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

Gene ID: 660, updated on 17-Jun-2019

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
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (15500777..15556519)
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 Apr 4 07:08:55 2018

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_001320866.2NP_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_001721.7NP_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, ENST00000342014.6
    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_203281.3NP_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, ENST00000348343.11
    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

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
    15500777..15556519
    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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