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Aliases for CELSR1 Gene

Aliases for CELSR1 Gene

  • Cadherin EGF LAG Seven-Pass G-Type Receptor 1 2 3
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 1 2 5
  • Adhesion G Protein-Coupled Receptor C1 2 3
  • Cadherin Family Member 9 3 4
  • Flamingo Homolog 2 3 4
  • HFMI2 3 4
  • CDHF9 3 4
  • FMI2 3 4
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 1, Flamingo (Drosophila) Homolog 2
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 1 (Flamingo Homolog, Drosophila) 3
  • Flamingo Homolog 2 (Drosophila) 2
  • Protocadherin Flamingo 2 3
  • ADGRC1 3
  • ME2 3

External Ids for CELSR1 Gene

Previous GeneCards Identifiers for CELSR1 Gene

  • GC22M043322
  • GC22M044968
  • GC22M045077
  • GC22M046755
  • GC22M029700

Summaries for CELSR1 Gene

Entrez Gene Summary for CELSR1 Gene

  • 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]

GeneCards Summary for CELSR1 Gene

CELSR1 (Cadherin EGF LAG Seven-Pass G-Type Receptor 1) is a Protein Coding gene. Diseases associated with CELSR1 include Neural Tube Defects and Myelomeningocele. Among its related pathways are GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is FAT4.

UniProtKB/Swiss-Prot for CELSR1 Gene

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

Gene Wiki entry for CELSR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELSR1 Gene

Genomics for CELSR1 Gene

Regulatory Elements for CELSR1 Gene

Enhancers for CELSR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CELSR1 on UCSC Golden Path with GeneCards custom track

Promoters for CELSR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CELSR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CELSR1 Gene

46,360,834 bp from pter
46,537,502 bp from pter
176,669 bases
Minus strand

Genomic View for CELSR1 Gene

Genes around CELSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELSR1 Gene

Proteins for CELSR1 Gene

  • Protein details for CELSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cadherin EGF LAG seven-pass G-type receptor 1
    Protein Accession:
    Secondary Accessions:
    • O95722
    • Q5TH47
    • Q9BWQ5
    • Q9Y506
    • Q9Y526

    Protein attributes for CELSR1 Gene

    3014 amino acids
    Molecular mass:
    329486 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CELSR1 Gene


neXtProt entry for CELSR1 Gene

Proteomics data for CELSR1 Gene at MOPED

Post-translational modifications for CELSR1 Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn 403, Asn 546, Asn 634, Asn 778, Asn 1114, Asn 1139, Asn 1213, Asn 1249, Asn 1259, Asn 1287, Asn 1576, Asn 1623, Asn 1640, Asn 1979, Asn 2103, Asn 2122, Asn 2257, Thr 2306, Thr 2307, Thr 2310, Thr 2311, Asn 2415, Asn 2437, and Asn 2523
  • Modification sites at PhosphoSitePlus

Other Protein References for CELSR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CELSR1 Gene

Domains & Families for CELSR1 Gene

Suggested Antigen Peptide Sequences for CELSR1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 9 cadherin domains.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
  • Contains 9 cadherin domains.
  • Contains 8 EGF-like domains.
  • Contains 1 GPS domain.
  • Contains 1 laminin EGF-like domain.
  • Contains 2 laminin G-like domains.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
genes like me logo Genes that share domains with CELSR1: view

Function for CELSR1 Gene

Molecular function for CELSR1 Gene

GENATLAS Biochemistry:
neural specific receptor,expressed in the brain,G protein coupled receptor superfamily,deleted in the 22qter-syndrome (see DDGSF)
UniProtKB/Swiss-Prot Function:
Receptor that may have an important role in cell/cell signaling during nervous system formation.
genes like me logo Genes that share phenotypes with CELSR1: view

Animal Models for CELSR1 Gene

MGI Knock Outs for CELSR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CELSR1

miRNA for CELSR1 Gene

miRTarBase miRNAs that target CELSR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELSR1 Gene

Localization for CELSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELSR1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for CELSR1 Gene COMPARTMENTS Subcellular localization image for CELSR1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CELSR1 Gene

Pathways & Interactions for CELSR1 Gene

SuperPathways for CELSR1 Gene

Superpath Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with CELSR1: view

Pathways by source for CELSR1 Gene

1 BioSystems pathway for CELSR1 Gene

Gene Ontology (GO) - Biological Process for CELSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0001942 hair follicle development IEA --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,NAS 9339365
genes like me logo Genes that share ontologies with CELSR1: view

No data available for SIGNOR curated interactions for CELSR1 Gene

Drugs & Compounds for CELSR1 Gene

No Compound Related Data Available

Transcripts for CELSR1 Gene

Unigene Clusters for CELSR1 Gene

Cadherin, EGF LAG seven-pass G-type receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CELSR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37
SP1: - -

Relevant External Links for CELSR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CELSR1 Gene

mRNA expression in normal human tissues for CELSR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELSR1 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.3), Skin - Not Sun Exposed (Suprapubic) (x5.1), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for CELSR1 Gene

This gene is overexpressed in Serum (47.6) and Cervix (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CELSR1 Gene

