Homo sapiens Protein: NIN
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.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0051642 centrosome localization
Cellular Component
GO:0000922 spindle pole
GO:0005730 nucleolus
GO:0005813 centrosome
GO:0005874 microtubule
Protein Structure and Domains
PDB ID
InterPro IPR002048 EF-hand domain
IPR010978 tRNA-binding arm
PFAM PF00036
PF13202
PF13405
PRINTS
PIRSF
SMART SM00054
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