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Aliases for CELSR1 Gene

Aliases for CELSR1 Gene

  • Cadherin EGF LAG Seven-Pass G-Type Receptor 1 2 3 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
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 1 2
  • 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. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is CELSR2.

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

Additional gene information for CELSR1 Gene

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

Genomics for CELSR1 Gene

GeneHancer (GH) Regulatory Elements for CELSR1 Gene

Promoters and enhancers for CELSR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I046536 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554 -0.6 -605 3 KLF17 SIN3A ZNF76 ZNF335 GLIS2 EGR1 SCRT2 KLF7 EGR2 SP3 CELSR1 ENSG00000234869 TTC38
GH22I046462 Enhancer 0.6 ENCODE 76 +74.5 74528 1.2 MEIS2 PKNOX1 SIN3A OSR2 SP1 FOSL1 JUND FOSL2 FOS PRDM1 CELSR1 ENSG00000234869 ENSG00000230634 GC22P046429
GH22I046456 Enhancer 0.9 FANTOM5 ENCODE 32.5 +79.8 79806 1.6 SOX13 PKNOX1 SIN3A RAD21 RARA ZNF7 ADNP NR2F6 EGR2 GATAD2A CELSR1 ENSG00000234869 ENSG00000230634 GC22P046429
GH22I046334 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +201.7 201693 2.9 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 TRMU PKDREJ CDPF1 CELSR1 ENSG00000234869 LOC642648 PIR55573
GH22I046473 Enhancer 0.8 dbSUPER 29 +63.5 63510 1 ELF3 SOX13 SAP130 MLX DNMT3B ZNF48 ZSCAN9 RARA TEAD3 GATAD1 CELSR1 ENSG00000234869 ENSG00000230634 GC22P046429
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CELSR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CELSR1 gene promoter:

Genomic Locations for CELSR1 Gene

Genomic Locations for CELSR1 Gene
chr22:46,360,834-46,537,502
(GRCh38/hg38)
Size:
176,669 bases
Orientation:
Minus strand
chr22:46,756,731-46,933,067
(GRCh37/hg19)

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:
    Q9NYQ6-CELR1_HUMAN
    Recommended name:
    Cadherin EGF LAG seven-pass G-type receptor 1
    Protein Accession:
    Q9NYQ6
    Secondary Accessions:
    • O95722
    • Q5TH47
    • Q9BWQ5
    • Q9Y506
    • Q9Y526

    Protein attributes for CELSR1 Gene

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

    Alternative splice isoforms for CELSR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELSR1 Gene

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 posLast=403403, posLast=546546, Asn634, posLast=778778, Asn1114, posLast=11391139, posLast=12131213, Asn1249, posLast=12591259, Asn1287, Asn1576, Asn1623, Asn1640, Asn1979, posLast=21032103, Asn2122, Asn2257, posLast=23062306, Thr2307, posLast=23102310, posLast=23112311, posLast=24152415, Asn2437, and posLast=25232523

Other Protein References for CELSR1 Gene

No data available for DME Specific Peptides for CELSR1 Gene

Domains & Families for CELSR1 Gene

Gene Families for CELSR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for CELSR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYQ6

UniProtKB/Swiss-Prot:

CELR1_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Family:
  • 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.

Phenotypes From GWAS Catalog for CELSR1 Gene

Gene Ontology (GO) - Molecular Function for CELSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity NAS 9339365
GO:0004930 G-protein coupled receptor activity NAS 9339365
GO:0005509 calcium ion binding IEA --
GO:0046983 protein dimerization activity NAS 9339365
genes like me logo Genes that share ontologies with CELSR1: view
genes like me logo Genes that share phenotypes with CELSR1: view

Animal Models for CELSR1 Gene

MGI Knock Outs for CELSR1:

Animal Model Products

miRNA for CELSR1 Gene

miRTarBase miRNAs that target CELSR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELSR1 gene
Compartment Confidence
plasma membrane 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CELSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005887 integral component of plasma membrane TAS 9339365
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10716726
genes like me logo Genes that share ontologies with CELSR1: view

Pathways & Interactions for CELSR1 Gene

SuperPathways for CELSR1 Gene

SuperPathway 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:0001736 establishment of planar polarity ISS --
GO:0001764 neuron migration IEA --
GO:0001843 neural tube closure IEA,ISS --
GO:0001942 hair follicle development IEA --
GO:0007155 cell adhesion IEA --
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:

Clone Products

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: - -
SP2:
SP3:
SP4:
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37
SP1: - -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CELSR1 Gene

GeneLoc Exon Structure for
CELSR1
ECgene alternative splicing isoforms for
CELSR1

Expression for CELSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CELSR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CELSR1 Gene:

