InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEK1

Summary

InnateDB Protein

IDBP-475840.4

Last Modified

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

Gene Symbol

NEK1

Protein Name

NIMA (never in mitosis gene a)-related kinase 1

Synonyms

NY-REN-55; SRPS2; SRPS2A; SRTD6;

Species

Homo sapiens

Ensembl Protein

ENSP00000424757

InnateDB Gene

IDBG-44149 (NEK1)

Protein Structure

UniProt Annotation

Function

Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death. {ECO:0000250, ECO:0000269PubMed:20230784, ECO:0000269PubMed:21211617}.

Subcellular Localization

Nucleus {ECO:0000305PubMed:21211617}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis (By similarity). {ECO:0000250}.

Disease Associations

Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:22499340}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269PubMed:21211617}.

Tissue Specificity

High fetal expression in the brain and kidney. {ECO:0000269PubMed:21211617}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
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:0006974	cellular response to DNA damage stimulus
GO:0007067	mitotic nuclear division
GO:0010212	response to ionizing radiation
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0042384	cilium assembly

Cellular Component

GO:0000242	pericentriolar material
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF00069
PF07714

PRINTS

PR00109

PIRSF

SMART

SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt