Homo sapiens Protein: NIN | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-6135.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NIN | ||||||||||||||||||||||
Protein Name | ninein (GSK3B interacting protein) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000245441 | ||||||||||||||||||||||
InnateDB Gene | IDBG-6133 (NIN) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules. {ECO:0000269PubMed:15190203}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:11004522, ECO:0000269PubMed:11956314, ECO:0000269PubMed:12403812, ECO:0000269PubMed:12927815, ECO:0000269PubMed:15190203}. Note=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. | ||||||||||||||||||||||
Disease Associations | Seckel syndrome 7 (SCKL7) [MIM:614851]: 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 mental retardation. {ECO:0000269PubMed:22933543}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5. {ECO:0000269PubMed:11004522, ECO:0000269PubMed:11162463}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR002048
EF-hand domain IPR010978 tRNA-binding arm |
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PFAM |
PF00036
PF13202 PF13405 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00054
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q8N4C6 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8N4C6 | ||||||||||||||||||||||
TrEMBL | H7C162 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 51199 | ||||||||||||||||||||||
UniGene | Hs.605176 | ||||||||||||||||||||||
RefSeq | NP_065972 | ||||||||||||||||||||||
HUGO | HGNC:14906 | ||||||||||||||||||||||
OMIM | 608684 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 09785 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB046785 AF186776 AF212162 AF223937 AF223938 AF223939 AF302773 AK027054 AL133485 AL606834 AY027794 AY027795 AY027796 BC034708 BC065521 BC090932 | ||||||||||||||||||||||
GenPept | AAF23015 AAG17027 AAG33512 AAH34708 AAH65521 AAH90932 AAK00628 AAK00629 AAK00630 AAK27375 AAK27376 AAK27377 BAB13391 BAB15640 | ||||||||||||||||||||||