Fragile X syndrome (Homo sapiens)

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Transport of branched-chain fatty acids and C27 bile acids into the peroxisomerelease of Ca2+repeated occurence of small influxLiverGABA synthesisloss of FMR1 gene productAMPA ReceptorInternalizationAnxiety-like behaviorsTSC complex Mediates movement of lactate and pyruvate across memebranesupregulationmRNA translationweakening of synapseRate limiting enyme of FA beta oxidationdeletionTrkB ReceptorAMPA ReceptorHepatic metabolismPKAoveractivationLong Term Depression AMPA receptor subunitsGABA catabolismSpine dysmorphogenesisGABA A receptor subunitsoverexpressionInhibitory GABAergic neurotransmissionRegulation of neuronal migration, maturation & circuit formationdegradation of FMRPGABA receptor clusteringReduces trans-2,3-enoyl-CoA to saturated acyl-CoANMDA ReceptorFMRP interacting proteinsLong Term Potentiation PSD components for regulation of spine morphology (size and shape)and synaptic functionpostsynaptic membrane of CA1 neuronubiquination sigalling pathway1maximal influxGABA reuptakeFA transporterCytoskeletal OrganizationNeurite ExtensionMicrotubule DynamicsGroup I mGluRmTORC11GDPALDH5A1CREB1GRB2MMP9PIP2glutamatepolyribosomesDICER1GSK3BSH3GL2ARCcAMPGABRA1SLC6A1GABRB2PTPN5BDNFNTRK2DLG4SHC1glutamateGAD1CAMKIV-CREB PathwaySLC16A1PRKACAGRIA1DAG1GRIA2CAMK1GPHNSYNGAP1CAMK4mTOR PathwayCPT1ADNM2PRKACAGABRG2AGO2PP1GRIN2BMEK-ERK-Mnk1 PathwayPTPN5ABATGRIA2FXR1GAD1CAMK2BAPCPLCG1PTPN11ITPR1miR-125bCDH1CalcineurinGRIA1SHANK1DLG4DLGAP3MAP2K2FMR1MAP1BARCMKNK1RPS6KB1MAP1BMAPK1KRASCYFIP1AKT1S1ARCMAP2K1CAMK2ASOS1PPP2R5BEIF4EBP2RAF1NF1EIF4ECAMK2AFMR1DEPTORTELO2RPTORMLST8MTORPIK3CBTTI1GRM5RHEBHOMER1GRM1PDK1AGAP2PIP2PTENPDK2TSC1AKT1PIP3TSC2TBC1D7P at Ser473RHEBGTPP at Ser500KRASGDPGTPPPPPPPTranslation ONTranslation OFFDLGAP3SHANK1GRIN2BGRIN2BGABRA1GABRB2GABRG2GPHNSLC6A1ABATALDH5A1Excitation/inhibition imbalanceDysfucntional GABAergic synaptic plasticity in interneuronsALDH3A2ABCD3TECRCPT1ASLC16A1ALDH3A2ABCD3TECRPPRKAR1APRKAR1APPFMR1Influx Ca2+GRIA1GRIA2AMPA ReceptorAMPA Receptor Integration PPGRIA2GRIA1PPGRIA1GRIA2FXR2NUFIP1NUFIP2miR-132miR-196aSH3GL2DNM223PP at Thr308


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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)
APC GeneProduct324 (Entrez Gene)
ARC GeneProductENSG00000198576 (Ensembl Human)
ARCGeneProductENSG00000198576 (Ensembl Human)
BDNFGeneProductENSG00000176697 (Ensembl)
CAMK1GeneProductENSG00000134072 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
CAMK2BGeneProductENSG00000058404 (Ensembl)
CAMK4GeneProductENSG00000152495 (Ensembl)
CAMKIV-CREB PathwayPathway
CDH1GeneProductENSG00000039068 (Ensembl)
CPT1AGeneProductENSG00000110090 (Ensembl)
CREB1GeneProductENSG00000118260 (Ensembl)
CYFIP1GeneProductENSG00000273749 (Ensembl)
CalcineurinProtein
DAG1GeneProductENSG00000173402 (Ensembl)
DEPTORGeneProductENSG00000155792 (Ensembl)
DICER1GeneProductENSG00000100697 (Ensembl)
DLG4RnaENSG00000132535 (Ensembl)
DLGAP3GeneProductENSG00000116544 (Ensembl)
DNM2GeneProductENSG00000079805 (Ensembl)
EIF4EBP2GeneProductENSG00000148730 (Ensembl)
EIF4EGeneProductENSG00000151247 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
FXR1GeneProductENSG00000114416 (Ensembl)
FXR2GeneProductENSG00000129245 (Ensembl)
GABRA1RnaENSG00000022355 (Ensembl)
GABRB2RnaENSG00000145864 (Ensembl)
GABRG2RnaENSG00000113327 (Ensembl)
GAD1GeneProductENSG00000128683 (Ensembl)
GPHNRnaENSG00000171723 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIA1GeneProductENSG00000155511 (Ensembl)
GRIA2GeneProductENSG00000120251 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRM1GeneProductENSG00000152822 (Ensembl)
GRM5GeneProductENSG00000168959 (Ensembl)
GSK3BGeneProductENSG00000082701 (Ensembl)
HOMER1GeneProductHOMER1 (HGNC)
ITPR1GeneProductENSG00000150995 (Ensembl)
KRASGeneProductENSG00000133703 (Ensembl)
MAP1BGeneProductENSG00000131711 (Ensembl)
MAP2K1GeneProductENSG00000169032 (Ensembl)
MAP2K2GeneProductENSG00000126934 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MEK-ERK-Mnk1 PathwayPathway
MKNK1GeneProductENSG00000079277 (Ensembl)
MLST8GeneProductENSG00000167965 (Ensembl)
MMP9GeneProductENSG00000100985 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
NF1GeneProductENSG00000196712 (Ensembl Human)
NTRK2GeneProductENSG00000148053 (Ensembl)
NUFIP1GeneProductENSG00000083635 (Ensembl)
NUFIP2GeneProductENSG00000108256 (Ensembl)
PDK1GeneProductENSG00000152256 (Ensembl)
PDK2GeneProductENSG00000005882 (Ensembl)
PIK3CBGeneProductENSG00000051382 (Ensembl)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PIP3MetaboliteCHEBI:16618 (ChEBI)
PLCG1GeneProductENSG00000124181 (Ensembl)
PP1Protein
PPP2R5BGeneProductENSG00000068971 (Ensembl)
PRKACAGeneProductENSG00000072062 (Ensembl)
PRKAR1AGeneProductENSG00000108946 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
PTPN11GeneProductENSG00000179295 (Ensembl)
PTPN5GeneProductENSG00000110786 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RHEBGeneProductENSG00000106615 (Ensembl)
RPS6KB1GeneProductRPS6KB1 (HGNC)
RPTORGeneProductENSG00000141564 (Ensembl)
SH3GL2GeneProductENSG00000107295 (Ensembl)
SHANK1GeneProductENSG00000161681 (Ensembl)
SHC1GeneProductSHC1 (HGNC)
SLC16A1GeneProductENSG00000155380 (Ensembl)
SLC6A1RnaENSG00000157103 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl)
SYNGAP1GeneProductENSG00000197283 (Ensembl)
TBC1D7GeneProductENSG00000145979 (Ensembl)
TECRGeneProductENSG00000099797 (Ensembl)
TELO2GeneProductENSG00000100726 (Ensembl)
TSC1GeneProductENSG00000165699 (Ensembl)
TSC2GeneProductENSG00000103197 (Ensembl)
TTI1GeneProductENSG00000101407 (Ensembl)
cAMPMetaboliteCHEBI:1325 (ChEBI)
glutamateMetaboliteCHEBI:14321 (ChEBI)
mTOR Pathway Pathway
miR-125b Rna
miR-132 Rna
miR-196a Rna
polyribosomes

Annotated Interactions

No annotated interactions

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