Fragile X syndrome (Homo sapiens)

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1242935356, 35427441222, 307321930434301212627312611256, 2122177144221916327253212273427269215154, 20242710152mGluR-LTDNMDA-LTDClathrin-mediated endocytosis of AMPARTrkB ReceptorNMDA ReceptoroveractivationPKA1AMPAR internalizationeIF4F complexAP-2TSC complex deletionAMPA Receptornucleusloss of FMR1 gene productAMPA Receptor Poolrelease of Ca2+overexpressionupregulationClathrinRISC Complex1Group I mGluR27mTORC18GDPGRIP1CAMK2BEIF4G1AGO2DLG4GRIP2BDNFGRIA1PRKCAAP2S1glutamateANAPC2GAB1SLC16A1SLC6A1CDH1ITPR1CPT1AmiR-125bPLCG1SHC1cAMPPRKACAGAD1Ubiquination Signaling PathwayCDC6PTPN5GRIA2Dynamin-1CREB1SYNGAP1PICK1GRIN2BPP1CLTACLTBABATStalled PolyribosomesPLCB1ALDH5A1NTRK2AP2M1MEK-ERK-Mnk1 PathwayglutamateGABRG2PTPN11GAD1PRKACAPTPN5CAMK1ANAPC13AP2A1CREB1GPHNCAMKIV-CREB PathwayGRIA1CDC26ARHGAP32DLG4PI3K-Akt-mTOR PathwayANAPC5CLTCL1ANAPC16CAMK4CalcineurinGRIA2PIP2AP2B1DAG1GABRB2CLTCGRB2DICER1GABRA11367SHANK1DLG4DLGAP3MAP2K2FMR16MAP1BARCMKNK1RPS6KB1MAP1B6MAPK1KRASCYFIP128AKT1S1ARC23MAP2K1CAMK2ASOS131PPP2R5BEIF4EBP2RAF1NF133EIF4ECAMK2AFMR1DEPTORTELO2RPTORMLST8MTORPIK3CBTTI1GRM5RHEBHOMER1GRM1PDK1AGAP2PIP2PTENTSC1AKT1PIP3TSC2TBC1D7RHEBGTPP at Ser500KRASGDPGTPPPPPPDLGAP3SHANK1GRIN2BGRIN2BGABRA1GABRB2GABRG2GPHNSLC6A1ABATALDH5A1ALDH3A2ABCD3TECRCPT1ASLC16A1ALDH3A2ABCD3TECRPPRKAR1APRKAR1APFMR1Influx Ca2+GRIA1GRIA2AMPA ReceptorPGRIA2GRIA118PGRIA1GRIA2miR-132miR-196aSH3GL1DNM221213P1P at Thr308ANAPC13ANAPC7SNAPC3CDC23ANAPC15ANAPC1ANAPC4ANAPC11ANAPC10EIF4A1TARBP2EIF4EBP214MECP2EPHA4GRIN2ACDKN2AHOXB8MAP2K2MAP2K1MAPK1MKNK1BRAFARAFPSH3GL3mGluR-LTPNMDA-LTPAMPA ReceptorAMPAR insertion


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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134295view05:59, 20 July 2024EgonwRemoved a template comment
127643view19:49, 13 November 2023Khanspersremoved one final it ref for protein database
127642view19:44, 13 November 2023Khanspersremoved literature references to protein/gene databases
127609view14:38, 7 November 2023LarsgwRemove tab character from bp:DB
125304view17:46, 31 January 2023LarsgwFix PMID in reference
124287view13:32, 9 October 2022EgonwModern Uniprot data source
124286view10:37, 9 October 2022VanessaSousa
124285view10:34, 9 October 2022VanessaSousa
123421view06:15, 26 July 2022EgonwMade two pathways clickable
119333view08:04, 24 June 2021FinterlyFixed Biopax PublicationXrefs with missing ID, and removed duplicates
118442view14:46, 27 May 2021Mkutmonfix publication refs
117111view21:38, 17 May 2021EweitzModified title
108088view11:54, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
104796view08:08, 18 June 2019FehrhartConnected unconnected lines
104314view12:15, 16 May 2019MkassChanged direction of arrows from Kras-GTP to Kras-GDP (they were pointed at the wrong direction)
104286view12:39, 15 May 2019FehrhartOntology Term : 'autism spectrum disorder' added !
