Format

Send to:

Choose Destination

BTK Bruton tyrosine kinase [ Homo sapiens (human) ]

Gene ID: 695, updated on 24-May-2020

Summary

Official Symbol
BTKprovided by HGNC
Official Full Name
Bruton tyrosine kinaseprovided by HGNC
Primary source
HGNC:HGNC:1133
See related
Ensembl:ENSG00000010671 MIM:300300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1
Summary
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]
Expression
Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues See more
Orthologs

Genomic context

See BTK in Genome Data Viewer
Location:
Xq22.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (101349447..101390796, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100604435..100641212, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 132 Neighboring gene translocase of inner mitochondrial membrane 8A Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a Neighboring gene galactosidase alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
X-linked agammaglobulinemia
MedGen: C0221026 OMIM: 300755 GeneReviews: X-Linked Agammaglobulinemia
Compare labs
X-linked agammaglobulinemia with growth hormone deficiency
MedGen: C0472813 OMIM: 307200 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef A cell-based bimolecular fluorescence complementation assay demonstrates that HIV-1 Nef interacts with the Tec family members Bmx, Btk, and Itk, but not with Tec or Txk in 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126261, MGC126262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
B cell activation TAS
Traceable Author Statement
more info
PubMed 
B cell affinity maturation IEA
Inferred from Electronic Annotation
more info
 
B cell receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
MyD88-dependent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
adaptive immune response TAS
Traceable Author Statement
more info
PubMed 
apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
calcium-mediated signaling TAS
Traceable Author Statement
more info
PubMed 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
cellular response to interleukin-7 IEA
Inferred from Electronic Annotation
more info
 
cellular response to molecule of fungal origin IEA
Inferred from Electronic Annotation
more info
 
cellular response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
 
histamine secretion by mast cell IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of B cell differentiation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of type I hypersensitivity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of type III hypersensitivity IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of B cell apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of B cell cytokine production TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
tyrosine-protein kinase BTK
Names
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 tyrosine kinase
tyrosine-protein kinase BTK isoform (lacking exon 13 to 17)
tyrosine-protein kinase BTK isoform (lacking exon 14)
NP_000052.1
NP_001274273.1
NP_001274274.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009616.1 RefSeqGene

    Range
    429..41778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_128

mRNA and Protein(s)

  1. NM_000061.3NP_000052.1  tyrosine-protein kinase BTK isoform 1

    See identical proteins and their annotated locations for NP_000052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AK057105, BC109079, DA619542, DB636737
    Consensus CDS
    CCDS14482.1
    UniProtKB/Swiss-Prot
    Q06187
    UniProtKB/TrEMBL
    Q5JY90
    Related
    ENSP00000308176.7, ENST00000308731.7
    Conserved Domains (4) summary
    cd05113
    Location:397652
    PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
    cd10397
    Location:274379
    SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
    cd11906
    Location:217271
    SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
    cd01238
    Location:6166
    PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
  2. NM_001287344.1NP_001274273.1  tyrosine-protein kinase BTK isoform 3

    See identical proteins and their annotated locations for NP_001274273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and CDS, and represents the use of an alternate promoter, compared to variant 1. The resulting protein (isoform 3) has a longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AK309851, AV733045, DB331677, DB636737
    Consensus CDS
    CCDS76003.1
    UniProtKB/Swiss-Prot
    Q06187
    Related
    ENSP00000483570.1, ENST00000621635.4
    Conserved Domains (6) summary
    cd05113
    Location:431686
    PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
    cd10397
    Location:308413
    SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
    cd11906
    Location:251305
    SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
    cd01238
    Location:40200
    PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
    pfam00169
    Location:38167
    PH; PH domain
    pfam07714
    Location:436685
    Pkinase_Tyr; Protein tyrosine kinase
  3. NM_001287345.1NP_001274274.1  tyrosine-protein kinase BTK isoform 2

    See identical proteins and their annotated locations for NP_001274274.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks several exons in the 3' CDS compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AK057105, AL035422, AU107296, BC109079, DA619542
    Consensus CDS
    CCDS76002.1
    UniProtKB/Swiss-Prot
    Q06187
    UniProtKB/TrEMBL
    Q5JY90
    Related
    ENSP00000361971.1, ENST00000372880.5
    Conserved Domains (6) summary
    cd11906
    Location:217271
    SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
    cd01238
    Location:6166
    PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
    pfam00169
    Location:4133
    PH; PH domain
    pfam07714
    Location:346475
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:274350
    SH2; Src homology 2 (SH2) domain
    cl21453
    Location:346476
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    101349447..101390796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center