Entity Details

Primary name CELSR1
Entity type gene
Source Source Link

Details

PrimaryID9620
RefseqGeneNG_030466
SymbolCELSR1
Namecadherin EGF LAG seven-pass G-type receptor 1
Chromosome22
Location22q13.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCELR1_HUMAN

GO terms

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GOName
GO:0001736 establishment of planar polarity
GO:0001764 neuron migration
GO:0001843 neural tube closure
GO:0004930 G protein-coupled receptor activity
GO:0005509 calcium ion binding
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007266 Rho protein signal transduction
GO:0007417 central nervous system development
GO:0016021 integral component of membrane
GO:0032956 regulation of actin cytoskeleton organization
GO:0042249 establishment of planar polarity of embryonic epithelium
GO:0045176 apical protein localization
GO:0048105 establishment of body hair planar orientation
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060488 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060489 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060490 lateral sprouting involved in lung morphogenesis
GO:0090251 protein localization involved in establishment of planar polarity
GO:0098609 cell-cell adhesion

Diseases

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Disease IDSourceNameDescription
182940 OMIMNeural tube defects (NTD)Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. The disease may be caused by variants affecting the gene represented in this entry.