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NOS1AP

Chr 1q23.3

nitric oxide synthase 1 adaptor protein

Aliases:
KIAA0464, CAPON
MANE:
ENST00000361897.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained young onset end-stage renal disease - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Long QT syndrome

    Unknown
  • Short QT syndrome

Disease associations (Open Targets)

  • nephrotic syndrome, type 22

    0.63
  • neurodegenerative disease

    0.49
  • Romano-Ward syndrome

    0.39
  • alcohol drinking

    0.36
  • smoking cessation

    0.32
  • cervical squamous cell carcinoma

    0.31
  • immune system disorder

    0.31
  • familial long QT syndrome

    0.30
  • seasonal allergic rhinitis

    0.29
  • knee fracture

    0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein

Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation (PubMed:33523862)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.