Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2322
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FLT3   Gene   UCSC   Ensembl
Aliases CD135, FLK-2, FLK2, STK1
Gene name fms related tyrosine kinase 3
Alternate names receptor-type tyrosine-protein kinase FLT3, 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,
Gene location 13q12.2 (28100591: 28003273)     Exons: 27     NC_000013.11
Gene summary(Entrez) 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]
OMIM 136351

Protein Summary

Protein general information P36888  

Name: Receptor type tyrosine protein kinase FLT3 (EC 2.7.10.1) (FL cytokine receptor) (Fetal liver kinase 2) (FLK 2) (Fms like tyrosine kinase 3) (FLT 3) (Stem cell tyrosine kinase 1) (STK 1) (CD antigen CD135)

Length: 993  Mass: 112,903

Tissue specificity: Detected in bone marrow, in hematopoietic stem cells, in myeloid progenitor cells and in granulocyte/macrophage progenitor cells (at protein level). Detected in bone marrow, liver, thymus, spleen and lymph node, and at low levels in ki

Sequence MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESPEDLGCALRPQSSGTV
YEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDLQNRGVVSMVILKMTETQAGEYLLFIQSEAT
NYTILFTVSIRNTLLYTLRRPYFRKMENQDALVCISESVPEPIVEWVLCDSQGESCKEESPAVVKKEEKVLHELF
GTDIRCCARNELGRECTRLFTIDLNQTPQTTLPQLFLKVGEPLWIRCKAVHVNHGFGLTWELENKALEEGNYFEM
STYSTNRTMIRILFAFVSSVARNDTGYYTCSSSKHPSQSALVTIVEKGFINATNSSEDYEIDQYEEFCFSVRFKA
YPQIRCTWTFSRKSFPCEQKGLDNGYSISKFCNHKHQPGEYIFHAENDDAQFTKMFTLNIRRKPQVLAEASASQA
SCFSDGYPLPSWTWKKCSDKSPNCTEEITEGVWNRKANRKVFGQWVSSSTLNMSEAIKGFLVKCCAYNSLGTSCE
TILLNSPGPFPFIQDNISFYATIGVCLLFIVVLTLLICHKYKKQFRYESQLQMVQVTGSSDNEYFYVDFREYEYD
LKWEFPRENLEFGKVLGSGAFGKVMNATAYGISKTGVSIQVAVKMLKEKADSSEREALMSELKMMTQLGSHENIV
NLLGACTLSGPIYLIFEYCCYGDLLNYLRSKREKFHRTWTEIFKEHNFSFYPTFQSHPNSSMPGSREVQIHPDSD
QISGLHGNSFHSEDEIEYENQKRLEEEEDLNVLTFEDLLCFAYQVAKGMEFLEFKSCVHRDLAARNVLVTHGKVV
KICDFGLARDIMSDSNYVVRGNARLPVKWMAPESLFEGIYTIKSDVWSYGILLWEIFSLGVNPYPGIPVDANFYK
LIQNGFKMDQPFYATEEIYIIMQSCWAFDSRKRPSFPNLTSFLGCQLADAEEAMYQNVDGRVSECPHTYQNRRPF
SREMDLGLLSPQAQVEDS
Structural information
Protein Domains
Ig-like (253-343)
Protein (610-943)
Interpro:  IPR030118 IPR007110 IPR013783 IPR013151 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635 IPR001824
Prosite:   PS50835 PS00107 PS50011 PS00109 PS00240

