NPHP1 deletion syndrome (Homo sapiens)

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21, 3211Primary cilia of renal tubular cellsEstablish cell polarityFLNBNPHP transition zone complexFLNAMAPK3NPHP4INVSBCAR1PTK2BNPHP1RPGRIP1LMAPK1FLNCNPHP1PTK2BPTK2B


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. Howevre, as in many ciliopathies, neuronal functions are also affected, causing psychiatric disorders.

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Ontology Terms

 

Bibliography

  1. 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
  2. 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
  3. 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

History

View all...
CompareRevisionActionTimeUserComment
134656view09:25, 24 July 2024EgonwCompleted a datasource
134434view23:31, 21 July 2024EweitzOntology Term : 'kidney cell' added !
134433view23:29, 21 July 2024EweitzOntology Term : 'nephronophthisis' added !
134432view23:29, 21 July 2024EweitzOntology Term : 'kidney disease' added !
134431view23:29, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
134430view23:28, 21 July 2024EweitzOntology Term : 'ciliopathy' added !
134429view23:27, 21 July 2024EweitzModified description
134428view23:26, 21 July 2024EweitzStandardize case
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 complexComplexCPX-2806 (Complex Portal) Complex portal
NPHP1GeneProductENSG00000144061 (Ensembl)
NPHP4GeneProductENSG00000131697 (Ensembl)
PTK2BGeneProductENSG00000120899 (Ensembl) PYK2
RPGRIP1LGeneProductENSG00000103494 (Ensembl)

Annotated Interactions

No annotated interactions

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