Sequence Detail

ID/Version

Q9QY53 Q9WUZ2 Q9QZP0 Q9D7G8 (UniProt | EBI)

Last sequence update: 2000-05-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Nephrocystin-1;

Provider

SWISS-PROT

Sequence

Polypeptide 687 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Nphp1	nephronophthisis 1 (juvenile) homolog (human)	39	101	3	18

Sequence references in MGI

J:61551 Donaldson JC, et al., Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res. 2000 Apr 10;256(1):168-78
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:140205 Jiang ST, et al., Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum Mol Genet. 2008 Nov 1;17(21):3368-79
J:147158 Jiang ST, et al., Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. Hum Mol Genet. 2009 May 1;18(9):1566-77
J:163132 Fliegauf M, et al., Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol. 2006 Sep;17(9):2424-33
J:165121 Wodarczyk C, et al., Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals. PLoS One. 2010;5(9):e12719
J:173396 Sang L, et al., Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28
J:219557 Yakulov TA, et al., Anks3 interacts with nephronophthisis proteins and is required for normal renal development. Kidney Int. 2015 Jun;87(6):1191-200
J:264617 Dharmat R, et al., SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 Aug 6;217(8):2851-2865
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89