NRP1

Chr 10

neuropilin 1

Also known as: BDCA4, CD304, NP1, NRP, VEGF165R

NCBI Gene: 8829 ENSG00000099250 UniProt: O14786

Neuropilin-1 functions as a co-receptor that binds vascular endothelial growth factor (VEGF) and semaphorin family members to control cell migration, survival, and attraction during development. Mutations cause congenital insensitivity to pain with anhidrosis through an autosomal recessive inheritance pattern, affecting the peripheral nervous system and sweat gland function. This gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that heterozygous loss-of-function mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Nov 2020]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

211

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)