CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELSR1provided by HGNC
Official Full Name: cadherin EGF LAG seven-pass G-type receptor 1provided by HGNC
Primary source: HGNC:HGNC:1850
See related: Ensembl:ENSG00000075275 MIM:604523; AllianceGenome:HGNC:1850
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ME2; FMI2; CDHF9; HFMI2; ADGRC1; LMPHM9
Summary: The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney (RPKM 10.0), skin (RPKM 8.2) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.31

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (46361174..46537620, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (46845906..47025248, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (46757071..46933517, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
Title: De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain.
Title: CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain.
Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion.
Title: Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion.
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.
Title: Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.
The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Title: The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
Title: Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
CELSR1 variants are associated with partial epilepsy of childhood.
Title: CELSR1 variants are associated with partial epilepsy of childhood.
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.
A CELSR1 variant in a patient with pulmonary arterial hypertension.
Title: A CELSR1 variant in a patient with pulmonary arterial hypertension.
circCELSR1 facilitates ovarian cancer proliferation and metastasis by sponging miR-598 to activate BRD4 signals.
Title: circCELSR1 facilitates ovarian cancer proliferation and metastasis by sponging miR-598 to activate BRD4 signals.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lymphatic malformation 9 MedGen: C5543365 OMIM: 619319 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93715 (e-PCR)
- UniSTS:92944

AL031648 (e-PCR)
- UniSTS:11291

SHGC-33921 (e-PCR)
- UniSTS:50212

G65456 (e-PCR)
- UniSTS:166500

RH8140 (e-PCR)
- UniSTS:84844

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within apical protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within establishment of body hair planar orientation	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of planar polarity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within establishment of planar polarity of embryonic epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lateral sprouting involved in lung morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron migration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein localization involved in establishment of planar polarity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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

Names: adhesion G protein-coupled receptor C1; cadherin family member 9; cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila); flamingo homolog 2; protocadherin flamingo 2

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.

Genomic

NG_030466.2 RefSeqGene

Range

4551..180997

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378328.1 → NP_001365257.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AL021392, AL031588, AL031597

Consensus CDS

CCDS93179.1

UniProtKB/TrEMBL

A0A6I8PRU0

Related

ENSP00000501367.2, ENST00000674500.2

Conserved Domains (11) summary

smart00303
Location:2407 → 2460

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:793 → 888

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2052 → 2113

HormR; Domain present in hormone receptors

cd00054
Location:1407 → 1441

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:2002 → 2040

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:1444 → 1627

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 ...

pfam02210
Location:1719 → 1849

Laminin_G_2; Laminin G domain

pfam16489
Location:2130 → 2381

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cd14964
Location:2467 → 2492

7tm_GPCRs; TM helix 1 [structural motif]

cl22855
Location:1881 → 2011

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

cl28897
Location:2465 → 2718

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_014246.4 → NP_055061.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_055061.1

Status: REVIEWED

Source sequence(s)

AF231024, AL021392

Consensus CDS

CCDS14076.1

UniProtKB/Swiss-Prot

O95722, Q5TH47, Q9BWQ5, Q9NYQ6, Q9Y506, Q9Y526

Related

ENSP00000262738.3, ENST00000262738.9

Conserved Domains (9) summary

smart00303
Location:2407 → 2460

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:793 → 888

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2052 → 2113

HormR; Domain present in hormone receptors

cd00054
Location:1407 → 1441

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:2002 → 2040

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:1444 → 1627

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:2466 → 2697

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02210
Location:1719 → 1849

Laminin_G_2; Laminin G domain

pfam16489
Location:2131 → 2379

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

46361174..46537620 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441624.1 → XP_047297580.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X1
XM_011530555.3 → XP_011528857.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X4

Conserved Domains (8) summary

smart00303
Location:1206 → 1259

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:851 → 912

HormR; Domain present in hormone receptors

cd00054
Location:163 → 198

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 ...

pfam00002
Location:1265 → 1496

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02210
Location:518 → 648

Laminin_G_2; Laminin G domain

pfam16489
Location:930 → 1178

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain
XM_011530554.3 → XP_011528856.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X3

Conserved Domains (8) summary

smart00303
Location:1238 → 1291

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:883 → 944

HormR; Domain present in hormone receptors

cd00054
Location:195 → 230

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:833 → 871

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:275 → 458

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:1297 → 1528

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02210
Location:550 → 680

Laminin_G_2; Laminin G domain

pfam16489
Location:962 → 1210

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain
XM_011530553.2 → XP_011528855.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X2

Conserved Domains (6) summary

cd11304
Location:793 → 888

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:1364 → 1399

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:2002 → 2040

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:1444 → 1627

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 ...

pfam02210
Location:1719 → 1849

Laminin_G_2; Laminin G domain

cl02422
Location:2052 → 2084

HRM; Hormone receptor domain

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

46845906..47025248 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326174.1 → XP_054182149.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X1
XM_054326177.1 → XP_054182152.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X4
XM_054326176.1 → XP_054182151.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X3
XM_054326175.1 → XP_054182150.1 cadherin EGF LAG seven-pass G-type receptor 1 isoform X2