NIN
Developmental stage
In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase and reappears in telophase.
Domain
There is conflicting information regarding the regions required for centrosomal localization. One study shows that the region 1601-1682 is necessary and sufficient for targeting to the centrosome (PubMed:12927815). Another study shows that a separate region, 1291-1575, is important for centrosomal localization (PubMed:15190203). However, a third study shows that the coiled-coil region (373-1885) is not sufficient for centrosomal localization and instead localizes to cytoplasmic speckles (By similarity). The observed differences might be due to oligomerization of the longer coiled-coil domain-containing sequence, which would mask the shorter centrosomal targeting sequences (By similarity).
The N-terminal domain is important for targeting to the mother centriole, although it is not sufficient by itself for centrosomal localization.
Function
Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).
Involvement in disease
Seckel syndrome 7
SCKL7
A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B.
Tissue Specificity
Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- 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. Localizes to the subdistal appendage region of the centriole in a DCTN1-dependent manner.
- Isoform 6
- Cytoplasm
- Seems to have a dominant-negative effect on localization of other isoforms, promoting their dissociation from the centrosome.
Alternative names
KIAA1565, NIN, Ninein, hNinein, Glycogen synthase kinase 3 beta-interacting protein, GSK3B-interacting protein