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

Gene ID: 2322, updated on 11-Sep-2019

Summary

Official Symbol
FLT3provided by HGNC
Official Full Name
fms related tyrosine kinase 3provided by HGNC
Primary source
HGNC:HGNC:3765
See related
Ensembl:ENSG00000122025 MIM:136351
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

Genomic context

See FLT3 in Genome Data Viewer
Location:
13q12.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (28003274..28100587, 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 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?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...

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
 
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 homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
protein self-association IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
MAPK cascade TAS
Traceable Author Statement
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
dendritic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
hematopoietic progenitor cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukocyte homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
lymphocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAP kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vascular endothelial growth factor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
XP_011533317.1
XP_011533319.1
XP_011533320.1
XP_016875975.1
XP_016875976.1
XP_016875977.1
XP_016875978.1

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_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
    P36888
    Related
    ENSP00000241453.7, ENST00000241453.11
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    28003274..28100587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020486.1XP_016875975.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

  2. XM_017020489.1XP_016875978.1  receptor-type tyrosine-protein kinase FLT3 isoform X5

  3. XM_017020487.1XP_016875976.1  receptor-type tyrosine-protein kinase FLT3 isoform X3

    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  receptor-type tyrosine-protein kinase FLT3 isoform X4

  5. XM_011535015.2XP_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
  6. XM_011535017.2XP_011533319.1  receptor-type tyrosine-protein kinase FLT3 isoform X3

    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  receptor-type tyrosine-protein kinase FLT3 isoform X3

    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
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