Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nek1provided by MGI
Official Full Name: NIMA (never in mitosis gene a)-related expressed kinase 1provided by MGI
Primary source: MGI:MGI:97303
See related: Ensembl:ENSMUSG00000031644 AllianceGenome:MGI:97303
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: kat; D8Ertd790e
Summary: Enables 14-3-3 protein binding activity. Involved in regulation of DNA damage checkpoint. Acts upstream of or within several processes, including DNA damage response; response to ionizing radiation; and spermatogenesis. Located in centrosome and nucleus. Is expressed in several structures, including ganglia; gut; hemolymphoid system gland; metanephros; and reproductive system. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 24; asphyxiating thoracic dystrophy; orofaciodigital syndrome II; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 7.0), frontal lobe adult (RPKM 6.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.1; 8 30.91 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (61446184..61584383)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (60993157..61131349)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Title: ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
Title: NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
NEK1 phosphorylates PP1gamma, leading to the dephosphorylation of WAPL, which, in turn, results in its retention on chromosome cores to promote loss of cohesion at the end of prophase I in mammals.
Title: Cohesin Removal along the Chromosome Arms during the First Meiotic Division Depends on a NEK1-PP1γ-WAPL Axis in the Mouse.
Reduction in ADD1 protein in NEK1 mutant mice is associated with hyperphosphorylation of ADD1, thereby preventing the interaction with MYO10 during meiotic spindle formation
Title: NIMA-related kinase 1 (NEK1) regulates meiosis I spindle assembly by altering the balance between α-Adducin and Myosin X.
Nek1 is detectable in all murine tissues but its expression in wild type and kat2J heterozygous kidneys decrease as the kidneys mature. In the embryonic kidney, Nek1 expression is most prominent in cells that will become podocytes and proximal tubules.
Title: Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease.
results demonstrate that Nek1 is important for proper checkpoint control and characterize for the first time a DNA damage response that does not directly involve one of the known upstream mediator kinases, ATM or ATR
Title: Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR.
data suggest that TAZ and Nek1 constitute a negative feedback loop linked through phosphorylation and ubiquitination and that the interaction of Nek1 and TAZ maintain polycystin 2 at the level needed for proper ciliogenesis
Title: Nek1 and TAZ interact to maintain normal levels of polycystin 2.
NEK1 is required for the maintenance of genome stability by acting at multiple junctures, including control of chromosome stability
Title: Mutation of NIMA-related kinase 1 (NEK1) leads to chromosome instability.
NEK1 is a candidate to transduce messages from the ciliary-basal body region to the regulation of nuclear gene expression.
Title: The NIMA-related kinase NEK1 cycles through the nucleus.
These data show that Nek1 is important for efficient DNA damage checkpoint control and for proper DNA damage repair.
Title: Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (8)
Spontaneous (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8Ertd124e (e-PCR), detects polymorphism
- UniSTS:167553

D8Ertd790e (e-PCR), detects polymorphism
- UniSTS:167595

28.MMHAP96FLB4.seq (e-PCR)
- UniSTS:123839

PMC26643P1 (e-PCR)
- UniSTS:272342

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IDA Inferred from Direct Assay more info	PubMed
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 kinase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine 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
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA damage checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed
located_in pericentriolar material	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serine/threonine-protein kinase Nek1

Names: NIMA-related kinase 1; NY-REN-55 antigen; Nek1 serine/threonine- and tyrosine-specific protein kinase; kidney, anemia and testis; never in mitosis A-related kinase 1; nimA-related protein kinase 1

NP_001280566.1

EC 2.7.11.1

NP_001280567.1

EC 2.7.11.1

NP_001280568.1

EC 2.7.11.1

NP_001401155.1

EC 2.7.11.1

NP_001401156.1

EC 2.7.11.1

NP_001401157.1

EC 2.7.11.1

NP_001401158.1

EC 2.7.11.1

NP_001401159.1

EC 2.7.11.1

NP_780298.2

EC 2.7.11.1

XP_030099200.1

EC 2.7.11.1

XP_036009687.1

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_001293637.1 → NP_001280566.1 serine/threonine-protein kinase Nek1 isoform 1

