NIN ninein (GSK3B interacting protein)
2004-09-01 José Luis Vizmanos   AffiliationDepartamento de Genética, Facultad de Ciencias, Universidad de Navarra, 31008 Pamplona, Navarra, Espana
Identity
HGNC
LOCATION
14q22.1
IMAGE

LEGEND
Genomic structure of NIN. Black boxes indicate exons.
LOCUSID
ALIAS
SCKL7
FUSION GENES
DNA/RNA
Description
31 exons spanning 111.3 Kb on 14q22.1. Transcription is from telomere to centromere.
Transcription
5 alternative transcripts:
Variant 2 encodes de longest isoform
Variant 1 contains a different 3 terminal region and the resulting protein has a distinct and shorter C-terminus.
Variant 3 contains also a different 3 terminal region and it encodes isoform 3 , with a shorter and distinct C-terminus than variant 2.
Variant 4 differs in the 5 and 3 UTRs, and has multiple differences in the coding region. The resulting isoform 4 contains an additional internal segment, when compared to isoform 2, has a longer and distinct N-terminus, and has a shorter and distinct C-terminus.
Variant 5 has multiple differences in the coding region and 3 UTR, the resulting isoform 5 contains an additional internal segment and has a distinct and shorter C-terminus. Isoform 5 has also been referred to as hNinein-Lm.
Q9HCK7 corresponding to RefSeq variant 4.
NIN corresponding to RefSeq variant 5.
NIN corresponding to RefSeq variant 4.
NM_182944 corresponding to RefSeq variant 1.
4 alternative transcripts in EnsEMBL 1:
Proteins
Note
Ninein (GSK3B interacting protein)

Schematic representation of NIN. LZ: leuzine-zipper domain. Coiled-coil domains are indicated with asterisks.
Description
Homooligomer. Interacts with GSK3B (GSK3-beta) via its C-terminus domain, ait also interacts with C14ORF166 preventing its phosphorylation by GSK3-beta. NIN is a component of the core centrosome. Arranged in a tubular conformation with an open and a closed end within the centrosome. In the mother centrosome, it localizes at both ends of the centrosome tube, including the site of centrosome duplication, while in the daughter centrosome it is present only at the closed end. Requires PCM1 for centrosome localization. In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase and reappears in telophase.
Expression
Ubiquitous. Highly expressed in heart and skeletal muscle.
Localisation
Centrosome.
Function
The centrosome is the major microtubulin-organizing center (MTOC) in most vertebrate cells. In a typical somatic cell, the centrosome is composed of a pair of centrioles surrounded by a mass of amorphous pericentriolar material (PCM) that may be involved in the complex of Y-tubulin, centrin, pericentrin and ninein. This protein play an important role as a microtubule minus-end capping, centriole position, anchoring factor and as a centrosome maturation factor. Localization of this protein to the centrosome requires three of its four leucine zippers in the central coiled-coil domain. In addition it has been suggested that ninein could play a role to ensure equal chromosome segregation prior to telophase/cytokinesis in the division cycle.
Homology
It presents homology in various species. It also belongs to ENSF00000001557 protein family.
Mutations
Somatic
t(5;14)(q33;q24) 5 NIN-PDGFRB 3 fusion in a chronic myeloprolifetrative disorder with eosinophilia
Implicated in
Entity name
t(5;14)(q33;q24) , 5q33 myeloproliferative disease.
Disease
Chronic myeloproliferative disorder with eosinophilia and skin lesions ( "Atypical CML").
Prognosis
Good. Relative mild disease course over at least 13 years. Imatinib mesylate responsive disease.
Cytogenetics
t(5;14)(q33;q24)
Hybrid gene
5 NIN-PDGFRB 3
Fusion protein
NIN-PDGFRB

Schematic representation of the fusion NIN-PDGFRB consecuence of the t(5;14)(q33;q24) in a chronic myeloprolifetrative disorder with eosinophilia. From up to down: PDGFRB, NIN and the putative chimeric NIN-PDGFRB structure. TM, transmembrane domain; TK, tyrosine kinase domain; LZ, leuzine-zipper domain. Coiled coil domains on NIN and NIN-PDGFRB are indicated with asterisks.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8834802 | 1996 | Molecular characterisation of ninein, a new coiled-coil protein of the centrosome. | Bouckson-Castaing V et al |
| 12927815 | 2003 | Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle. | Chen CH et al |
| 12403812 | 2002 | Assembly of centrosomal proteins and microtubule organization depends on PCM-1. | Dammermann A et al |
| 11533726 | 2001 | Re-evaluating centrosome function. | Doxsey S et al |
| 8124707 | 1994 | Pericentrin, a highly conserved centrosome protein involved in microtubule organization. | Doxsey SJ et al |
| 11162463 | 2000 | Genomic organization and molecular characterization of the human ninein gene. | Hong YR et al |
| 15147888 | 2004 | A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors. | Howng SL et al |
| 10934040 | 2000 | Microtubule minus-end anchorage at centrosomal and non-centrosomal sites: the role of ninein. | Mogensen MM et al |
| 11002307 | 2000 | A subset of centrosomal proteins are arranged in a tubular conformation that is reproduced during centrosome duplication. | Ou Y et al |
| 11956314 | 2002 | CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation. | Ou YY et al |
| 15190203 | 2004 | Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation. | Stillwell EE et al |
| 15087377 | 2004 | NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. | Vizmanos JL et al |
Other Information
Locus ID:
NCBI: 51199
MIM: 608684
HGNC: 14906
Ensembl: ENSG00000100503
Variants:
dbSNP: 51199
ClinVar: 51199
TCGA: ENSG00000100503
COSMIC: NIN
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38117588 | 2024 | Ninein promotes F-actin cup formation and inward phagosome movement during phagocytosis in macrophages. | 1 |
| 38117588 | 2024 | Ninein promotes F-actin cup formation and inward phagosome movement during phagocytosis in macrophages. | 1 |
| 34118594 | 2021 | β3-Endonexin interacts with ninein in vascular endothelial cells to promote angiogenesis. | 2 |
| 34118594 | 2021 | β3-Endonexin interacts with ninein in vascular endothelial cells to promote angiogenesis. | 2 |
| 30765789 | 2019 | Genetic susceptibility of common polymorphisms in NIN and SIGLEC5 to chronic periodontitis. | 8 |
| 30765789 | 2019 | Genetic susceptibility of common polymorphisms in NIN and SIGLEC5 to chronic periodontitis. | 8 |
| 25332239 | 2015 | JAK2 tyrosine kinase phosphorylates and is negatively regulated by centrosomal protein Ninein. | 10 |
| 25741725 | 2015 | Sip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability. | 28 |
| 25332239 | 2015 | JAK2 tyrosine kinase phosphorylates and is negatively regulated by centrosomal protein Ninein. | 10 |
| 25741725 | 2015 | Sip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability. | 28 |
| 23665482 | 2013 | Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. | 10 |
| 23665482 | 2013 | Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. | 10 |
| 22937743 | 2012 | Positive selection on NIN, a gene involved in neurogenesis, and primate brain evolution. | 11 |
| 23047184 | 2012 | Differential expression of centrosome-associated proteins in human brain tumors: a possible role of hNinein isoform 6 in cell differentiation. | 2 |
| 22937743 | 2012 | Positive selection on NIN, a gene involved in neurogenesis, and primate brain evolution. | 11 |
Citation
José Luis Vizmanos
NIN ninein (GSK3B interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2004-09-01
Online version: http://atlasgeneticsoncology.org/gene/176/nin
