  • Tissue specificity: Predominantly expressed in B-lymphocytes.
• Sequence:

  MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPP
  ERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDG
  QYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDY
  MPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGK
  EGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKY
  PVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMM
  NLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAAR
  NCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYER
  FTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES

• Structural information:
  • Protein Domains: (3..13-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (214..27-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (281..37-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (402..-)
  • Interpro: IPR035574  IPR011009  IPR011993  IPR001849  IPR000719   IPR017441  IPR001245  IPR000980  IPR036860  IPR036028  IPR001452  IPR008266  IPR020635  IPR001562  
  • Prosite: PS50003 PS00107 PS50011 PS00109 PS50001 PS50002 PS51113
  • CDD: cd11906
  • PDB: 1AWW 1AWX 1B55 1BTK 1BWN 1K2P 1QLY 2GE9 2Z0P 3GEN 3K54 3OCS 3OCT 3P08 3PIX 3PIY 3PIZ 3PJ1 3PJ2 3PJ3 4NWM 4OT5 4OT6 4OTF 4OTQ 4OTR 4RFY 4RFZ 4RG0 4RX5 4YHF 4Z3V 4ZLY 4ZLZ 5BPY 5BQ0 5FBN 5FBO 5J87 5JRS 5KUP 5P9F 5P9G 5P9H 5P9I 5P9J 5P9K 5P9L 5P9M 5T18 5U9D 5VFI 5VGO 5XYZ 5ZZ4 6AUA 6AUB 6BIK 6BKE 6BKH 6BKW 6BLN 6DI0 6DI
  • PDBsum: 1AWW 1AWX 1B55 1BTK 1BWN 1K2P 1QLY 2GE9 2Z0P 3GEN 3K54 3OCS 3OCT 3P08 3PIX 3PIY 3PIZ 3PJ1 3PJ2 3PJ3 4NWM 4OT5 4OT6 4OTF 4OTQ 4OTR 4RFY 4RFZ 4RG0 4RX5 4YHF 4Z3V 4ZLY 4ZLZ 5BPY 5BQ0 5FBN 5FBO 5J87 5JRS 5KUP 5P9F 5P9G 5P9H 5P9I 5P9J 5P9K 5P9L 5P9M 5T18 5U9D 5VFI 5VGO 5XYZ 5ZZ4 6AUA 6AUB 6BIK 6BKE 6BKH 6BKW 6BLN 6DI0 6DI
  • DIP: 34071
  • STRING: ENSP00000483570
• Other Databases: GeneCards:  BTK  Malacards:  BTK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006468	protein phosphorylation	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0005524	ATP binding	TAS	molecular function
GO:0019722	calcium-mediated signaling	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0050853	B cell receptor signaling pathway	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0002902	regulation of B cell apoptotic process	TAS	biological process
GO:0045579	positive regulation of B cell differentiation	TAS	biological process
GO:0042113	B cell activation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002721	regulation of B cell cytokine production	TAS	biological process
GO:0002250	adaptive immune response	TAS	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007498	mesoderm development	TAS	biological process
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001805	positive regulation of type III hypersensitivity	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0010033	response to organic substance	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0001818	negative regulation of cytokine production	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030889	negative regulation of B cell proliferation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0001812	positive regulation of type I hypersensitivity	IEA	biological process
GO:0002553	histamine secretion by mast cell	IEA	biological process
GO:0071226	cellular response to molecule of fungal origin	IEA	biological process
GO:0002344	B cell affinity maturation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0005524	ATP binding	TAS	molecular function
GO:0019722	calcium-mediated signaling	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0050853	B cell receptor signaling pathway	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0002902	regulation of B cell apoptotic process	TAS	biological process
GO:0045579	positive regulation of B cell differentiation	TAS	biological process
GO:0042113	B cell activation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002721	regulation of B cell cytokine production	TAS	biological process
GO:0002250	adaptive immune response	TAS	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007498	mesoderm development	TAS	biological process
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001805	positive regulation of type III hypersensitivity	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0010033	response to organic substance	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0001818	negative regulation of cytokine production	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030889	negative regulation of B cell proliferation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0001812	positive regulation of type I hypersensitivity	IEA	biological process
GO:0002553	histamine secretion by mast cell	IEA	biological process
GO:0071226	cellular response to molecule of fungal origin	IEA	biological process
GO:0002344	B cell affinity maturation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05169	Epstein-Barr virus infection
hsa04380	Osteoclast differentiation
hsa04611	Platelet activation
hsa04064	NF-kappa B signaling pathway
hsa04662	B cell receptor signaling pathway
hsa04664	Fc epsilon RI signaling pathway
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Agammaglobulinemias	KEGG:H00085
Growth hormone deficiency	KEGG:H00254
Isolated growth hormone deficiency	KEGG:H02035
Agammaglobulinemias	KEGG:H00085
Growth hormone deficiency	KEGG:H00254
Isolated growth hormone deficiency	KEGG:H02035
mantle cell lymphoma	PMID:23045577
X-linked agammaglobulinemia	PMID:12655572
X-linked agammaglobulinemia	PMID:15024743
Agammaglobulinemia	PMID:8162018
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881