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BTK Bruton tyrosine kinase [ Homo sapiens (human) ]

Gene ID: 695, updated on 12-Aug-2018

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; Vega:OTTHUMG00000022022
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; 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 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
    Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen activates B Cell Receptor (BCR) leading to generation of second messengers, organism-specific biosystem (from REACTOME)
    Antigen activates B Cell Receptor (BCR) leading to generation of second messengers, organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, Fu et al. 1975, Kunkel e...
  • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
    Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
  • B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    B cell receptor signaling pathway, organism-specific biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • B cell receptor signaling pathway, conserved biosystem (from KEGG)
    B cell receptor signaling pathway, conserved biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    BCR signaling pathway, organism-specific biosystem
    BCR signaling pathway
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Class I PI3K signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Class I PI3K signaling events, organism-specific biosystem
    Class I PI3K signaling events
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with the TLR signaling cascade, organism-specific biosystem (from REACTOME)
    Diseases associated with the TLR signaling cascade, organism-specific biosystemToll like receptors (TLRs) are sensors of the innate immune system that detect danger signals derived from pathogens (pathogen-associated molecular patterns - PAMP) or damaged cells (damage-associate...
  • Diseases of Immune System, organism-specific biosystem (from REACTOME)
    Diseases of Immune System, organism-specific biosystemThe immune system is a complex network of the biological processes that provide defense mechanisms during infection or in response to an intrinsic danger signal. Compromised immune response may prese...
  • EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    EPO signaling pathway, organism-specific biosystem
    EPO signaling pathway
  • ER-Phagosome pathway, organism-specific biosystem (from REACTOME)
    ER-Phagosome pathway, organism-specific biosystemThe other TAP-dependent cross-presentation mechanism in phagocytes is the endoplasmic reticulum (ER)-phagosome model. Desjardins proposed that ER is recruited to the cell surface, where it fuses wit...
  • FAS (CD95) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    FAS (CD95) signaling pathway, organism-specific biosystem
    FAS (CD95) signaling pathway
  • FCERI mediated Ca+2 mobilization, organism-specific biosystem (from REACTOME)
    FCERI mediated Ca+2 mobilization, organism-specific biosystemIncrease of intracellular calcium in mast cells is most crucial for mast cell degranulation. Elevation of intracellular calcium is achieved by activation of PLC-gamma. Mast cells express both PLC-gam...
  • Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
    Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
  • Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
    Fc epsilon RI signaling pathway, conserved biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
    Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
    Fc-epsilon receptor I signaling in mast cells
  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • IL-5 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-5 Signaling Pathway, organism-specific biosystemInterleukin 5 (IL-5) ligand belongs to the cytokine superfamily. IL-5 is a glycoprotein which belongs to the cytokine superfamily. It possesses the four helical bundle motifs that is conserved among ...
  • IRAK4 deficiency (TLR2/4), organism-specific biosystem (from REACTOME)
    IRAK4 deficiency (TLR2/4), organism-specific biosystemInterleukin-1 receptor-associated kinase 4 (IRAK4) is a serine/threonine kinase, that mediates activation of transcriptional factors such as NFkB and AP1 downstream of IL-1 receptors and all toll lik...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Kit receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Kit receptor signaling pathway, organism-specific biosystemKit is a cytokine receptor that belongs to the type III receptor tyrosine kinase family. It is structurally similar to platelet-derived growth factor recpetors (PDGFRs), colony stimulating factor-1 r...
  • MyD88 deficiency (TLR2/4), organism-specific biosystem (from REACTOME)
    MyD88 deficiency (TLR2/4), organism-specific biosystemMyeloid differentiation primary response (MyD88) is an adaptor protein that mediates intracellular signaling pathways evoked by all Toll-like receptors (TLRs) except for TLR3 and by several interleuk...
  • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
    MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
  • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
    NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
    NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate WASPs and WAVEs, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate WASPs and WAVEs, organism-specific biosystemWASP and WAVE proteins belong to the Wiskott-Aldrich Syndrome protein family, with recessive mutations in the founding member WASP being responsible for the X-linked recessive immunodeficieny known a...
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway, organism-specific biosystem
    Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway
  • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
  • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
  • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
  • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
B cell receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Fc-epsilon 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
 
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adaptive immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 autophosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
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_000061.2NP_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, OTTHUMP00000023676, ENST00000308731.7, OTTHUMT00000057532
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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