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Celsr1 Gene Detail
Summary
  • Symbol
    Celsr1
  • Name
    cadherin, EGF LAG seven-pass G-type receptor 1
  • Synonyms
    Adgrc1, crash, Crsh, Scy
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100883
    NCBI Gene: 12614
  • Gene Overview
    MyGene.info: CELSR1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:85898929-86033777 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 40.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1857 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100883
protein coding gene Chr15:85898758-86034217 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022200
protein coding gene Chr15:86831884-86979110 (-)
A/J MGP_AJ_G0022159
protein coding gene Chr15:83568577-83712020 (-)
AKR/J MGP_AKRJ_G0022134
protein coding gene Chr15:86037697-86180916 (-)
BALB/cJ MGP_BALBcJ_G0022165
protein coding gene Chr15:83698023-83837164 (-)
C3H/HeJ MGP_C3HHeJ_G0021935
protein coding gene Chr15:85981166-86129990 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022610
protein coding gene Chr15:90063336-90204799 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020135
protein coding gene Chr15:79888030-80025498 (-)
CAST/EiJ MGP_CASTEiJ_G0021457
protein coding gene Chr15:86774542-86947074 (-)
CBA/J MGP_CBAJ_G0021902
protein coding gene Chr15:93073578-93236931 (-)
DBA/2J MGP_DBA2J_G0022029
protein coding gene Chr15:83032526-83169674 (-)
FVB/NJ MGP_FVBNJ_G0022008
protein coding gene Chr15:82109338-82251514 (-)
LP/J MGP_LPJ_G0022100
protein coding gene Chr15:86980765-87127415 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022028
protein coding gene Chr15:97722722-97873447 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022625
protein coding gene Chr15:86048797-86201927 (-)
PWK/PhJ MGP_PWKPhJ_G0021198
protein coding gene Chr15:83033711-83188917 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021032
protein coding gene Chr15:85741047-85904062 (-)
WSB/EiJ MGP_WSBEiJ_G0021506
protein coding gene Chr15:86539543-86686358 (-)



Homology
more
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADGRC1, CDHF9, FMI2, HFMI2, ME2
  • Links
    NCBI Gene ID: 9620
    neXtProt AC: NX_Q9NYQ6
    UniProt: Q9NYQ6

  • Chr Location
    22q13.31; chr22:46360834-46537502 (-)  GRCh38.p7

Human Diseases
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  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 7 alleles in 11 genetic backgrounds
    11 phenotypes from multigenic genotypes
    43 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016028 Ensembl Gene Model | MGI Sequence Detail 134849 C57BL/6J ±  kb
    transcript ENSMUST00000016172 Ensembl | MGI Sequence Detail 10879 Not Applicable  
    polypeptide ENSMUSP00000016172 Ensembl | MGI Sequence Detail 3034 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 2
      cDNA 56
      Primer pair 1
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1861995, MGI:2387968
    References
    more
    • Summaries
      All 92
      Developmental Gene Expression 37
      Diseases 2
      Gene Ontology 16
      Phenotypes 43
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:266389 Yin W, et al., The potassium channel KCNJ13 is essential for smooth muscle cytoskeletal organization during mouse tracheal tubulogenesis. Nat Commun. 2018 Jul 19;9(1):2815

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory