Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Celsr1provided by MGI
Official Full Name: cadherin, EGF LAG seven-pass G-type receptor 1provided by MGI
Primary source: MGI:MGI:1100883
See related: Ensembl:ENSMUSG00000016028 AllianceGenome:MGI:1100883
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: Scy; Crsh; crash; Adgrc1
Summary: Predicted to enable calcium ion binding activity. Involved in establishment of planar polarity and neural tube closure. Acts upstream of or within several processes, including Rho protein signal transduction; apical protein localization; and morphogenesis of an epithelium. Located in membrane. Is expressed in several structures, including blastocyst; central nervous system; epithelium; primitive streak; and renal cortex. Human ortholog(s) of this gene implicated in hereditary lymphedema. Orthologous to human CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in colon adult (RPKM 9.9), ovary adult (RPKM 9.8) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E2; 15 40.42 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (85782959..85918424, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (85898758..86034223, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Title: CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Intercellular and intracellular cilia orientation is coordinated by CELSR1 and CAMSAP3 in oviduct multi-ciliated cells.
Title: Intercellular and intracellular cilia orientation is coordinated by CELSR1 and CAMSAP3 in oviduct multi-ciliated cells.
Celsr1 mutations significantly reduced trabecular bone mass and distal tibial cortical thickness.
Title: Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice.
type II spiral ganglion neurons make a distinctive 90 degrees turn towards the cochlear base to synapse with 10-15 outer hair cells. this axon turning event requires planar cell polarity signaling and is disrupted in Vangl2 and Celsr1 knockout mice.
Title: A non-autonomous function of the core PCP protein VANGL2 directs peripheral axon turning in the developing cochlea.
required for ureteric tree growth in early development
Title: Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.
Planar cell polarity phenotype is the cellular basis of the circling behavior in Celsr1 mutants.
Title: Celsr1 coordinates the planar polarity of vestibular hair cells during inner ear development.
Celsr1 is required for the generation of polarity at multiple levels of the mouse oviduct.
Title: Celsr1 is required for the generation of polarity at multiple levels of the mouse oviduct.
the second signal, governed by Celsr1, Fzd3, and Vangl2, coordinates polarity between cells in both radial progenitors and ependymal cells (tissue polarity).
Title: A dual role for planar cell polarity genes in ciliated cells.
Data describe a novel distribution of Celsr1 protein to the basal surface of neuroepithelial cells within both the early neural tube and a less well-defined group of ventricular zone cells at the midline of the developing spinal cord.
Title: Basal enrichment within neuroepithelia suggests novel function(s) for Celsr1 protein.
Planar cell polarity cadherin Celsr1 regulates skin hair patterning in the mouse.
Title: Planar cell polarity cadherin Celsr1 regulates skin hair patterning in the mouse.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5) 1 citation
Spontaneous (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Celsr1 (e-PCR), detects polymorphism
- UniSTS:547857

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within establishment of body hair planar orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity of embryonic epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral sprouting involved in lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neural tube closure	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within planar cell polarity pathway involved in neural tube closure	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization involved in establishment of planar polarity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within wound healing	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cadherin EGF LAG seven-pass G-type receptor 1

Names: cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila); seven-pass transmembrane receptor

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_009886.2 → NP_034016.2 cadherin EGF LAG seven-pass G-type receptor 1 precursor

See identical proteins and their annotated locations for NP_034016.2

Status: VALIDATED

Source sequence(s)

AC116764, AC139513, AF031572, BQ180311, BQ942572, CV561900

Consensus CDS

CCDS37172.1

UniProtKB/Swiss-Prot

E9QK27, O35161

Related

ENSMUSP00000016172.8, ENSMUST00000016172.10

Conserved Domains (10) summary

smart00303
Location:2422 → 2475

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2067 → 2128

HormR; Domain present in hormone receptors

cd00054
Location:1889 → 1923

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2017 → 2055

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00002
Location:2481 → 2712

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02210
Location:1734 → 1864

Laminin_G_2; Laminin G domain

pfam16489
Location:2146 → 2394

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl22855
Location:1930 → 2026

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

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_000081.7 Reference GRCm39 C57BL/6J

Range

85782959..85918424 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030248310.1 → XP_030104170.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X3

Conserved Domains (11) summary

smart00303
Location:2422 → 2475

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2067 → 2128

HormR; Domain present in hormone receptors

cd00054
Location:1889 → 1923

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2017 → 2055

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00185
Location:1951 → 2000

TNFRSF; CRD3 [structural motif]

cd15991
Location:2480 → 2733

7tmB2_CELSR1; Cadherin EGF LAG seven-pass G-type receptor 1, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam02210
Location:1734 → 1861

Laminin_G_2; Laminin G domain

pfam16489
Location:2145 → 2396

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl22855
Location:1930 → 2026

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_006520380.2 → XP_006520443.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X2

Conserved Domains (11) summary

smart00303
Location:2422 → 2475

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2067 → 2128

HormR; Domain present in hormone receptors

cd00054
Location:1889 → 1923

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2017 → 2055

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00185
Location:1951 → 2000

TNFRSF; CRD3 [structural motif]

cd15991
Location:2480 → 2733

7tmB2_CELSR1; Cadherin EGF LAG seven-pass G-type receptor 1, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam02210
Location:1734 → 1861

Laminin_G_2; Laminin G domain

pfam16489
Location:2145 → 2396

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl22855
Location:1930 → 2026

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_006520379.2 → XP_006520442.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X1

Conserved Domains (11) summary

smart00303
Location:2422 → 2475

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2067 → 2128

HormR; Domain present in hormone receptors

cd00054
Location:1889 → 1923

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2017 → 2055

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00185
Location:1951 → 2000

TNFRSF; CRD3 [structural motif]

cd15991
Location:2480 → 2733

7tmB2_CELSR1; Cadherin EGF LAG seven-pass G-type receptor 1, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam02210
Location:1734 → 1861

Laminin_G_2; Laminin G domain

pfam16489
Location:2145 → 2396

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl22855
Location:1930 → 2026

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_006520381.3 → XP_006520444.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X4

Conserved Domains (11) summary

smart00303
Location:2422 → 2475

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2067 → 2128

HormR; Domain present in hormone receptors

cd00054
Location:1889 → 1923

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2017 → 2055

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00185
Location:1951 → 2000

TNFRSF; CRD3 [structural motif]

cd15991
Location:2480 → 2733

7tmB2_CELSR1; Cadherin EGF LAG seven-pass G-type receptor 1, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam02210
Location:1734 → 1861

Laminin_G_2; Laminin G domain

pfam16489
Location:2145 → 2396

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl22855
Location:1930 → 2026

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_006520382.4 → XP_006520445.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X5

UniProtKB/TrEMBL

A0A2I3BPU9

Related

ENSMUSP00000153927.2, ENSMUST00000226840.2

Conserved Domains (10) summary

smart00303
Location:1206 → 1259

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:851 → 912

HormR; Domain present in hormone receptors

smart00179
Location:206 → 240

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:673 → 707

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:801 → 839

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:243 → 426

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd14964
Location:1266 → 1291

7tm_GPCRs; TM helix 1 [structural motif]

pfam02210
Location:518 → 645

Laminin_G_2; Laminin G domain

pfam16489
Location:929 → 1180

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl28897
Location:1264 → 1517

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036159109.1 → XP_036015002.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X6

Conserved Domains (3) summary

cd11304
Location:808 → 903

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:1379 → 1414

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1459 → 1642

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...