NIN (Ninein)
Centrosomal protein involved in microtubule organization and cell division
Gene Information Card
| Symbol | NIN |
|---|---|
| Full Name | Ninein |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 51199 ncbi.nlm.nih.gov/gene/51199 |
| Ensembl ID | ENSG00000100526 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 608684 |
| HGNC ID | 14906 |
| Aliases | GSK3B interacting protein, NIN1 |
Description
The NIN gene encodes ninein, a centrosomal protein essential for microtubule anchoring and organization at the centrosome. It plays a critical role in cell polarity, ciliogenesis, and cell division. Mutations in NIN are associated with Seckel syndrome and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Seckel syndrome | Disrupted centrosome function leads to impaired cell proliferation and microcephaly | OMIM #608684; PMID 21983783 |
| Primary microcephaly | Defective microtubule organization affects neural progenitor division | ClinVar; PMID 21983783 |
| Ciliopathy spectrum | Ninein dysfunction impairs cilia formation and signaling | UniProt; PMID 21983783 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| U2OS | 8.9 | Osteosarcoma cell line |
| HepG2 | 7.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2674C>T (p.Arg892*) | Nonsense | Rare | Loss of function; associated with Seckel syndrome |
| c.1231G>A (p.Gly411Arg) | Missense | Rare | Impaired centrosomal localization |
| c.3456_3457del (p.Glu1152fs) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated ninein protein, disrupting centrosome function and causing Seckel syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; NIN mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • microtubule anchoring |
| • cell division | • ciliary basal body |
| • protein binding |
Pathways
• Centrosome maturation
• Microtubule organization
• Ciliogenesis
Protein Summary
Ninein is a 2097-amino-acid protein localized to the centrosome, particularly the subdistal appendages of the mother centriole. It anchors microtubule minus ends and is required for cilia formation. The protein interacts with GSK3B and other centrosomal components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NINJ1 Knockout HeLa Cell Line | EDJ-KQ26 | Human | 4814 | Details Get a Quote |
| NINJ1 Knockout IPI-2I Cell Line | EDJ-KQ70 | Porcine | 110260095 | Details Get a Quote |
| NINJ1 Knockout HEK293 Cell Line | EDJ-KQ1122 | Human | 4814 | Details Get a Quote |
| NINL Knockout HEK293 Cell Line | EDJ-KQ3317 | Human | 22981 | Details Get a Quote |
| NINJ2 Knockout HEK293 Cell Line | EDJ-KQ5346 | Human | 4815 | Details Get a Quote |
| NIN Knockout HEK293 Cell Line | EDJ-KQ10968 | Human | 51199 | Details Get a Quote |
| NINJ1 Knockout A-549 Cell Line | EDJ-KQ20312 | Human | 4814 | Details Get a Quote |
| NINJ1 Knockout HCT 116 Cell Line | EDJ-KQ20313 | Human | 4814 | Details Get a Quote |
| NINL Knockout A-549 Cell Line | EDJ-KQ26266 | Human | 22981 | Details Get a Quote |
| NINL Knockout HCT 116 Cell Line | EDJ-KQ26267 | Human | 22981 | Details Get a Quote |
| NINL Knockout HeLa Cell Line | EDJ-KQ26268 | Human | 22981 | Details Get a Quote |
| NINJ2 Knockout A-549 Cell Line | EDJ-KQ28451 | Human | 4815 | Details Get a Quote |
| NINJ2 Knockout HeLa Cell Line | EDJ-KQ28452 | Human | 4815 | Details Get a Quote |
| NIN Knockout HeLa Cell Line | EDJ-KQ37486 | Human | 51199 | Details Get a Quote |
| NIN Knockout A-549 Cell Line | EDJ-KQ38788 | Human | 51199 | Details Get a Quote |
