Nephronophthisis 1 (juvenile)

PDB rendering based on 1s1n.
Symbols NPHP1; FLJ97602; JBTS4; NPH1; SLSN1
External IDs OMIM607100 MGI1858233 HomoloGene229 GeneCards: NPHP1 Gene
RNA expression pattern
PBB GE NPHP1 206285 at tn.png
More reference expression data
Species Human Mouse
Entrez 4867 53885
Ensembl ENSG00000144061 ENSMUSG00000027378
UniProt O15259 Q0VF70
RefSeq (mRNA) NM_000272.3 NM_016902.3
RefSeq (protein) NP_000263.2 NP_058598.1
Location (UCSC) Chr 2:
110.88 – 110.96 Mb
Chr 2:
127.57 – 127.61 Mb
PubMed search [1] [2]

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[1]

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[1]


NPHP1 has been shown to interact with BCAR1,[2][3] PTK2B,[3] Filamin[4] and INVS.[5]


  1. ^ a b "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)". 
  2. ^ Donaldson, J C; Dempsey P J, Reddy S, Bouton A H, Coffey R J, Hanks S K (Apr. 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Exp. Cell Res. (UNITED STATES) 256 (1): 168–78. doi:10.1006/excr.2000.4822. ISSN 0014-4827. PMID 10739664. 
  3. ^ a b Benzing, T; Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug. 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proc. Natl. Acad. Sci. U.S.A. (United States) 98 (17): 9784–9. doi:10.1073/pnas.171269898. ISSN 0027-8424. PMC 55530. PMID 11493697. 
  4. ^ Donaldson, John C; Dise Rebecca S, Ritchie Marylyn D, Hanks Steven K (Aug. 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. (United States) 277 (32): 29028–35. doi:10.1074/jbc.M111697200. ISSN 0021-9258. PMID 12006559. 
  5. ^ Otto, Edgar A; Schermer Bernhard, Obara Tomoko, O'Toole John F, Hiller Karl S, Mueller Adelheid M, Ruf Rainer G, Hoefele Julia, Beekmann Frank, Landau Daniel, Foreman John W, Goodship Judith A, Strachan Tom, Kispert Andreas, Wolf Matthias T, Gagnadoux Marie F, Nivet Hubert, Antignac Corinne, Walz Gerd, Drummond Iain A, Benzing Thomas, Hildebrandt Friedhelm (Aug. 2003). "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. (United States) 34 (4): 413–20. doi:10.1038/ng1217. ISSN 1061-4036. PMID 12872123. 

Further reading

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