NICN1: Tubulin Polyglutamylase Complex Assembly Factor 1
Essential regulator of tubulin polyglutamylation and neuronal microtubule function
Gene Information Card
| Symbol | NICN1 |
|---|---|
| Full Name | Tubulin Polyglutamylase Complex Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 84276 ncbi.nlm.nih.gov/gene/84276 |
| Ensembl ID | ENSG00000163629 |
| UniProt ID | Q9BSH3 |
| OMIM ID | 617814 |
| HGNC ID | 19682 |
| Aliases | TPCAF1, C3orf23, NICN1 |
Description
NICN1 (tubulin polyglutamylase complex assembly factor 1) encodes a protein that functions as an assembly factor for the tubulin polyglutamylase complex. This complex catalyzes the post-translational polyglutamylation of tubulin, a modification critical for microtubule stability, neuronal function, and ciliary motility. NICN1 is highly expressed in brain and testis, and its dysregulation is implicated in neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair tubulin polyglutamylation, disrupting neuronal microtubule dynamics | ClinVar, OMIM |
| Glioblastoma | Overexpression of NICN1 promotes tumor cell proliferation and migration | COSMIC, PubMed |
| Primary ciliary dyskinesia | Defective assembly of polyglutamylase complex leads to abnormal ciliary motility | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Testis | 12.3 | High |
| Heart | 4.1 | Medium |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.1 | Neuronal model |
| HeLa (cervical carcinoma) | 8.7 | Epithelial |
| HEK293 (embryonic kidney) | 6.4 | Common cell line |
| U87MG (glioblastoma) | 15.3 | Brain cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.352C>T (p.Arg118*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired complex assembly; ClinVar pathogenic |
| c.601_603del (p.Lys201del) | In-frame deletion | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing tubulin polyglutamylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations that disrupt complex assembly without complete loss of wild-type allele.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule (GO:0005874) |
| • microtubule anchoring (GO:0034453) | • gamma-tubulin binding (GO:0043015) |
| • tubulin polyglutamylation (GO:0070539) |
Pathways
• Tubulin polyglutamylation pathway
• Microtubule cytoskeleton organization
Protein Summary
NICN1 (TPCAF1) is a 244-amino acid protein that localizes to centrosomes and microtubules. It acts as a scaffold to assemble the tubulin polyglutamylase complex, which adds glutamate side chains to alpha- and beta-tubulin. This modification regulates microtubule severing, ciliary function, and neuronal outgrowth. The protein contains a conserved domain essential for interaction with tubulin and other complex subunits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NICN1 Knockout HEK293 Cell Line | EDJ-KQ51828 | Human | 84276 | Details Get a Quote |
| NICN1 Knockout HeLa Cell Line | EDJ-KQ57568 | Human | 84276 | Details Get a Quote |
| NICN1 Knockout A-549 Cell Line | EDJ-KQ66065 | Human | 84276 | Details Get a Quote |
| NICN1 Knockout HCT 116 Cell Line | EDJ-KQ74487 | Human | 84276 | Details Get a Quote |