CELSR1

SOURCE GeneReport for Unigene cluster for CELSR1 Gene:

Hs.252387

Evidence on tissue expression from TISSUES for CELSR1 Gene

  • Kidney(4.3)
genes like me logo Genes that share expression patterns with CELSR1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CELSR1 33 34
  • 97.7 (n)
dog
(Canis familiaris)
Mammalia CELSR1 33 34
  • 85.48 (n)
mouse
(Mus musculus)
Mammalia Celsr1 33 16 34
  • 81.41 (n)
cow
(Bos Taurus)
Mammalia CELSR1 34
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Celsr1 33
  • 80.74 (n)
oppossum
(Monodelphis domestica)
Mammalia CELSR1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELSR1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELSR1 33 34
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia CELSR1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celsr1 33
  • 67.39 (n)
zebrafish
(Danio rerio)
Actinopterygii celsr1a 33 34
  • 65.23 (n)
celsr1b 34
  • 58 (a)
OneToMany
OTTDARG00000019147 34
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stan 35 33 34
  • 51.17 (n)
Cad89D 35
  • 30 (a)
CadN2 35
  • 24 (a)
shg 35
  • 23 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRSTN 33
  • 51.12 (n)
worm
(Caenorhabditis elegans)
Secernentea fmi-1 33 34
  • 40.82 (n)
Species where no ortholog for CELSR1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for CELSR1 (if available)
TreeFam:
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.org 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 Variation AA Info Type
rs12170597 Neural tube defects (NTD) [MIM:182940] 46,534,853(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs199688538 Neural tube defects (NTD) [MIM:182940] 46,378,661(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs367691326 benign, Abnormality of neuronal migration 46,391,212(-) G/A coding_sequence_variant, missense_variant
rs551678757 benign, Abnormality of neuronal migration 46,378,706(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs6008777 Neural tube defects (NTD) [MIM:182940] 46,364,140(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv966114 CNV duplication 23825009
nsv955179 CNV deletion 24416366
nsv955178 CNV deletion 24416366
nsv955177 CNV deletion 24416366
nsv834227 CNV loss 17160897
nsv834225 CNV loss 17160897
nsv829296 CNV gain 20364138
nsv829295 CNV loss 20364138
nsv829293 CNV gain 20364138
nsv829281 CNV gain 20364138
nsv818002 CNV loss 17921354
nsv589138 CNV loss 21841781
nsv589137 CNV gain 21841781
nsv523749 CNV loss 19592680
nsv522435 CNV loss 19592680
nsv520515 CNV loss 19592680
nsv513595 CNV insertion 21212237
nsv473396 CNV novel sequence insertion 20440878
nsv471214 CNV loss 18288195
nsv459906 CNV loss 19166990
nsv3653 CNV insertion 18451855
nsv3652 CNV insertion 18451855
nsv1152661 OTHER inversion 26484159
nsv1144978 CNV deletion 24896259
nsv1136359 CNV deletion 24896259
nsv1133543 CNV deletion 24896259
nsv1072648 CNV deletion 25765185
nsv1072221 CNV deletion 25765185
nsv1071797 CNV deletion 25765185
nsv1066865 CNV gain 25217958
nsv1064491 CNV loss 25217958
nsv1064049 CNV gain 25217958
esv3893491 CNV loss 25118596
esv3647957 CNV loss 21293372
esv3647956 CNV loss 21293372
esv3647955 CNV loss 21293372
esv3647953 CNV loss 21293372
esv3647952 CNV loss 21293372
esv3568460 CNV loss 25503493
esv3558263 CNV deletion 23714750
esv3449992 CNV duplication 20981092
esv3443285 CNV insertion 20981092
esv3424033 CNV duplication 20981092
esv3390700 CNV duplication 20981092
esv2657509 CNV deletion 23128226
esv22945 CNV loss 19812545
esv1685651 CNV insertion 17803354
esv1010472 CNV insertion 20482838
dgv2469n106 OTHER inversion 24896259

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)

Additional Variant Information for CELSR1 Gene

Human Gene Mutation Database (HGMD)
CELSR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELSR1

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

Disorders for CELSR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neural tube defects
  • neural tube defects, susceptibility to
myelomeningocele
  • meningomyelocele
anencephaly
  • anph
craniorachischisis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CELR1_HUMAN
  • 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.

Additional Disease Information for CELSR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia. (PMID: 12782967) Georgieva L … Owen MJ (Psychiatric genetics 2003) 3 22 44 58
  2. Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. (PMID: 9339365) Hadjantonakis AK … Little PF (Genomics 1997) 2 3 22 58
  3. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. (PMID: 22095531) Robinson A … Stanier P (Human mutation 2012) 3 4 58
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58

Products for CELSR1 Gene

Sources for CELSR1 Gene

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