CELSR1 - cadherin EGF LAG seven-pass G-type receptor 1 Gene

Homo sapiens

Also known as ME2; FMI2; CDHF9; HFMI2; ADGRC1; LMPHM9

Gene ID: 9620 | Gene type: protein coding

About CELSR1

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:46,361,174-46,537,620 (from NCBI)

This gene has 13 transcripts (splice variants), 227 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 10.0), skin (RPKM 8.2) and 16 other tissues.

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]

CELSR1 Products(2)

mRNA	Protein	Name
NM_001378328.1	NP_001365257.1	cadherin EGF LAG seven-pass G-type receptor 1 isoform 1 precursor
NM_014246.4	NP_055061.1	cadherin EGF LAG seven-pass G-type receptor 1 isoform 2 precursor

CELSR1 Protein Structure

Cadherin

EGF

Laminin_G_2

EGF

Laminin_G_2

Laminin_EGF

HRM

GPS

7tm_2

0
500
1000
1500
2000
2500
3014 a.a.

Protein Preferred Names

Protein Names

cadherin EGF LAG seven-pass G-type receptor 1

adhesion G protein-coupled receptor C1

Related Diseases

Diseases

Alias

Lymphatic Malformation 9

LMPHM9

Hereditary Lymphedema

Milroy Disease

Lymphangioma

Lymphatic Malformation	Lymphatic Malformations
Benign Lymphangioma	Congenital Lymphangioma
Lymphangiomas

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Myelomeningocele

Meningomyelocele

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Primary Lymphedema

Lymphedema Primary

Hypoplastic Left Heart Syndrome

Hlhs	Heart, Hypoplastic Left, Syndrome
Hypoplasia Of The Left Heart	Left Heart Hypoplasia Syndrome
Hlhs - [Hypoplastic Left Heart Syndrome]	Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome	Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia	Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Joubert Syndrome 33

JBTS33

Joubert Syndrome, Type 33

Tethered Spinal Cord Syndrome

Spinal Dysraphism	Tethered Cord Syndrome
Occult Spinal Dysraphism	Occult Spinal Dysraphism Sequence
Segmental Vertebral Anomalies	Tethered Spinal Cord Disease
Tethered Cord	Spina Bifida Occulta
Cryptomerorachischisis	Spina Bifida Occulta With Tethered Spinal Cord
Sbo - [Spina Bifida Occulta]

Spina Bifida Occulta

Meningocele

Isolated Spina Bifida	Spina Bifida
Cleft Spine	Open Spine
Rachischisis	Spinal Dysraphism
Spinal Meningocele	Congenital Meningocele

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Lymphatic Malformation 5

Meige Syndrome	Meige Disease
Meige Lymphedema	Lymphedema Praecox
Lymphedema, Late-Onset	Late-Onset Lymphedema
LMPH2	Meigs Syndrome
LMPHM5	Lymphedema, Hereditary, Ii, Formerly
Lmph2, Formerly	Hereditary Lymphedema Ii
Demons-Meigs Syndrome	Hereditary Lymphedema Type Ii
Lymphedema, Hereditary, 2	Lymphedema, Hereditary, Ii
Meige'S Disease

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities	Fetal Face Syndrome
Robinow Dwarfism	Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome	Costovertebral Segmentation Defect With Mesomelia
Covesdem Syndrome	Robinow'S Syndrome
Robinow-Silverman Syndrome

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02465	CELSR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CELSR1	VGNC	VGNC:39097
Macaca mulatta	CELSR1	VGNC	VGNC:84576
Mus musculus	CELSR1	MGD	MGI:1100883
Felis catus	CELSR1	VGNC	VGNC:60748
Bos taurus	CELSR1	VGNC	VGNC:55884
Rattus norvegicus	CELSR1	RGD	RGD:1560078
Others	CELSR1	NCBI

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