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Summary ExpressionExpr. PhenotypesPheno. Gene Literature (6)Lit. (6) GO Terms (28)GO (28) Nucleotides (94)Nucl. (94) Proteins (42)Prot. (42) Interactants (188)Interact. (188) Wiki
XB-GENEPAGE-486282
???displayGene.symbol???:
 nphp1

???displayGene.name???: 
nephronophthisis 1 (juvenile)

???displayGene.synonyms???
nephrocystin , nephrocystin 1 , nephrocystin1 ( Nomenclature history )

???displayGene.geneFunction???
zinc finger transcription factor

AI Protein Function :
nphp1 encodes a ciliary transition‑zone scaffold protein that localizes to basal bodies and the transition zone of primary cilia and is also detected in the cytoplasm; it is required for proper assembl...[+]


InterPro :
NPHP1, NPHP1 SH3, SH3-like dom sf, SH3 domain

???displayGene.geneInteractants???
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Diseases: 


Disease Ontology:
Senior-Loken syndrome [+]

MIM:
JOUBERT SYNDROME 4; JBTS4 [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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