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ProteinQ21113785· pop 7· linked from 63 articles

Nephrocystin 1

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Also known as NPHP1, juvenile nephronophthisis 1 protein, nephronophthisis 1 (juvenile), nephrocystin-1

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

Protein · UniProt

Nephrocystin-1

Gene
NPHP1
Organism
Homo sapiens (Human)
Length
732 aa
Molecular mass
83,299 Da
Evidence
1: Evidence at protein level

Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). 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 (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similari…

3D-structureAlternative splicingCell junctionCell projectionCiliopathyCiliumCilium biogenesis/degradationCoiled coil
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Swiss-Prot (reviewed) · via UniProt

Wikidata facts

Instance of
protein
Show 3 more facts
found in taxon
Homo sapiens
molecular function
protein binding
Sources (2)

via Wikidata · CC0

~1 min read

Encyclopedic overview

4 sections
Contents
  • Function
  • Interactions
  • References
  • Further reading

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

== Function ==

Excerpted from Wikipedia’s “Nephrocystin 1” article, available under the CC BY-SA 4.0 licence.

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