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Nek1 Gene Detail
Summary
  • Symbol
    Nek1
  • Name
    NIMA (never in mitosis gene a)-related expressed kinase 1
  • Synonyms
    D8Ertd790e, kat, kidney, anemia and testis
  • Feature Type
    protein coding gene
  • IDs
    MGI:97303
    NCBI Gene: 18004
  • Gene Overview
    MyGene.info: NEK1
Location & Maps
more
  • Sequence Map
    Chr8:60993195-61131346 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      138152 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NEK1, NIMA related kinase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NEK1, NIMA related kinase 1
    Orthology source: HomoloGene
  • Synonyms
    NY-REN-55, SRPS2, SRPS2A, SRTD6
  • Links
    NCBI Gene ID: 4750
    neXtProt AC: NX_Q96PY6

  • Chr Location
    4q33; chr4:169393270-169612629 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 14376
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: NEK1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nek1 mouse models; 1 with human NEK1 associations

Human Disease Mouse Models
       Polycystic Kidney Disease, Autosomal Recessive; ARPKD   OMIM: 263200 View 2 models
       Short-Rib Thoracic Dysplasia 6 with or without Polydactyly; SRTD6   OMIM: 263520
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 2 alleles in 5 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Spontaneous
    2
  • Targeted
    1
  • Genomic Mutations
    1 involving Nek1
  • Incidental Mutations
Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031430 VEGA Gene Model | MGI Sequence Detail 138152 C57BL/6J ±  kb
transcript OTTMUST00000077869 VEGA | MGI Sequence Detail 5478 Not Applicable  
polypeptide OTTMUSP00000041279 VEGA | MGI Sequence Detail 1231 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    379 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    cDNA 28
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12816, MGD-MRK-38304, MGI:109259, MGI:1289217
References
more
  • Summaries
    All 47
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 9
    Phenotypes 11
  • Earliest
    J:2376 Letwin K, et al., A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. EMBO J. 1992 Oct;11(10):3521-31
  • Latest
    J:215391 Chen Y, et al., Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease. J Biomed Sci. 2014 Jul 17;21(1):63

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory