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    FLT3 fms related tyrosine kinase 3 [ Homo sapiens (human) ]

    Gene ID: 2322, updated on 5-Nov-2016
    Official Symbol
    FLT3provided by HGNC
    Official Full Name
    fms related tyrosine kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:3765
    See related
    Ensembl:ENSG00000122025 HPRD:00635; MIM:136351; Vega:OTTHUMG00000016646
    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
    FLK2; STK1; CD135; FLK-2
    Summary
    This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
    Orthologs
    Location:
    13q12.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (28003274..28100592, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28577411..28682904, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370132 Neighboring gene RNA, 7SL, cytoplasmic 272, pseudogene Neighboring gene ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 1 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 Neighboring gene PAN3 antisense RNA 1 Neighboring gene PAN3 poly(A) specific ribonuclease subunit

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Acute lymphoid leukemia
    MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    • Acute myeloid leukemia, organism-specific biosystem (from KEGG)
      Acute myeloid leukemia, organism-specific biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
    • Acute myeloid leukemia, conserved biosystem (from KEGG)
      Acute myeloid leukemia, conserved biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
    • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
      Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
      Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • 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...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystem (from WikiPathways)
      Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystemThe Wnt/Beta-catenin pathway mediates the transcription of proteins important for maintenance and growth of hematopoietic stem cells. The inhibition of Wnt leads to protein degradation through Beta-C...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glucocorticoid receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular endothelial growth factor-activated receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cytokine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to cytokine stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    common myeloid progenitor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hemopoiesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    leukocyte homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lymphocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myeloid progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of MAP kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of MAPK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of STAT protein TAS
    Traceable Author Statement
    more info
    PubMed 
    pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    response to organonitrogen compound IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular endothelial growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    receptor-type tyrosine-protein kinase FLT3
    Names
    CD135 antigen
    FL cytokine receptor
    fetal liver kinase 2
    fms-like tyrosine kinase 3
    growth factor receptor tyrosine kinase type III
    stem cell tyrosine kinase 1
    NP_004110.2

    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_007066.1 RefSeqGene

      Range
      4977..102295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_457

    mRNA and Protein(s)

    1. NM_004119.2NP_004110.2  receptor-type tyrosine-protein kinase FLT3 precursor

      See identical proteins and their annotated locations for NP_004110.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      AL356915, AL591024, AW057705, BI461248, U02687, Z26652
      Consensus CDS
      CCDS31953.1
      UniProtKB/Swiss-Prot
      P36888
      Related
      ENSP00000241453, OTTHUMP00000018181, ENST00000241453, OTTHUMT00000044319
      Conserved Domains (3) summary
      pfam00047
      Location:256345
      ig; Immunoglobulin domain
      pfam07714
      Location:610943
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:572947
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. NR_130706.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL356915, AL445262, AW057705, AW772610, BC036028
      Related
      ENST00000380987, OTTHUMT00000354576

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      28003274..28100592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020486.1XP_016875975.1  

    2. XM_017020489.1XP_016875978.1  

    3. XM_017020487.1XP_016875976.1  

      Conserved Domains (3) summary
      pfam00047
      Location:81170
      ig; Immunoglobulin domain
      pfam07714
      Location:435768
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:397772
      PKc_like; Protein Kinases, catalytic domain
    4. XM_017020488.1XP_016875977.1  

    5. XM_011535015.2XP_011533317.1  

      Conserved Domains (3) summary
      pfam00047
      Location:237326
      ig; Immunoglobulin domain
      pfam07714
      Location:591924
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:553928
      PKc_like; Protein Kinases, catalytic domain
    6. XM_011535017.2XP_011533319.1  

      See identical proteins and their annotated locations for XP_011533319.1

      Conserved Domains (3) summary
      pfam00047
      Location:81170
      ig; Immunoglobulin domain
      pfam07714
      Location:435768
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:397772
      PKc_like; Protein Kinases, catalytic domain
    7. XM_011535018.2XP_011533320.1  

      See identical proteins and their annotated locations for XP_011533320.1

      Conserved Domains (3) summary
      pfam00047
      Location:81170
      ig; Immunoglobulin domain
      pfam07714
      Location:435768
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:397772
      PKc_like; Protein Kinases, catalytic domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      28546018..28643312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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