NICOL1: A Key Regulator of Neuronal Development and Function
Comprehensive genomic and proteomic analysis of NICOL1 (Nicolin 1)
Gene Information Card
| Symbol | NICOL1 |
|---|---|
| Full Name | Nicolin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 25962 ncbi.nlm.nih.gov/gene/25962 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q9BVV6 |
| OMIM ID | 614562 |
| HGNC ID | 25962 |
| Aliases | C4orf18, FLJ20366, MGC13170 |
Description
NICOL1 (Nicolin 1) is a protein-coding gene located on chromosome 4q31.1. It encodes a protein involved in neuronal development and synaptic function. The gene is expressed in various tissues, with highest levels in the brain. NICOL1 mutations have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and intellectual disability | Loss-of-function mutations in NICOL1 disrupt neuronal development | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in NICOL1 may contribute to ASD risk | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| HeLa (cervical cancer) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256C>T (p.Arg86*) | Nonsense | Rare | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg86* leads to premature stop codon and likely nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nervous system development (GO:0007399) | • chemical synaptic transmission (GO:0007268) |
| • plasma membrane (GO:0005886) |
Pathways
• Neuronal development pathway (Reactome: R-HSA-9675108)
Protein Summary
Nicolin 1 is a 245-amino acid protein localized to the plasma membrane. It is predicted to contain a single transmembrane domain and is involved in neuronal differentiation and synapse formation. The protein is highly conserved in vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NICOL1 Knockout HEK293 Cell Line | EDJ-KQ11617 | Human | 401115 | Details Get a Quote |
| NICOL1 Knockout A-549 Cell Line | EDJ-KQ39965 | Human | 401115 | Details Get a Quote |
| NICOL1 Knockout HCT 116 Cell Line | EDJ-KQ39966 | Human | 401115 | Details Get a Quote |
| NICOL1 Knockout HeLa Cell Line | EDJ-KQ39967 | Human | 401115 | Details Get a Quote |
