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A repository for genes associated with endometriosis

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Gene id 2321
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FLT1   Gene   UCSC   Ensembl
Aliases FLT, FLT-1, VEGFR-1, VEGFR1
Gene name fms related tyrosine kinase 1
Alternate names vascular endothelial growth factor receptor 1, fms-like tyrosine kinase 1, fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor), tyrosine-protein kinase FRT, tyrosine-protein kinase receptor FLT, vascular per,
Gene location 13q12.3 (28495127: 28300345)     Exons: 33     NC_000013.11
Gene summary(Entrez) This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
OMIM 165070

SNPs

rs9582036

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000675.2   g.28311271C>A
NC_000013.10   g.28885408C>A
NC_000013.11   g.28311271C>A
NG_012003.1   g.188858G>T
NM_002019.4   c.3635+319G>T

Protein Summary

Protein general information P17948  

Name: Vascular endothelial growth factor receptor 1 (VEGFR 1) (EC 2.7.10.1) (Fms like tyrosine kinase 1) (FLT 1) (Tyrosine protein kinase FRT) (Tyrosine protein kinase receptor FLT) (FLT) (Vascular permeability factor receptor)

Length: 1338  Mass: 150,769

Tissue specificity: Detected in normal lung, but also in placenta, liver, kidney, heart and brain tissues. Specifically expressed in most of the vascular endothelial cells, and also expressed in peripheral blood monocytes. Isoform 2 is strongly expressed

Sequence MVSYWDTGVLLCALLSCLLLTGSSSGSKLKDPELSLKGTQHIMQAGQTLHLQCRGEAAHKWSLPEMVSKESERLS
ITKSACGRNGKQFCSTLTLNTAQANHTGFYSCKYLAVPTSKKKETESAIYIFISDTGRPFVEMYSEIPEIIHMTE
GRELVIPCRVTSPNITVTLKKFPLDTLIPDGKRIIWDSRKGFIISNATYKEIGLLTCEATVNGHLYKTNYLTHRQ
TNTIIDVQISTPRPVKLLRGHTLVLNCTATTPLNTRVQMTWSYPDEKNKRASVRRRIDQSNSHANIFYSVLTIDK
MQNKDKGLYTCRVRSGPSFKSVNTSVHIYDKAFITVKHRKQQVLETVAGKRSYRLSMKVKAFPSPEVVWLKDGLP
ATEKSARYLTRGYSLIIKDVTEEDAGNYTILLSIKQSNVFKNLTATLIVNVKPQIYEKAVSSFPDPALYPLGSRQ
ILTCTAYGIPQPTIKWFWHPCNHNHSEARCDFCSNNEESFILDADSNMGNRIESITQRMAIIEGKNKMASTLVVA
DSRISGIYICIASNKVGTVGRNISFYITDVPNGFHVNLEKMPTEGEDLKLSCTVNKFLYRDVTWILLRTVNNRTM
HYSISKQKMAITKEHSITLNLTIMNVSLQDSGTYACRARNVYTGEEILQKKEITIRDQEAPYLLRNLSDHTVAIS
SSTTLDCHANGVPEPQITWFKNNHKIQQEPGIILGPGSSTLFIERVTEEDEGVYHCKATNQKGSVESSAYLTVQG
TSDKSNLELITLTCTCVAATLFWLLLTLFIRKMKRSSSEIKTDYLSIIMDPDEVPLDEQCERLPYDASKWEFARE
RLKLGKSLGRGAFGKVVQASAFGIKKSPTCRTVAVKMLKEGATASEYKALMTELKILTHIGHHLNVVNLLGACTK
QGGPLMVIVEYCKYGNLSNYLKSKRDLFFLNKDAALHMEPKKEKMEPGLEQGKKPRLDSVTSSESFASSGFQEDK
SLSDVEEEEDSDGFYKEPITMEDLISYSFQVARGMEFLSSRKCIHRDLAARNILLSENNVVKICDFGLARDIYKN
PDYVRKGDTRLPLKWMAPESIFDKIYSTKSDVWSYGVLLWEIFSLGGSPYPGVQMDEDFCSRLREGMRMRAPEYS
TPEIYQIMLDCWHRDPKERPRFAELVEKLGDLLQANVQQDGKDYIPINAILTGNSGFTYSTPAFSEDFFKESISA
PKFNSGSSDDVRYVNAFKFMSLERIKTFEELLPNATSMFDDYQGDSSTLLASPMLKRFTWTDSKPKASLKIDLRV
TSKSKESGLSDVSRPSFCHSSCGHVSEGKRRFTYDHAELERKIACCSPPPDYNSVVLYSTPPI
Structural information
Protein Domains
Ig-like (32-123)
Ig-like (151-214)
Ig-like (230-327)
Ig-like (335-421)
Ig-like (428-553)
Ig-like (556-654)
Ig-like (661-747)
(827-)
Interpro:  IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR013106 IPR013151 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635 IPR001824 IPR009135
Prosite:   PS50835 PS00107 PS50011 PS00109 PS00240

