Human Gene BMX (ENST00000348343.11) from GENCODE V39
  Description: Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. (from RefSeq NM_203281)
RefSeq Summary (NM_203281): 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].
Gencode Transcript: ENST00000348343.11
Gencode Gene: ENSG00000102010.15
Transcript (Including UTRs)
   Position: hg38 chrX:15,500,807-15,556,519 Size: 55,713 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chrX:15,508,354-15,556,147 Size: 47,794 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2022-01-17 17:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:15,500,807-15,556,519)mRNA (may differ from genome)Protein (675 aa)
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-  Comments and Description Text from UniProtKB
  ID: BMX_HUMAN
DESCRIPTION: RecName: Full=Cytoplasmic tyrosine-protein kinase BMX; EC=2.7.10.2; AltName: Full=Bone marrow tyrosine kinase gene in chromosome X protein; AltName: Full=Epithelial and endothelial tyrosine kinase; Short=ETK; AltName: Full=NTK38;
FUNCTION: Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Plays also a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
ENZYME REGULATION: TEK and vascular endothelial growth factor receptor 1 (FLT1) stimulate BMX tyrosine kinase activity (By similarity). Activated by integrins through the mediation of PTK2/FAK1. Activated by TNF through the mediation of TNFRSF1B.
SUBUNIT: Interacts with BCAR1, CAV1, MYD88, PTK2/FAK1, RUFY1, RUFY2, STAT3, TIRAP and TNFRSF1B.
INTERACTION: P11309:PIM1; NbExp=8; IntAct=EBI-696657, EBI-696621;
SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes to the edges of spreading cells when complexed with BCAR1.
TISSUE SPECIFICITY: Highly expressed in cells with great migratory potential, including endothelial cells and metastatic carcinoma cell lines.
INDUCTION: Activated by IL6/interleukin-6 through phosphatidylinositol 3-kinase (PI3-kinase) pathway. It is likely that activation occurs through binding of phosphoinositides to the PH domain.
DOMAIN: SH2 domain mediates interaction with RUFY1.
PTM: Phosphorylated in response to protein I/II and to LPS. Phosphorylation at Tyr-566 by SRC and by autocatalysis leads to activation and is required for STAT3 phosphorylation by BMX.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
SIMILARITY: Contains 1 Btk-type zinc finger.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 SH2 domain.
SEQUENCE CAUTION: Sequence=AAC08966.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  MalaCards Disease Associations
  MalaCards Gene Search: BMX
Diseases sorted by gene-association score: ariboflavinosis (1), prostate cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.86 RPKM in Whole Blood
Total median expression: 63.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.70143-0.264 Picture PostScript Text
3' UTR -75.50372-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR000980 - SH2
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR001562 - Znf_Btk_motif

Pfam Domains:
PF00779 - BTK motif
PF00169 - PH domain
PF07714 - Protein tyrosine kinase
PF00017 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EKX - NMR MuPIT 2YS2 - NMR MuPIT 3SXR - X-ray MuPIT 3SXS - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P51813
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0005102 receptor binding

Biological Process:
GO:0001865 NK T cell differentiation
GO:0006468 protein phosphorylation
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006915 apoptotic process
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007498 mesoderm development
GO:0016310 phosphorylation
GO:0035556 intracellular signal transduction
GO:0038083 peptidyl-tyrosine autophosphorylation
GO:0042127 regulation of cell proliferation
GO:0045087 innate immune response
GO:0046777 protein autophosphorylation

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0032587 ruffle membrane


-  Descriptions from all associated GenBank mRNAs
  AF045459 - Homo sapiens Etk/Bmx cytosolic tyrosine kinase mRNA, complete cds.
LP895635 - Sequence 499 from Patent EP3253886.
LP896561 - Sequence 1425 from Patent EP3253886.
AK291824 - Homo sapiens cDNA FLJ78081 complete cds, highly similar to Homo sapiens BMX non-receptor tyrosine kinase (BMX), mRNA.
AK313568 - Homo sapiens cDNA, FLJ94132, highly similar to Homo sapiens BMX non-receptor tyrosine kinase (BMX), mRNA.
X83107 - H.sapiens Bmx mRNA for cytoplasmic tyrosine kinase.
BC016652 - Homo sapiens BMX non-receptor tyrosine kinase, mRNA (cDNA clone MGC:9071 IMAGE:3919253), complete cds.
AB528409 - Synthetic construct DNA, clone: pF1KB9950, Homo sapiens BMX gene for BMX non-receptor tyrosine kinase, without stop codon, in Flexi system.
DQ891059 - Synthetic construct clone IMAGE:100003689; FLH168918.01X; RZPDo839E0794D BMX non-receptor tyrosine kinase (BMX) gene, encodes complete protein.
DQ896814 - Synthetic construct Homo sapiens clone IMAGE:100011274; FLH168914.01L; RZPDo839E0793D BMX non-receptor tyrosine kinase (BMX) gene, encodes complete protein.
KJ896506 - Synthetic construct Homo sapiens clone ccsbBroadEn_05900 BMX gene, encodes complete protein.
U08341 - Human clone NTK38 tyrosine kinase mRNA, partial cds.
JD267236 - Sequence 248260 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P51813 (Reactome details) participates in the following event(s):

R-HSA-351849 Caspase-mediated cleavage of Etk
R-HSA-8871373 BMX phosphorylates RUFY1
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-75153 Apoptotic execution phase
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-109581 Apoptosis
R-HSA-1483255 PI Metabolism
R-HSA-5357801 Programmed Cell Death
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6NIH9, BMX_HUMAN, ENST00000348343.1, ENST00000348343.10, ENST00000348343.2, ENST00000348343.3, ENST00000348343.4, ENST00000348343.5, ENST00000348343.6, ENST00000348343.7, ENST00000348343.8, ENST00000348343.9, NM_203281, O60564, P51813, Q12871, uc004cwx.1, uc004cwx.2, uc004cwx.3, uc004cwx.4, uc004cwx.5, uc004cwx.6
UCSC ID: ENST00000348343.11
RefSeq Accession: NM_203281
Protein: P51813 (aka BMX_HUMAN)
CCDS: CCDS14168.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.