InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEK8

Summary

InnateDB Protein

IDBP-37577.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NEK8

Protein Name

NIMA (never in mitosis gene a)- related kinase 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000268766

InnateDB Gene

IDBG-37575 (NEK8)

Protein Structure

UniProt Annotation

Function

Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway. {ECO:0000250, ECO:0000269PubMed:23418306}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton. Cell projection, cilium {ECO:0000250}. Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.

Disease Associations

Nephronophthisis 9 (NPHP9) [MIM:613824]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269PubMed:18199800}. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal-hepatic-pancreatic dysplasia 2 (RHPD2) [MIM:615415]: A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. {ECO:0000269PubMed:23418306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma. {ECO:0000269PubMed:15019993}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [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:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0046872	metal ion binding

Biological Process

GO:0006468	protein phosphorylation
GO:0009887	organ morphogenesis
GO:0035330	regulation of hippo signaling

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0072372	primary cilium

Protein Structure and Domains

PDB ID

InterPro

IPR000408 Regulator of chromosome condensation, RCC1
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF00415
PF00069
PF07714

PRINTS

PR00633
PR00109

PIRSF

SMART

SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt