InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CELSR1

Summary

InnateDB Protein

IDBP-12145.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CELSR1

Protein Name

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

Synonyms

CDHF9; FMI2; HFMI2; ME2;

Species

Homo sapiens

Ensembl Protein

ENSP00000262738

InnateDB Gene

IDBG-12143 (CELSR1)

Protein Structure

UniProt Annotation

Function

Receptor that may have an important role in cell/cell signaling during nervous system formation.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Neural tube defects (NTD) [MIM:182940]: 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. {ECO:0000269PubMed:22095531}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004930	G-protein coupled receptor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0046983	protein dimerization activity

Biological Process

GO:0001736	establishment of planar polarity
GO:0001764	neuron migration
GO:0001843	neural tube closure
GO:0001942	hair follicle development
GO:0007156	homophilic cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007218	neuropeptide signaling pathway
GO:0007266	Rho protein signal transduction
GO:0007417	central nervous system development
GO:0007626	locomotory behavior
GO:0009952	anterior/posterior pattern specification
GO:0032956	regulation of actin cytoskeleton organization
GO:0042060	wound healing
GO:0042249	establishment of planar polarity of embryonic epithelium
GO:0042472	inner ear morphogenesis
GO:0045176	apical protein localization
GO:0048105	establishment of body hair planar orientation
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:0090179	planar cell polarity pathway involved in neural tube closure
GO:0090251	protein localization involved in establishment of planar polarity

Cellular Component

GO:0005634	nucleus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000203 GPS motif
IPR000742 Epidermal growth factor-like domain
IPR000832 GPCR, family 2, secretin-like
IPR001791 Laminin G domain
IPR001879 GPCR, family 2, extracellular hormone receptor domain
IPR001881 EGF-like calcium-binding domain
IPR002049 EGF-like, laminin
IPR002126 Cadherin
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR015919 Cadherin-like
IPR017981 GPCR, family 2-like
IPR022624 Domain of unknown function DUF3497

PFAM