NPHP1 deletion syndrome (Homo sapiens)

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33221, 2Establish cell polarityprimary cilia of renal tubular cellsFLNBNPHP transition zone complexFLNAFLNCNPHP4BCAR1NPHP1MAPK1PTK2BMAPK3INVSRPGRIP1LNPHP1PTK2BPTK2B


Description

Mutations or loss of NPHP1 cause nephronophthisis (NPHP), a rare genetic disorder. Due to the involvement of NPHP1 in ciliary function and cellular orientation in kidney, the main symptoms of the disorder are found in kidney development and function but as many ciliopathies, also neuronal functions are affected causing psychiatric disorders.

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Ontology Terms

 

Bibliography

  1. Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK; ''Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells.''; Exp Cell Res, 2000 PubMed Europe PMC Scholia
  2. Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G; ''Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  3. Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F; ''Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.''; Nat Genet, 2003 PubMed Europe PMC Scholia

History

CompareRevisionActionTimeUserComment
127059view15:18, 26 July 2023FehrhartOntology Term : 'disease pathway' added !
127058view15:18, 26 July 2023FehrhartOntology Term : 'nephronophthisis 3' added !
127057view15:16, 26 July 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
BCAR1GeneProductENSG00000050820 (Ensembl) CAS, CAS1, CASS1, CRKAS, P130Cas
FLNAGeneProductENSG00000196924 (Ensembl)
FLNBGeneProductENSG00000136068 (Ensembl)
FLNCGeneProductENSG00000128591 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
NPHP transition zone complexCPX-2806Complex portal
NPHP1GeneProductENSG00000144061 (Ensembl)
NPHP4GeneProductENSG00000131697 (Ensembl)
PTK2BGeneProductENSG00000120899 (Ensembl) PYK2
RPGRIP1LGeneProductENSG00000103494 (Ensembl)

Annotated Interactions

No annotated interactions

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