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NPHP1

From Wikipedia, the free encyclopedia

NPHP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
External IDsOMIM: 607100; MGI: 1858233; HomoloGene: 229; GeneCards: NPHP1; OMA:NPHP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001291012
NM_001291013
NM_016902
NM_001355429
NM_001369236

RefSeq (protein)

NP_001277941
NP_001277942
NP_058598
NP_001342358
NP_001356165

Location (UCSC)Chr 2: 110.12 – 110.21 MbChr 2: 127.58 – 127.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[5]

Function

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This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[5]

Interactions

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NPHP1 has been shown to interact with BCAR1,[6][7] PTK2B,[7] Filamin[8] and INVS.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144061Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027378Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)".
  6. ^ Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.
  7. ^ 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". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
  8. ^ Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
  9. ^ 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 (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". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMC 3732175. PMID 12872123.

Further reading

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