NPHP1 notes
Deep research: skipped. Falcon times out after 600 s in this environment and perplexity-lite is not installed. The review is based on cached publications, UniProt O15259 and PubMed searches. No deep-research file was generated.
Key findings
- NPHP1 localizes to the transition zone of renal, respiratory and photoreceptor connecting cilia PMID:16885411.
- NPHP1 is not required for ciliogenesis on its own PMID:16885411.
- With NPHP4 and RPGRIP1L it forms the NPHP1-4-8 module, found at cell-cell contacts and at the transition zone PMID:21565611.
- It acts redundantly with the MKS module PMID:28401750. The worm modules are described in PMID:21422230.
- It is needed for timely tight-junction formation PMID:19755384.
- Its SH3 domain binds proline-rich motifs: in polycystin-1 PMID:20856870 and in ADAM12/15/19 PMID:25825872. Generic protein-binding rows from these papers were changed to GO:0070064 proline-rich region binding. Other protein-binding rows were removed as uninformative.
Decisions
- The structural molecule activity (NAS) row was removed as a placeholder.
- No specific molecular function is assigned to the transition-zone core function; molecular_function is left unset.
- Visual behavior (NAS) was removed because it is a disease phenotype, not a process NPHP1 carries out.