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Cilk1 Gene Detail
Summary
  • Symbol
    Cilk1
  • Name
    ciliogenesis associated kinase 1
  • Synonyms
    2210420N10Rik, Ick
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934157
    NCBI Gene: 56542
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:78016474-78079389 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 43.56 cM, cytoband E1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1937 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1934157
 protein coding gene Chr9:78016425-78079396 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035058
 protein coding gene Chr9:78576463-78642309 (+)
A/J MGP_AJ_G0035039
 protein coding gene Chr9:75835450-75898671 (+)
AKR/J MGP_AKRJ_G0034968
 protein coding gene Chr9:77639363-77702098 (+)
BALB/cJ MGP_BALBcJ_G0035031
 protein coding gene Chr9:75516391-75579481 (+)
C3H/HeJ MGP_C3HHeJ_G0034740
 protein coding gene Chr9:78157432-78221434 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035549
 protein coding gene Chr9:80687733-80750849 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032460
 protein coding gene Chr9:75071019-75135484 (+)
CAST/EiJ MGP_CASTEiJ_G0034062
 protein coding gene Chr9:78497462-78564809 (+)
CBA/J MGP_CBAJ_G0034712
 protein coding gene Chr9:83457045-83521857 (+)
DBA/2J MGP_DBA2J_G0034872
 protein coding gene Chr9:75496973-75560168 (+)
FVB/NJ MGP_FVBNJ_G0034814
 protein coding gene Chr9:74743430-74806186 (+)
LP/J MGP_LPJ_G0034953
 protein coding gene Chr9:78807576-78870515 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034855
 protein coding gene Chr9:84693677-84756412 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035572
 protein coding gene Chr9:77814614-77879602 (+)
PWK/PhJ MGP_PWKPhJ_G0033766
 protein coding gene Chr9:75728598-75793636 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033599
 protein coding gene Chr9:78044121-78110328 (+)
WSB/EiJ MGP_WSBEiJ_G0034174
 protein coding gene Chr9:77744396-77807080 (+)



Homology
more
  • Human Ortholog
    CILK1, ciliogenesis associated kinase 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CILK1, ciliogenesis associated kinase 1
  • Synonyms
    ECO, EJM10, hICK, ICK, LCK2, MRK
  • Links
    NCBI Gene ID: 22858
    neXtProt AC: NX_Q9UPZ9
    UniProt: Q9UPZ9

  • Chr Location
    6p12.1; chr6:53001279-53061824 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cilk1 mouse models; 2 with human CILK1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit abnormal primary cilium morphology and Shh signaling during limb digit patterning, peripheral edema, cleft palate, hydrocephalus, polydactyly, delayed skeletal development, and embryonic lethality at late stages of gestation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    825
  • Tissues
    45
  • cDNA Data
    76
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000009828 Ensembl Gene Model | MGI Sequence Detail 62916 C57BL/6J ±  kb
    transcript ENSMUST00000118869 Ensembl | MGI Sequence Detail 2540 Not Applicable  
    polypeptide ENSMUSP00000112961 Ensembl | MGI Sequence Detail 629 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 77
      cDNA 77

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1917387, MGI:2143145, MGI:6369098
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 13
      Phenotypes 28
    • Earliest
      J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
    • Latest
      J:353279 Limerick A, et al., An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling. Cells. 2024 Jul 26;13(15)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory