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

    Gene ID: 2322, updated on 13-May-2024

    Summary

    Official Symbol
    FLT3provided by HGNC
    Official Full Name
    fms related receptor tyrosine kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:3765
    See related
    Ensembl:ENSG00000122025 MIM:136351; AllianceGenome:HGNC:3765
    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]
    Expression
    Broad expression in spleen (RPKM 4.2), lymph node (RPKM 3.7) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    Location:
    13q12.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (28003274..28100576, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (27225623..27323127, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28577411..28674713, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:28552766-28553299 Neighboring gene uncharacterized LOC105370132 Neighboring gene RNA, 7SL, cytoplasmic 272, pseudogene Neighboring gene ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28596542-28597075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28597076-28597608 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:28624211-28624978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28625785-28626285 Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7510 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5210 Neighboring gene PAN3 antisense RNA 1 Neighboring gene poly(A) specific ribonuclease subunit PAN3

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytokine receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nuclear glucocorticoid receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol 3-kinase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables vascular endothelial growth factor receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to cytokine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to cytokine stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in common myeloid progenitor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within hemopoiesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukocyte homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lymphocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in myeloid progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to organonitrogen compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    receptor-type tyrosine-protein kinase FLT3
    Names
    CD135 antigen
    FL cytokine receptor
    fetal liver kinase 2
    fms related tyrosine kinase 3
    fms-like tyrosine kinase 3
    growth factor receptor tyrosine kinase type III
    stem cell tyrosine kinase 1
    NP_004110.2
    XP_011533317.1
    XP_011533320.1
    XP_016875975.1
    XP_016875977.1
    XP_047286172.1
    XP_054230287.1
    XP_054230288.1
    XP_054230289.1
    XP_054230290.1
    XP_054230291.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004119.3NP_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
      A0AVG9, B7ZLT7, B7ZLT8, F5H0A0, P36888, Q13414
      Related
      ENSP00000241453.7, ENST00000241453.12
      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_130706.2 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
      ENST00000380987.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      28003274..28100576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020486.2XP_016875975.1  receptor-type tyrosine-protein kinase FLT3 isoform X4

    2. XM_011535015.3XP_011533317.1  receptor-type tyrosine-protein kinase FLT3 isoform X1

      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
    3. XM_011535018.3XP_011533320.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

      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
    4. XM_017020488.2XP_016875977.1  receptor-type tyrosine-protein kinase FLT3 isoform X3

    5. XM_047430216.1XP_047286172.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      27225623..27323127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374312.1XP_054230287.1  receptor-type tyrosine-protein kinase FLT3 isoform X1

    2. XM_054374314.1XP_054230289.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

    3. XM_054374315.1XP_054230290.1  receptor-type tyrosine-protein kinase FLT3 isoform X5

    4. XM_054374313.1XP_054230288.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

    5. XM_054374316.1XP_054230291.1  receptor-type tyrosine-protein kinase FLT3 isoform X3