104285view12:38, 15 May 2019FehrhartOntology Term : 'brain disease pathway' added !
104284view12:37, 15 May 2019FehrhartOntology Term : 'neuron' added !
104037view18:35, 25 April 2019MkassChanged mim conversion arrows from FMR1 to phosphorylated FMR1 because they pointed at the wrong direction
103984view12:12, 23 April 2019MkassChanged location of 'mGluR-LTP --> Amygdala'
103983view09:39, 23 April 2019MkassAddition of MIM inhibition from stalled polyribosomes to target mRNA
103982view09:15, 23 April 2019MkassAdded MIM stimulation (in blue) from FMR1 to GABA mRNAs
103972view12:21, 18 April 2019MkassAdded grey backgroud to AMPAR
103971view12:17, 18 April 2019MkassAdded some annotations on how NMDAR, TrkB and cAMP are affected in FXS
103970view11:16, 18 April 2019MkassRestructuring of the pathway to have a better overview
103892view12:48, 14 April 2019Mkass
103823view13:35, 9 April 2019Mkassupdated legend
103822view13:30, 9 April 2019Mkass
103817view09:57, 9 April 2019Mkass
103814view09:09, 9 April 2019MkassFixed unconnected interactions
103804view19:04, 8 April 2019MkassModified description
103803view18:36, 8 April 2019MkassModified description
103802view18:32, 8 April 2019Mkass
103780view18:11, 5 April 2019Mkass
103776view15:01, 5 April 2019Mkass
103775view10:52, 5 April 2019Mkass
103774view09:23, 5 April 2019Mkass
103773view08:17, 5 April 2019Mkass
103772view07:54, 5 April 2019EgonwFixed a Pubmed identifier.
103762view09:49, 4 April 2019Mkass
103735view13:38, 2 April 2019Mkass
103734view10:15, 1 April 2019Mkass
103733view10:04, 1 April 2019Mkass
103732view09:12, 1 April 2019Mkass
103731view21:11, 31 March 2019Mkass
103730view20:40, 31 March 2019AndraOntology Term : 'fragile X syndrome' added !
103726view10:56, 31 March 2019Mkass
103685view12:39, 28 March 2019Mkass
103684view12:27, 28 March 2019Mkass
103683view11:20, 28 March 2019Mkass

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ABATRnaENSG00000183044 (Ensembl)
ABCD3GeneProductENSG00000117528 (Ensembl)
AGAP2GeneProductENSG00000135439 (Ensembl)
AGO2GeneProductENSG00000123908 (Ensembl)
AKT1GeneProductENSG00000142208 (Ensembl)
AKT1S1GeneProductENSG00000204673 (Ensembl)
ALDH3A2GeneProductENSG00000072210 (Ensembl)
ALDH5A1RnaENSG00000112294 (Ensembl)
ANAPC10GeneProductENSG00000164162 (Ensembl)
ANAPC11GeneProductENSG00000141552 (Ensembl)
ANAPC13GeneProductENSG00000129055 (Ensembl)
ANAPC15GeneProductENSG00000110200 (Ensembl)
ANAPC16GeneProductENSG00000166295 (Ensembl)
ANAPC1GeneProductENSG00000153107 (Ensembl)
ANAPC2GeneProductENSG00000176248 (Ensembl)
ANAPC4GeneProductENSG00000053900 (Ensembl)
ANAPC5GeneProductENSG00000089053 (Ensembl)
ANAPC7GeneProductENSG00000196510 (Ensembl)
AP2A1GeneProductENSG00000196961 (Ensembl)
AP2B1GeneProductENSG00000006125 (Ensembl)
AP2M1GeneProductENSG00000161203 (Ensembl)
AP2S1GeneProductENSG00000042753 (Ensembl)
ARAFGeneProductENSG00000078061 (Ensembl)
ARCGeneProductENSG00000198576 (Ensembl Human) Activity-regulated cytoskeleton-associated protein (ARC) is a key regulator of synaptic plasticity. It is required for protein synthesis-dependent LTP and LTD as well as for the formation of long-term memory. ARC regulates synaptic plasticity by promoting endocytosis of AMPA receptors AMPAR and thus, LTD.