SOURCE GeneReport for Unigene cluster for CELSR1 Gene Hs.252387

genes like me logo Genes that share expression patterns with CELSR1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CELSR1 Gene

Orthologs for CELSR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELSR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia CELSR1 35
  • 85.48 (n)
  • 83.95 (a)
  • 83 (a)
(Mus musculus)
Mammalia Celsr1 35
  • 81.41 (n)
  • 81.8 (a)
Celsr1 16
Celsr1 36
  • 81 (a)
(Pan troglodytes)
Mammalia CELSR1 35
  • 97.7 (n)
  • 97.49 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Celsr1 35
  • 80.74 (n)
  • 81.15 (a)
(Bos Taurus)
Mammalia CELSR1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia CELSR1 36
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia CELSR1 36
  • 66 (a)
(Gallus gallus)
Aves CELSR1 35
  • 73.7 (n)
  • 73.01 (a)
  • 72 (a)
(Anolis carolinensis)
Reptilia CELSR1 36
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia celsr1 35
  • 67.39 (n)
  • 69.56 (a)
(Danio rerio)
Actinopterygii celsr1a 35
  • 65.23 (n)
  • 64.65 (a)
celsr1a 36
  • 63 (a)
celsr1b 36
  • 58 (a)
OTTDARG00000019147 36
  • 24 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cad89D 37
  • 30 (a)
CadN2 37
  • 24 (a)
shg 37
  • 23 (a)
stan 37
  • 40 (a)
stan 35
  • 51.17 (n)
  • 43.22 (a)
stan 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRSTN 35
  • 51.12 (n)
  • 43.83 (a)
(Caenorhabditis elegans)
Secernentea fmi-1 35
  • 40.82 (n)
  • 32.13 (a)
fmi-1 36
  • 28 (a)
Species with no ortholog for CELSR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CELSR1 Gene

Gene Tree for CELSR1 (if available)
Gene Tree for CELSR1 (if available)

Paralogs for CELSR1 Gene

Paralogs for CELSR1 Gene

(13) SIMAP similar genes for CELSR1 Gene using alignment to 4 proteins: Pseudogenes for CELSR1 Gene

genes like me logo Genes that share paralogs with CELSR1: view

Variants for CELSR1 Gene

Sequence variations from dbSNP and Humsavar for CELSR1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs4823850 - 46,535,180(+) GGGGC(C/G)AGCCG reference, missense
rs4823561 - 46,533,795(+) GATGC(A/G)GCCGA reference, missense
rs4044210 - 46,390,418(+) GGAGA(C/T)GGTGG downstream-variant-500B, reference, missense
rs6007897 - 46,384,624(+) GATGG(C/T)GTCGA reference, missense
rs34141466 - 46,535,412(+) CTGAA(C/T)GTGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CELSR1 Gene

Variant ID Type Subtype PubMed ID
nsv829281 CNV Gain 20364138
dgv5013n71 CNV Loss 21882294
nsv829293 CNV Gain 20364138
dgv5014n71 CNV Loss 21882294
nsv471214 CNV Loss 18288195
nsv834225 CNV Loss 17160897
dgv5015n71 CNV Loss 21882294
nsv3652 CNV Insertion 18451855
nsv915359 CNV Loss 21882294
nsv459906 CNV Loss 19166990
nsv915360 CNV Loss 21882294
nsv3653 CNV Insertion 18451855
esv1010472 CNV Insertion 20482838
nsv513595 CNV Insertion 21212237
esv22945 CNV Loss 19812545
nsv523749 CNV Loss 19592680
nsv520515 CNV Loss 19592680
nsv818002 CNV Loss 17921354
nsv834227 CNV Loss 17160897
esv1685651 CNV Insertion 17803354
dgv5016n71 CNV Loss 21882294
nsv522435 CNV Loss 19592680
dgv5017n71 CNV Loss 21882294
nsv829295 CNV Loss 20364138
nsv829296 CNV Gain 20364138
esv2657509 CNV Deletion 23128226
nsv915365 CNV Loss 21882294

Variation tolerance for CELSR1 Gene

Residual Variation Intolerance Score: 1.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.73; 98.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELSR1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELSR1 Gene

Disorders for CELSR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CELSR1 Gene - From: Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neural tube defects
  • spina bifida
  • meningomyelocele
- elite association - COSMIC cancer census association via MalaCards


  • 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:0000269 PubMed:22095531}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for CELSR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CELSR1: view

No data available for Genatlas for CELSR1 Gene

Publications for CELSR1 Gene

  1. Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. (PMID: 9339365) Hadjantonakis A.K. … Little P.F. (Genomics 1997) 2 3 23 67
  2. Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia. (PMID: 12782967) Georgieva L. … Owen M.J. (Psychiatr. Genet. 2003) 3 23
  3. The CELSR1 polymorphisms rs6007897 and rs4044210 are associated with ischaemic stroke in Chinese Han population. (PMID: 25117632) Zhan Y.H. … Wang N. (Ann. Hum. Biol. 2015) 3
  4. Pooled genetic analysis reveals an association of SNPs of only a few genes with risk predisposition to ischemic stroke in a Chinese population. (PMID: 25855559) Zhang Z. … Xie X. (IUBMB Life 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CELSR1 Gene

Sources for CELSR1 Gene