Pfam:  
PF07679 PF00047 PF07714

PDB:  
1FLT 1QSV 1QSZ 1QTY 1RV6 2XAC 3HNG 4CKV 4CL7 5ABD 5EX3 5T89
PDBsum:   1FLT 1QSV 1QSZ 1QTY 1RV6 2XAC 3HNG 4CKV 4CL7 5ABD 5EX3 5T89

DIP:  
643
MINT:   127610
STRING:   ENSP00000282397;
Other Databases GeneCards:  FLT1;  Malacards:  FLT1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000186 activation of MAPKK activ
ity
IEA biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0002548 monocyte chemotaxis
IDA biological_process
GO:0002548 monocyte chemotaxis
IDA biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA 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: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: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:0005615 extracellular space
TAS cellular_component
GO:0005768 endosome
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
IDA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006940 regulation of smooth musc
le contraction
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:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
IMP biological_process
GO:0016477 cell migration
IMP biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0030154 cell differentiation
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030522 intracellular receptor si
gnaling pathway
IEA biological_process
GO:0030949 positive regulation of va
scular endothelial growth
factor receptor signalin
g pathway
IDA biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0036323 vascular endothelial grow
th factor receptor-1 sign
aling pathway
IDA biological_process
GO:0036326 VEGF-A-activated receptor
activity
IDA molecular_function
GO:0036327 VEGF-B-activated receptor
activity
IDA molecular_function
GO:0036332 placental growth factor-a
ctivated receptor activit
y
IDA molecular_function
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
IDA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0048598 embryonic morphogenesis
ISS biological_process
GO:0048661 positive regulation of sm
ooth muscle cell prolifer
ation
IEA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000186 activation of MAPKK activ
ity
IEA biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0002548 monocyte chemotaxis
IDA biological_process
GO:0002548 monocyte chemotaxis
IDA 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
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IEA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IEA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA 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: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: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:0005524 ATP binding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
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
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006935 chemotaxis
IEA biological_process
GO:0006940 regulation of smooth musc
le contraction
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:0007275 multicellular organism de
velopment
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
IMP biological_process
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:0016477 cell migration
IMP biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IEA molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0030154 cell differentiation
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030522 intracellular receptor si
gnaling pathway
IEA biological_process
GO:0030949 positive regulation of va
scular endothelial growth
factor receptor signalin
g pathway
IDA biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0036323 vascular endothelial grow
th factor receptor-1 sign
aling pathway
IDA biological_process
GO:0036326 VEGF-A-activated receptor
activity
IDA molecular_function
GO:0036327 VEGF-B-activated receptor
activity
IDA molecular_function
GO:0036332 placental growth factor-a
ctivated receptor activit
y
IDA molecular_function
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
IDA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IEA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0048598 embryonic morphogenesis
ISS biological_process
GO:0048661 positive regulation of sm
ooth muscle cell prolifer
ation
IEA biological_process
GO:0002548 monocyte chemotaxis
IDA biological_process
GO:0002548 monocyte chemotaxis
IDA biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA 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: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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA 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:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
IMP biological_process
GO:0016477 cell migration
IMP biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030949 positive regulation of va
scular endothelial growth
factor receptor signalin
g pathway
IDA biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0036323 vascular endothelial grow
th factor receptor-1 sign
aling pathway
IDA biological_process
GO:0036326 VEGF-A-activated receptor
activity
IDA molecular_function
GO:0036327 VEGF-B-activated receptor
activity
IDA molecular_function
GO:0036332 placental growth factor-a
ctivated receptor activit
y
IDA molecular_function
GO:0043235 receptor complex
IDA cellular_component
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
IDA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0048598 embryonic morphogenesis
ISS biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04510  Focal adhesion
hsa05202  Transcriptional misregulation in cancer
hsa04144  Endocytosis
hsa04066  HIF-1 signaling pathway
hsa05323  Rheumatoid arthritis

Diseases

Associated diseases References
Cancer PMID: 18636124
Endometrial cancer PMID: 10831352
Endometriosis PMID: 21733043
Hydrosalpinx PMID: 14585871
Hypertensive pregnancy disorders PMID: 23957293
Intrauterine growth retardation PMID: 19658040
Male infertility PMID: 10438994
Mullerian anomaly PMID: 19200976
Neovascularization PMID: 18975312
Polycystic ovary syndrome (PCOS) PMID: 19330612
Preeclampsia PMID: 18631405
Preeclampsia PMID: 26116870
Pregnancy loss PMID: 18779584
Tubal infertility INFBASE21733043
Endometriosis INFBASE16179118
Sarcoidosis PMID: 19741061
Unexplained infertility PMID: 18607827
Uterine anomalies PMID: 19200976

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16179118 Endometrio
sis

157 (37 specime
ns of entopic e
ndometrium, 34
specimens of ov
arian chocolate
cyst, 34 speci
mens of ovarian
chocolate cyst
, 15 specimens
of red peritone
al endometriosi
s lesions, 4 ab
dominal wall en
dometriosis les
ions, 33 patien
ts with other g
ynecological di

Show abstract
22230112 Endometrio
sis


FLT1
VEGF
Show abstract
21733043 Endometrio
sis

40 (20 women wi
th endometriosi
s III or IV, 20
with tubal inf
ertility only (
control group)
)

Show abstract