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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NICOL1
NELL2 interacting cell ontogeny regulator 1
Chromosome 4 Β· 4p16.3
NCBI Gene: 401115Ensembl: ENSG00000243449.9HGNC: HGNC:34437UniProt: Q5BLP8
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615spermatogenesis3'-UTR-mediated mRNA stabilizationmRNA 3'-UTR bindinglagophthalmosazoospermiapartial chromosome Y deletionspermatogenic failure 63
✦AI Summary

Based on limited published evidence, NICOL1 is an mRNA-binding protein that stabilizes target mRNAs including SERPINE1, ACTA2, CCN2, and COL4A1, potentially promoting extracellular matrix production. It binds 3'-UTR regions and may prevent SERBP1-mediated degradation. NICOL1 functions as a testis-derived lumicrine factor regulating epididymal differentiation and sperm maturation. Recent single-cell RNA sequencing identifies NICOL1 as a gatekeeper of trophoblast stem cell state during placental development 1.

Sources cited
1
NICOL1 identified as a gatekeeper of trophoblast stem cell state during early placental differentiation and trophoblast lineage specification
PMID: 39747179
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
lagophthalmosOpen Targets
0.26Weak
azoospermiaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
spermatogenic failure 83Open Targets
0.06Suggestive
rectosigmoid junction neoplasmOpen Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.05Suggestive
spermatogenic failure 7Open Targets
0.05Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 16Open Targets
0.05Suggestive
spermatogenic failure 21Open Targets
0.05Suggestive
spermatogenic failure 29Open Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 79Open Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
spermatogenic failure 58Open Targets
0.05Suggestive
spermatogenic failure 10Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
L1TD1Shared pathway50%SPMIP7Shared pathway50%CBY3Shared pathway50%ARRDC5Shared pathway50%C3orf62Shared pathway50%TXNDC8Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
21%
Lung
14%
Ovary
14%
Liver
10%
Heart
0%
Gene Interaction Network
Click a node to explore
NICOL1L1TD1SPMIP7CBY3ARRDC5C3orf62TXNDC8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5BLP8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.83LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF1.05 [0.54–1.83]
RankingsWhere NICOL1 stands among ~20K protein-coding genes
  • #17,392of 20,598
    Most Researched9
  • #16,732of 17,882
    Most Constrained (LOEUF)1.83
Genes detectedNICOL1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Single-cell RNA sequencing identifies CXADR as a fate determinant of the placental exchange surface.
PMID: 39747179
Nat Commun Β· 2025
1.00