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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9620

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-175232	GL64	Inhibitor	98.80%	Unkown
HY-RS02465	CELSR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18558	Celsr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25040	Celsr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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