ARHGAP32GeneProductENSG00000134909 (Ensembl)
BDNFGeneProductENSG00000176697 (Ensembl)
BRAFGeneProductENSG00000157764 (Ensembl)
CAMK1GeneProductENSG00000134072 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
CAMK2BGeneProductENSG00000058404 (Ensembl) CAMKII catalyzes the phosphorylation of AMPAR an
CAMK4GeneProductENSG00000152495 (Ensembl)
CAMKIV-CREB PathwayPathway
CDC23GeneProductENSG00000094880 (Ensembl)
CDC26GeneProductENSG00000176386 (Ensembl)
CDC6GeneProductENSG00000094804 (Ensembl)
CDH1GeneProductENSG00000039068 (Ensembl)
CDKN2AGeneProductENSG00000147889 (Ensembl)
CLTAGeneProductENSG00000122705 (Ensembl)
CLTBGeneProductENSG00000175416 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
CPT1AGeneProductENSG00000110090 (Ensembl)
CREB1GeneProductENSG00000118260 (Ensembl)
CYFIP1GeneProductENSG00000273749 (Ensembl) CYFIP1 interacts with FMRP and with translation initiation factor eIF4E
CalcineurinProtein
DAG1GeneProductENSG00000173402 (Ensembl)
DEPTORGeneProductENSG00000155792 (Ensembl)
DICER1GeneProductENSG00000100697 (Ensembl) DICER, is an endonuclease, which cleaves double stranded RNA (dsRNA) into short single stranded RNA called miRNA and tehreby faciliates the activation of RISC
DLG4RnaENSG00000132535 (Ensembl)
DLGAP3GeneProductENSG00000116544 (Ensembl)
DNM2GeneProductENSG00000079805 (Ensembl) Dynamin is a large GTPase modulating release of endosomes from the membrane by pinching off and fissioning the membrane.
Dynamin-1ProteinA0A0D9SFB1 (Uniprot-TrEMBL)
EIF4A1GeneProductENSG00000161960 (Ensembl)
EIF4EBP2GeneProductENSG00000148730 (Ensembl) Phosphorylates 4E-BP cannot bind to eIF4E anymore, this means that its inhibitory effect on translation is repressed
EIF4EGeneProductENSG00000151247 (Ensembl)
EIF4G1GeneProductENSG00000114867 (Ensembl)
EPHA4GeneProductENSG00000116106 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
GAB1GeneProductENSG00000109458 (Ensembl)
GABRA1RnaENSG00000022355 (Ensembl)
GABRB2RnaENSG00000145864 (Ensembl)
GABRG2RnaENSG00000113327 (Ensembl)
GAD1GeneProductENSG00000128683 (Ensembl)
GPHNRnaENSG00000171723 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIA1GeneProductENSG00000155511 (Ensembl)
GRIA2GeneProductENSG00000120251 (Ensembl)
GRIN2AGeneProductENSG00000183454 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRIP1GeneProductENSG00000155974 (Ensembl)
GRIP2GeneProductENSG00000144596 (Ensembl) Glutamate receptor-interacting protein 2 (GRIP2) also called AMPAR binding protein (ABP) interacts with GRIP1 to regulate AMPAR trafficking
GRM1GeneProductENSG00000152822 (Ensembl)
GRM5GeneProductENSG00000168959 (Ensembl)
HOMER1GeneProductHOMER1 (HGNC)
HOXB8GeneProductENSG00000120068 (Ensembl)
ITPR1GeneProductENSG00000150995 (Ensembl)
KRASGeneProductENSG00000133703 (Ensembl)
MAP1BGeneProductENSG00000131711 (Ensembl) Microtubule-associated protein 1B (MAP1B) is involved in mcirotubule assembly and neurogenesis. MAP1b is involved in the regulation of the morphology of dendritic spines in glutamatergic synapses. Furthermore, MAP1b is a negative regulator of AMPAR surface expression thereby contributing to mGluR-LTD.
