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

Gene ID: 2322, updated on 7-Feb-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
See FLT3 in Epigenomics, MapViewer
Location:
13q12
Exon count:
27
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105370131 Neighboring gene ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase Neighboring gene katanin p80 subunit B-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
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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-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 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...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • 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
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
 
phosphatidylinositol 3-kinase 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
 
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 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
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
 
negative regulation of B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
organ regeneration IEA
Inferred from Electronic Annotation
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 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
pro-T cell differentiation IEA
Inferred from Electronic Annotation
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
 
spleen development 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 TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane 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
 
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
fms-related 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:265331
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011535015.1XP_011533317.1  

    Conserved Domains (3) summary
    pfam00047
    Location:246312
    ig; Immunoglobulin domain
    pfam07714
    Location:591924
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:553928
    PKc_like; Protein Kinases, catalytic domain
  2. XM_011535018.1XP_011533320.1  

    See identical proteins and their annotated locations for XP_011533320.1

    Conserved Domains (3) summary
    pfam00047
    Location:90156
    ig; Immunoglobulin domain
    pfam07714
    Location:435768
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:397772
    PKc_like; Protein Kinases, catalytic domain
  3. XM_011535017.1XP_011533319.1  

    See identical proteins and their annotated locations for XP_011533319.1

    Conserved Domains (3) summary
    pfam00047
    Location:90156
    ig; Immunoglobulin domain
    pfam07714
    Location:435768
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:397772
    PKc_like; Protein Kinases, catalytic domain
  4. XM_011535016.1XP_011533318.1  

    See identical proteins and their annotated locations for XP_011533318.1

    Conserved Domains (3) summary
    pfam00047
    Location:90156
    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)