NPHP1 - Nephrocystin-1 - human protein (Function)
 
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Protein
Gene
References

 
NPHP1 »  Nephrocystin-1
 
Protein also known as:  Juvenile nephronophthisis 1 protein.
Gene name:  NPHP1
Family name: Nephrocystin-1
Entry whose protein(s) existence is based on evidence at protein level
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1 49 4
GENE REF ISO

Function

 show evidences
Overview 
Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity).  
  • CuratedUniProtKB
GO molecular function 
Protein bindingdefinition[GO:0005515]  
7
  • IPIUniProtKB
  • IPIIntAct
  • IPIHGNC
Structural molecule activitydefinition[GO:0005198]  
1
  • NASUniProtKB
GO biological process 
Actin cytoskeleton organizationdefinition[GO:0030036]  
1
  • NASUniProtKB
Cell projection organizationdefinition[GO:0030030]  
  • ISSOrtholog Curator
Cellular protein localizationdefinition[GO:0034613] silver  
  • IEAOrtholog Compara
Excretiondefinition[GO:0007588]  
1
  • TASPINC
Photoreceptor cell outer segment organizationdefinition[GO:0035845] silver  
  • IEAOrtholog Compara
Retina development in camera-type eyedefinition[GO:0060041]  
  • ISSOrtholog Curator
Signal transductiondefinition[GO:0007165]  
1
  • NASUniProtKB
Single organismal cell-cell adhesiondefinition[GO:0016337]  
1
  • NASUniProtKB
Spermatid differentiationdefinition[GO:0048515]  
  • ISSOrtholog Curator
Visual behaviordefinition[GO:0007632]  
1
  • NASUniProtKB
Note 
Nephronophthisis type 1 patients deficient for NPHP1 show normal overall integrity of respiratory cilia.  
  • CuratedUniProtKB
 

Keywords

Biological process 
Cilium biogenesis/degradation  definition   [KW-0970]
Differentiation  definition   [KW-0221]
Spermatogenesis  definition   [KW-0744]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: NPHP1
GenomeRNAi: 4867
PRO: PR:O15259