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    BMX BMX non-receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 660, updated on 4-Nov-2018

    Summary

    Official Symbol
    BMXprovided by HGNC
    Official Full Name
    BMX non-receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1079
    See related
    Ensembl:ENSG00000102010 MIM:300101; Vega:OTTHUMG00000021180
    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
    ETK; PSCTK2; PSCTK3
    Summary
    This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
    Expression
    Broad expression in bone marrow (RPKM 2.4), placenta (RPKM 2.2) and 21 other tissues See more
    Orthologs

    Genomic context

    See BMX in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (15500777..15556529)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15482356..15574652)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene pirin Neighboring gene angiotensin I converting enzyme 2 Neighboring gene uncharacterized LOC104798195 Neighboring gene collectrin, amino acid transport regulator Neighboring gene prothymosin alpha pseudogene 14

    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?

    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

    • Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem
      Angiopoietin receptor Tie2-mediated signaling
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PI Metabolism, organism-specific biosystem (from REACTOME)
      PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    B 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 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidyl-tyrosine autophosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytoplasmic tyrosine-protein kinase BMX
    Names
    BTK-like on X chromosome
    Etk/Bmx cytosolic tyrosine kinase
    NTK38 tyrosine kinase
    bone marrow tyrosine kinase gene in chromosome X protein
    epithelial and endothelial tyrosine kinase
    NP_001307795.1
    NP_001712.1
    NP_975010.1
    XP_016885241.1

    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_013227.1 RefSeqGene

      Range
      5001..60753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320866.1NP_001307795.1  cytoplasmic tyrosine-protein kinase BMX isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site in the mid-coding region compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1.
      Source sequence(s)
      AF045459, BC016652, BP236451, X83107
      UniProtKB/Swiss-Prot
      P51813
      Conserved Domains (5) summary
      cd05113
      Location:411666
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10399
      Location:288393
      SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx
      cd01238
      Location:7147
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
      pfam00169
      Location:6111
      PH; PH domain
      pfam07714
      Location:416665
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001721.6NP_001712.1  cytoplasmic tyrosine-protein kinase BMX isoform 1

      See identical proteins and their annotated locations for NP_001712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF045459, BC016652, BQ226991
      Consensus CDS
      CCDS14168.1
      UniProtKB/Swiss-Prot
      P51813
      Related
      ENSP00000340082.6, OTTHUMP00000022964, ENST00000342014.6, OTTHUMT00000055873
      Conserved Domains (3) summary
      cd05113
      Location:412667
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10399
      Location:289394
      SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx
      cd01238
      Location:7147
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
    3. NM_203281.2NP_975010.1  cytoplasmic tyrosine-protein kinase BMX isoform 1

      See identical proteins and their annotated locations for NP_975010.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AF045459, BC016652, BP236451, X83107
      Consensus CDS
      CCDS14168.1
      UniProtKB/Swiss-Prot
      P51813
      Related
      ENSP00000308774.6, OTTHUMP00000022966, ENST00000348343.10, OTTHUMT00000055878
      Conserved Domains (3) summary
      cd05113
      Location:412667
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10399
      Location:289394
      SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx
      cd01238
      Location:7147
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) 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
      15500777..15556529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029752.2XP_016885241.1  cytoplasmic tyrosine-protein kinase BMX isoform X1

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