Nephrocystine-1

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Nephrocystine-1
Properties of human protein
Mass / length primary structure 732 amino acids
Isoforms 4th
Identifier
Gene name NPHP1
External IDs
Occurrence
Parent taxon Multicellular animals

Nephrocystin-1 is a protein in the adherence connections of the epithelial cells of vertebrate animals , which is probably partly responsible for the control of the cell polarity . It is therefore a structural protein that is associated with the primary cilium . In humans, nephrocystin-1 is particularly expressed in the pituitary gland , spinal cord , thyroid , testes , skeletal muscles , lymph nodes and bronchi , but also in the heart , kidneys and pancreas . Mutations at NPHP1 - gene can juvenile nephronophthisis , for senior Løken syndrome type 1, or Joubert syndrome lead type. 4

Nephrocystin-1 binds to the cell migration protein CAS and thus supports signal cascades that are generated by tyrosine kinase 2beta ( PTK2B ) on the cellular matrix. Nephrocystin-1 also binds to nephroretinin and tensin , and it interacts with inversin and nephrocystin-2 , as well as Ack1 kinase.

In the nematode ( Caenorhabditis elegans ) defects in nephrocystin-1 lead to behavioral disorders that are typical of sensory defects in the cilia, such as reduced efficiency in male copulation and defects in chemotaxis with respect to volatile substances. Nephrocystin-1 is located at the base of the primary cilia in worms.

Individual evidence

  1. ↑ Homologues at OMA
  2. ↑ a b UniProt O15259
  3. ↑ a b James R Davenport, Bradley K Yoder: An incredible decade for the primary cilium: a look at a once-forgotten organelle Archived from the original on November 24, 2009. Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. In: Am J Physiol Renal Physiol . 289, No. 6, 2005, pp. F1159-1169. doi : 10.1152 / ajprenal.00118.2005 . PMID 16275743 . Retrieved September 15, 2009.  @1@ 2Template: Webachiv / IABot / ajprenal.physiology.org
  4. ↑ L Eley, Moochhala SH, Simms R, Hildebrandt F, Sayer JA: Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct . In: Biochem Biophys Res Commun . 371, No. 4, 2008, pp. 877-82. doi : 10.1016 / j.bbrc.2008.05.016 . PMID 18477472 .
  5. ↑ Marlene E Winkelbauer, Jenny C Schafer, Courtney J Haycraft, Peter Swoboda, Bradley K Yoder: The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception . In: J Cell Sci . 118, No. 23, 2005, pp. 5575-5587. doi : 10.1242 / jcs.02665 . PMID 16291722 .

Web links