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BTK (NM_000061) - Bruton tyrosine kinase

Tyrosine-Protein Kinase Btk Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of BTK protein. View all 3 isoforms
BTK: tyrosine-protein kinase BTK isoform 1
Description:

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 failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].

Strand
-
Chromosome
X
Protein
659 residues
All mutations
173
PTM sites
30
CDS
100,604,872 - 100,630,272
Transcription
100,604,434 - 100,641,212
9.41% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 695
UniProt
Ensembl