Pfam:  
PF00047 PF07714

PDB:  
1RJB 3QS7 3QS9 4RT7 4XUF
PDBsum:   1RJB 3QS7 3QS9 4RT7 4XUF

DIP:  
59769
MINT:   7103562
STRING:   ENSP00000241453;
Other Databases GeneCards:  FLT3;  Malacards:  FLT3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001776 leukocyte homeostasis
ISS biological_process
GO:0002318 myeloid progenitor cell d
ifferentiation
ISS biological_process
GO:0002328 pro-B cell differentiatio
n
ISS biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0004896 cytokine receptor activit
y
ISS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005788 endoplasmic reticulum lum
en
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010243 response to organonitroge
n compound
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
TAS biological_process
GO:0019221 cytokine-mediated signali
ng pathway
ISS biological_process
GO:0030097 hemopoiesis
IDA biological_process
GO:0030183 B cell differentiation
ISS biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0035259 glucocorticoid receptor b
inding
IEA molecular_function
GO:0035726 common myeloid progenitor
cell proliferation
ISS biological_process
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0042531 positive regulation of ty
rosine phosphorylation of
STAT protein
TAS biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043234 protein complex
IEA cellular_component
GO:0043406 positive regulation of MA
P kinase activity
TAS biological_process
GO:0043410 positive regulation of MA
PK cascade
TAS biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
TAS biological_process
GO:0046651 lymphocyte proliferation
ISS biological_process
GO:0046777 protein autophosphorylati
on
TAS biological_process
GO:0071345 cellular response to cyto
kine stimulus
ISS biological_process
GO:0071345 cellular response to cyto
kine stimulus
TAS biological_process
GO:0071385 cellular response to gluc
ocorticoid stimulus
IEA biological_process
GO:0097028 dendritic cell differenti
ation
ISS biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001776 leukocyte homeostasis
ISS biological_process
GO:0002318 myeloid progenitor cell d
ifferentiation
ISS biological_process
GO:0002328 pro-B cell differentiatio
n
ISS biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0004896 cytokine receptor activit
y
ISS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005788 endoplasmic reticulum lum
en
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010243 response to organonitroge
n compound
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
TAS biological_process
GO:0019221 cytokine-mediated signali
ng pathway
ISS biological_process
GO:0030097 hemopoiesis
IEA biological_process
GO:0030097 hemopoiesis
IDA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030183 B cell differentiation
ISS biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0035259 glucocorticoid receptor b
inding
IEA molecular_function
GO:0035726 common myeloid progenitor
cell proliferation
ISS biological_process
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0042531 positive regulation of ty
rosine phosphorylation of
STAT protein
TAS biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043234 protein complex
IEA cellular_component
GO:0043406 positive regulation of MA
P kinase activity
TAS biological_process
GO:0043410 positive regulation of MA
PK cascade
TAS biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
TAS biological_process
GO:0046651 lymphocyte proliferation
ISS biological_process
GO:0046777 protein autophosphorylati
on
TAS biological_process
GO:0071345 cellular response to cyto
kine stimulus
ISS biological_process
GO:0071345 cellular response to cyto
kine stimulus
TAS biological_process
GO:0071385 cellular response to gluc
ocorticoid stimulus
IEA biological_process
GO:0097028 dendritic cell differenti
ation
ISS biological_process
GO:0001776 leukocyte homeostasis
ISS biological_process
GO:0002318 myeloid progenitor cell d
ifferentiation
ISS biological_process
GO:0002328 pro-B cell differentiatio
n
ISS biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0004896 cytokine receptor activit
y
ISS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
TAS biological_process
GO:0019221 cytokine-mediated signali
ng pathway
ISS biological_process
GO:0030097 hemopoiesis
IDA biological_process
GO:0030183 B cell differentiation
ISS biological_process
GO:0035726 common myeloid progenitor
cell proliferation
ISS biological_process
GO:0042531 positive regulation of ty
rosine phosphorylation of
STAT protein
TAS biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043406 positive regulation of MA
P kinase activity
TAS biological_process
GO:0043410 positive regulation of MA
PK cascade
TAS biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
TAS biological_process
GO:0046651 lymphocyte proliferation
ISS biological_process
GO:0046777 protein autophosphorylati
on
TAS biological_process
GO:0071345 cellular response to cyto
kine stimulus
ISS biological_process
GO:0071345 cellular response to cyto
kine stimulus
TAS biological_process
GO:0097028 dendritic cell differenti
ation
ISS biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa05202  Transcriptional misregulation in cancer
hsa04640  Hematopoietic cell lineage
hsa05230  Central carbon metabolism in cancer
hsa05221  Acute myeloid leukemia

Diseases

Associated diseases References
Acute myeloid leukemia KEGG: H00003
Cancer PMID: 20039765
Endometrial cancer PMID: 26626801
Endometriosis PMID: 27128987
Osteoporosis PMID: 17620055
Endometriosis INFBASE27128987

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
27128987 Endometrio
sis

94 (74 endometr
iosis patients
(stages I-II: 4
0; stages III-I
V: 34) , 20 wom
en without endo
metriosis)
Female infertility
Show abstract