Nek8 NIMA (never in mitosis gene a)-related expressed kinase 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nek8provided by MGI
Official Full Name: NIMA (never in mitosis gene a)-related expressed kinase 8provided by MGI
Primary source: MGI:MGI:1890646
See related: Ensembl:ENSMUSG00000017405 AllianceGenome:MGI:1890646
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: jck; b2b1449Clo; 4632401F23Rik
Summary: This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary adult (RPKM 10.2), adrenal adult (RPKM 9.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 46.74 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (78056932..78067501, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (78166106..78176695, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Title: Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
Title: High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
NEK8 plays a critical role in replication fork stability through its regulation of the DNA repair and replication fork protection protein RAD51.
Title: NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.
NEK8-depleted inner medullary collecting duct cells exhibited a defective response to fluid shear.
Title: Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
Nek8 acts downstream of Inv function
Title: The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish.
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
Title: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
Defects in ciliary localization of Nek8 is associated with polycystic kidney diseases
Title: Defects in ciliary localization of Nek8 is associated with cystogenesis.
interacts with the signal transduction pathways of the polycystins and may lead to cystogenesis by altering the structure and function of cilia in the distal nephron
Title: Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.
Nek8 and Pkd1 genes function in a common pathway to regulate cystogenesis. Moreover, compound Pkd1 and Nek8 heterozygous adult mice develop a more aggressive cystic disease than animals with a mutation in either gene alone.
Title: Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.
cross-species analysis between zebrafish and mouse demonstrates taht NEK8 has a role in development of pronephric cysts
Title: A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (1)
Spontaneous (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nek8 (e-PCR), detects polymorphism
- UniSTS:527446

NoName (e-PCR)
- UniSTS:236650

D11Seg6 (e-PCR), detects polymorphism
- UniSTS:141822

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in animal organ morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hippo signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of hippo signaling	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in ciliary base	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary inversin compartment	IDA Inferred from Direct Assay more info	PubMed
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine/threonine-protein kinase Nek8

Names: NIMA-related expressed kinase 8; juvenile cystic kidney; never in mitosis A-related kinase 8; nimA-related protein kinase 8

NP_543125.1

EC 2.7.11.1

XP_006532246.1

EC 2.7.11.1

XP_006532247.1

EC 2.7.11.1

XP_006532248.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_080849.3 → NP_543125.1 serine/threonine-protein kinase Nek8

See identical proteins and their annotated locations for NP_543125.1

Status: REVIEWED

Source sequence(s)

AF407579, BB646522, BC070457

Consensus CDS

CCDS25091.1

UniProtKB/Swiss-Prot

Q3U498, Q91ZR4, Q9D685

Related

ENSMUSP00000017549.7, ENSMUST00000017549.13

Conserved Domains (4) summary

smart00220
Location:4 → 256

S_TKc; Serine/Threonine protein kinases, catalytic domain

COG5184
Location:318 → 663

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd08220
Location:3 → 258

STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8

pfam00415
Location:585 → 634

RCC1; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

78056932..78067501 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532184.5 → XP_006532247.1 serine/threonine-protein kinase Nek8 isoform X2

Conserved Domains (2) summary

COG5184
Location:318 → 663

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd08220
Location:3 → 258

STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8
XM_006532185.5 → XP_006532248.1 serine/threonine-protein kinase Nek8 isoform X3

Conserved Domains (2) summary

COG5184
Location:274 → 619

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cl21453
Location:3 → 214

PKc_like; Protein Kinases, catalytic domain
XM_006532183.5 → XP_006532246.1 serine/threonine-protein kinase Nek8 isoform X1

Conserved Domains (2) summary

COG5184
Location:318 → 663

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd08220
Location:3 → 258

STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8