Joubert syndrome (Homo sapiens)

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Ciliary traffickingTransition zoneBasal body / centriole10132102313TMEM1713, 251624262926122614101111327102712735, 15131022112228282128, 32271013102, 7929829222, 3210316307, 19132117NodesLegendAxonemeTMEM67TMEM216Ciliary membraneNodeWNT5AATF4CEP97MYO5ARHOAMYO6ARR3FLNAPIBF1BBS4TCTN3ARL2PtdIns4PNBSTMEM138GDPKAT5PARP1PCM1CEP120PericentrinRP2PDE6BBBS9ATMRHEBDVL1BBS5GDPBBS7PtdIns(3,4,5)P3UNC119NPHP4SHHGMPPtdIns(4,5)P2TCTN1PtdIns(3,4)P2C5orf42ANKS6NPHP3MTORNineinTTC8CSPP1TMEM231ARMC9ARL13BWNT1INVSCCP110CEP104PDE6AZNF423cGMPNEK8GTPCentrin-1Centrin-2BBS1TMEM237MRE11BBS2PDE6GCalmodulinTCTN2B9D1RAD50OFD1INPP5ECEP41NPHP1AHI1RPGRIP1LINPP5EPDE6D1ARL13B13131313B9D2CC2D2AMKS1PDE6DGTPRHEB27PDE6DARL3UNC119NucleusZNF423PDE6DRAB8AGTPCEP290CEP164DVL1WNT1CEP290NodeNodeNodeNon JS-associated gene product or proteinJS-associated gene or gene productMetabolitePathwayMIM-interaction: bindingMIM-interaction: conversionMIM-interaction: activationMIM-interaction: catalysisNature of interaction is unclearLinks two identical nodesEdgesGTPARL3CEP164OFD1


Description

The biological pathways underlying Joubert Syndrome pathogenesis.

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Ontology Terms

 