See identical proteins and their annotated locations for NP_001280566.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC159302, AK135564, AY850065, BC070443, CX237035

Consensus CDS

CCDS85541.1

UniProtKB/TrEMBL

B2RXX0, Q69Z74

Related

ENSMUSP00000147809.2, ENSMUST00000211672.2

Conserved Domains (2) summary

smart00220
Location:4 → 258

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd08218
Location:3 → 258

STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
NM_001293638.1 → NP_001280567.1 serine/threonine-protein kinase Nek1 isoform 2

See identical proteins and their annotated locations for NP_001280567.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AC159302, AK135564, AY850065, BC070443, CX237035

Consensus CDS

CCDS80879.1

UniProtKB/TrEMBL

B7ZWK0, Q69Z74

Related

ENSMUSP00000113932.2, ENSMUST00000120689.8

Conserved Domains (2) summary

smart00220
Location:4 → 258

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd08218
Location:3 → 258

STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
NM_001293639.1 → NP_001280568.1 serine/threonine-protein kinase Nek1 isoform 4

See identical proteins and their annotated locations for NP_001280568.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks three alternate in-frame exons, compared to variant 1. The encoded protein (isoform 4) is shorter, compared to isoform 1.

Source sequence(s)

AK135564, AY850065, BC070443, CX237035

Consensus CDS

CCDS85542.1

UniProtKB/TrEMBL

B2RXQ4, Q69Z74

Related

ENSMUSP00000147258.2, ENSMUST00000211256.2

Conserved Domains (2) summary

smart00220
Location:4 → 258

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd08218
Location:3 → 258

STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
NM_001414226.1 → NP_001401155.1 serine/threonine-protein kinase Nek1 isoform 5

Status: VALIDATED

Source sequence(s)

AC134339, AC159302
NM_001414227.1 → NP_001401156.1 serine/threonine-protein kinase Nek1 isoform 6

Status: VALIDATED

Source sequence(s)

AC134339, AC159302
NM_001414228.1 → NP_001401157.1 serine/threonine-protein kinase Nek1 isoform 7

Status: VALIDATED

Source sequence(s)

AC134339, AC159302
NM_001414229.1 → NP_001401158.1 serine/threonine-protein kinase Nek1 isoform 8

Status: VALIDATED

Source sequence(s)

AC134339, AC159302
NM_001414230.1 → NP_001401159.1 serine/threonine-protein kinase Nek1 isoform 9

Status: VALIDATED

Source sequence(s)

AC134339, AC159302
NM_175089.4 → NP_780298.2 serine/threonine-protein kinase Nek1 isoform 3

See identical proteins and their annotated locations for NP_780298.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.

Source sequence(s)

AK135564, AY850065, BC070443, CX237035

Consensus CDS

CCDS40347.1

UniProtKB/Swiss-Prot

P51954

UniProtKB/TrEMBL

Q69Z74

Related

ENSMUSP00000034065.8, ENSMUST00000034065.14

Conserved Domains (2) summary

smart00220
Location:4 → 258

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd08218
Location:3 → 258

STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

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_000074.7 Reference GRCm39 C57BL/6J

Range

61446184..61584383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153794.1 → XP_036009687.1 serine/threonine-protein kinase Nek1 isoform X7

Conserved Domains (1) summary

cd08218
Location:3 → 258

STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
XM_030243340.2 → XP_030099200.1 serine/threonine-protein kinase Nek1 isoform X5

UniProtKB/TrEMBL

Q69Z74

Conserved Domains (1) summary

cl21453
Location:1 → 179

PKc_like; Protein Kinases, catalytic domain