NICOL1

Chr 4

NELL2 interacting cell ontogeny regulator 1

Also known as: C4orf48, CHR4_55, NICOL

NCBI Gene: 401115 ENSG00000243449 UniProt: Q5BLP8 OMIM: 614690

The protein binds to the 3'-UTR of target mRNAs including SERPINE1, ACTA2, CCN2 and COL4A1, stabilizing these transcripts and promoting extracellular matrix production, and also functions as a testis-derived factor that triggers epididymal differentiation and sperm maturation. Based on the available data, no specific disease associations or inheritance patterns have been established for NICOL1 mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

—

Mechanism