Bibliography

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  14. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F; ''The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.''; Nat Genet, 2006 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
134349view05:34, 21 July 2024EgonwRemoved template comments
125785view09:57, 10 March 2023DeSlConverted NIN-protein ID to reviewed UniProt
125784view09:55, 10 March 2023DeSlAdded PW node to link to more detailed molecular mechanism
125783view09:52, 10 March 2023DeSlChanged DataNodes in Legend to textLabels
120396view08:56, 30 November 2021Fehrhartboxed pathway nodes
117153view09:44, 18 May 2021EweitzModified title
105130view12:27, 9 July 2019Fehrhartconnected unconnected lines
105068view07:38, 4 July 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
105054view13:07, 3 July 2019AnneDBA small adjustmen was made regarding the structural organization of the pathway.
105022view16:47, 28 June 2019AnneDBModified description
104971view13:54, 27 June 2019AnneDBModified description
104969view13:51, 27 June 2019AnneDBModified description
104958view12:34, 27 June 2019AnneDBModified description
104956view11:41, 27 June 2019AnneDBA few corrections were made, in addition to replacements of interactions of unknown nature by MIM notations.
104932view14:14, 25 June 2019AnneDBModified description
104931view14:12, 25 June 2019AnneDBModified description
104922view11:40, 25 June 2019AnneDBOntology Term : 'signaling pathway' added !
104921view11:40, 25 June 2019AnneDBOntology Term : 'disease pathway' added !
104890view13:18, 23 June 2019AnneDBOntology Term : 'Joubert syndrome' added !
104889view13:14, 23 June 2019AnneDBModified description
104888view13:14, 23 June 2019AnneDBModified description
104887view13:08, 23 June 2019AnneDBModified title
104886view13:07, 23 June 2019AnneDBNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AHI1GeneProductENSG00000135541 (Ensembl)
ANKS6GeneProductENSG00000165138 (Ensembl)
ARL13BGeneProductENSG00000169379 (Ensembl)
ARL2GeneProductENSG00000213465 (Ensembl)
ARL3GeneProductENSG00000138175 (Ensembl)
ARMC9GeneProductENSG00000135931 (Ensembl)
ARR3GeneProductENSG00000120500 (Ensembl)
ATF4GeneProductENSG00000128272 (Ensembl)
ATMGeneProductENSG00000149311 (Ensembl)
B9D1GeneProductENSG00000108641 (Ensembl)
B9D2GeneProductENSG00000123810 (Ensembl)
BBS1GeneProductENSG00000174483 (Ensembl)
BBS2GeneProductENSG00000125124 (Ensembl)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS5GeneProductENSG00000163093 (Ensembl)
BBS7GeneProductENSG00000138686 (Ensembl)
BBS9GeneProductENSG00000122507 (Ensembl)
C5orf42GeneProductENSG00000197603 (Ensembl)
CC2D2AGeneProductENSG00000048342 (Ensembl)
CCP110GeneProductENSG00000103540 (Ensembl)
CEP104GeneProductENSG00000116198 (Ensembl)
CEP120GeneProductENSG00000168944 (Ensembl)
CEP164GeneProductENSG00000110274 (Ensembl)
CEP290GeneProductENSG00000198707 (Ensembl)
CEP41GeneProductENSG00000106477 (Ensembl)
CEP97GeneProductENSG00000182504 (Ensembl)
CSPP1GeneProductENSG00000104218 (Ensembl)
CalmodulinMetaboliteCHEBI:3324 (ChEBI)
Centrin-1ProteinQ12798 (Uniprot-TrEMBL)
Centrin-2ProteinP41208 (Uniprot-TrEMBL)
DVL1GeneProductENSG00000107404 (Ensembl)
FLNAGeneProductENSG00000196924 (Ensembl)
GDPMetaboliteCHEBI:5212 (ChEBI)
GMPMetaboliteCHEBI:16356 (ChEBI)
GTPMetaboliteCHEBI:37565 (ChEBI)
INPP5EGeneProductENSG00000148384 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
KAT5GeneProductENSG00000172977 (Ensembl)
MKS1GeneProductENSG00000011143 (Ensembl)
MRE11GeneProductENSG00000020922 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
MYO5AGeneProductENSG00000197535 (Ensembl)
MYO6GeneProductENSG00000196586 (Ensembl)
NBSMetaboliteCHEBI:53174 (ChEBI)
NEK8GeneProductENSG00000160602 (Ensembl)
NPHP1GeneProductENSG00000144061 (Ensembl)
NPHP3GeneProductENSG00000113971 (Ensembl)
NPHP4GeneProductENSG00000131697 (Ensembl)
NineinProteinC9J066 (Uniprot-TrEMBL)
NodeGeneProduct
OFD1GeneProductENSG00000046651 (Ensembl)
PARP1GeneProductENSG00000143799 (Ensembl)
PCM1GeneProductENSG00000078674 (Ensembl)
PDE6AGeneProductENSG00000132915 (Ensembl)
PDE6BGeneProductENSG00000133256 (Ensembl)
PDE6DGeneProductENSG00000156973 (Ensembl)
PDE6GGeneProductENSG00000185527 (Ensembl)
PIBF1GeneProductENSG00000083535 (Ensembl)
PericentrinProteinO95613 (Uniprot-TrEMBL)
PtdIns(3,4)P2MetaboliteCHEBI:84247 (ChEBI)
PtdIns(3,4,5)P3MetaboliteCHEBI:16618 (ChEBI)
PtdIns(4,5)P2MetaboliteCHEBI:18348 (ChEBI)
PtdIns4PMetaboliteCHEBI:17526 (ChEBI)
RAB8AGeneProductENSG00000167461 (Ensembl)
RAD50GeneProductENSG00000113522 (Ensembl)
RHEBGeneProductENSG00000106615 (Ensembl)
RHOAGeneProductENSG00000067560 (Ensembl)
RP2GeneProductENSG00000102218 (Ensembl)
RPGRIP1LGeneProductENSG00000103494 (Ensembl) C2-containing protein
SHHGeneProductENSG00000164690 (Ensembl)
TCTN1GeneProductENSG00000204852 (Ensembl)
TCTN2GeneProductENSG00000168778 (Ensembl)
TCTN3GeneProductENSG00000119977 (Ensembl)
TMEM138GeneProductENSG00000149483 (Ensembl)
TMEM17GeneProductENSG00000186889 (Ensembl)
TMEM216GeneProductENSG00000187049 (Ensembl)
TMEM231GeneProductENSG00000205084 (Ensembl)
TMEM237GeneProductENSG00000155755 (Ensembl)
TMEM67GeneProductENSG00000164953 (Ensembl)
TTC8GeneProductENSG00000165533 (Ensembl)
UNC119GeneProductENSG00000109103 (Ensembl)
WNT1GeneProductENSG00000125084 (Ensembl)
WNT5AGeneProductENSG00000114251 (Ensembl)
ZNF423GeneProductENSG00000102935 (Ensembl)
cGMPMetaboliteCHEBI:16356 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4656"
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