MAP2K1GeneProductENSG00000169032 (Ensembl)
MAP2K2GeneProductENSG00000126934 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MECP2GeneProductENSG00000169057 (Ensembl)
MEK-ERK-Mnk1 PathwayPathway
MKNK1GeneProductENSG00000079277 (Ensembl)
MLST8GeneProductENSG00000167965 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
NF1GeneProductENSG00000196712 (Ensembl Human) NF1 functions as a guanine exchange factors (GEF), stimulating the conversion of GTP-bound RAS into GDP-bound RAS and tehreby negatively regulating the MEK-ERK-Mnk1 pathway.
NTRK2GeneProductENSG00000148053 (Ensembl)
PDK1GeneProductENSG00000152256 (Ensembl)
PI3K-Akt-mTOR

Pathway

PathwayWP3844 (WikiPathways)
PICK1GeneProductPICK1 (HGNC) Protein Interacting with Kinase C 1 (PICK1)
PIK3CBGeneProductENSG00000051382 (Ensembl)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PIP3MetaboliteCHEBI:16618 (ChEBI)
PLCB1GeneProductENSG00000182621 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
PP1Protein
PPP2R5BGeneProductENSG00000068971 (Ensembl)
PRKACAGeneProductENSG00000072062 (Ensembl)
PRKAR1AGeneProductENSG00000108946 (Ensembl)
PRKCAGeneProductENSG00000154229 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
PTPN11GeneProductENSG00000179295 (Ensembl)
PTPN5GeneProductENSG00000110786 (Ensembl) Tyrosine-protein phosphatase non-receptor type 5 (STEP) is involves to regulate AMPAR trafficking and negatively regulates AMPAR surface expression thereby contributing to mGluR-LTD.
RAF1GeneProductENSG00000132155 (Ensembl)
RHEBGeneProductENSG00000106615 (Ensembl)
RPS6KB1GeneProductRPS6KB1 (HGNC)
RPTORGeneProductENSG00000141564 (Ensembl)
SH3GL1GeneProductENSG00000141985 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl)
SHANK1GeneProductENSG00000161681 (Ensembl)
SHC1GeneProductSHC1 (HGNC)
SLC16A1GeneProductENSG00000155380 (Ensembl)
SLC6A1RnaENSG00000157103 (Ensembl)
SNAPC3GeneProductENSG00000164975 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl) SOS, a guanine-associated echange factor (GEF), activates Ras by inducing the exchange of GTDP by GTP. This positively regulates Ras signalling.
SYNGAP1GeneProductENSG00000197283 (Ensembl)
Stalled Polyribosomes
TARBP2GeneProductENSG00000139546 (Ensembl)
TBC1D7GeneProductENSG00000145979 (Ensembl)
TECRGeneProductENSG00000099797 (Ensembl)
TELO2GeneProductENSG00000100726 (Ensembl)
TSC1GeneProductENSG00000165699 (Ensembl)
TSC2GeneProductENSG00000103197 (Ensembl)
TTI1GeneProductENSG00000101407 (Ensembl)
Ubiquination Signaling PathwayPathway
cAMPMetaboliteCHEBI:1325 (ChEBI)
glutamateMetaboliteCHEBI:14321 (ChEBI)
miR-125b RnaMIMAT0042091 (miRBase mature sequence)
miR-132 Rna
miR-196a RnaMIMAT0000226 (miRBase mature sequence)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4549"
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