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CELSR1 Gene

protein-coding   GIFtS: 63
GCID: GC22M046755

Cadherin, EGF LAG Seven-Pass G-Type Receptor 1

(Previous names: cadherin, EGF LAG seven-pass G-type receptor 1, flamingo...)
  See CELSR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cadherin, EGF LAG Seven-Pass G-Type Receptor 11 2     HFMI22
Cadherin Family Member 92 3     ME22
Flamingo Homolog 22 3     Cadherin EGF LAG Seven-Pass G-Type Receptor 12
CDHF92 3     Cadherin, EGF LAG Seven-Pass G-Type Receptor 1 (Flamingo Homolog,
Drosophila)2
FMI22 3     Protocadherin Flamingo 22
Cadherin, EGF LAG Seven-Pass G-Type Receptor 1, Flamingo (Drosophila)
Homolog1
     hFmi23
Flamingo Homolog 2 (Drosophila)1     

External Ids:    HGNC: 18501   Entrez Gene: 96202   Ensembl: ENSG000000752757   OMIM: 6045235   UniProtKB: Q9NYQ63   

Export aliases for CELSR1 gene to outside databases

Previous GC identifers: GC22M043322 GC22M044968 GC22M045077 GC22M029700


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 craniorachischisis, and spina bifida. GO annotations related to this gene include protein dimerization activity and calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: CELR1_HUMAN, Q9NYQ6
Function: Receptor that may have an important role in cell/cell signaling during nervous system formation

Gene Wiki entry for CELSR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CELSR1 gene promoter:
         AML1a   Bach2   CUTL1   HNF-4alpha1   E2F-1   E2F   FOXJ2 (long isoform)   FOXJ2   MRF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CELSR1 promoter sequence
   Search Chromatin IP Primers for CELSR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CELSR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.3   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

CELSR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELSR1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M046755:  view genomic region     (about GC identifiers)

Start:
46,756,731 bp from pter      End:
46,933,067 bp from pter
Size:
176,337 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CELR1_HUMAN, Q9NYQ6 (See protein sequence)
Recommended Name: Cadherin EGF LAG seven-pass G-type receptor 1 precursor  
Size: 3014 amino acids; 329486 Da
Secondary accessions: O95722 Q5TH47 Q9BWQ5 Q9Y506 Q9Y526
Alternative splicing: 2 isoforms:  Q9NYQ6-1   Q9NYQ6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CELSR1: NX_Q9NYQ6

Explore proteomics data for CELSR1 at MOPED

Post-translational modifications: 

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains (By similarity)1
  • Glycosylation2 at Asn403, Asn546, Asn634, Asn778, Asn1114, Asn1139, Asn1213, Asn1249, Asn1259, Asn1287,
                                 Asn1576, Asn1623, Asn1640, Asn1979, Asn2103, Asn2122, Asn2257, Thr2306, Thr2307, Thr2310 (see all 24)
  • Modification sites at PhosphoSitePlus

  • See CELSR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055061.1  
    ENSEMBL proteins: 
     ENSP00000262738   ENSP00000414689   ENSP00000379293  

    CELSR1 Human Recombinant Protein Products:

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    antibodies-online antibodies for CELSR1 (29 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPCRBO: GPCR / Class B : Orphans
    MCDH: Cadherins / Major cadherins

    IUPHAR Guide to PHARMACOLOGY protein family classification: CELSR1
    Adhesion Class GPCRs

    Selected InterPro protein domains (see all 16):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001879 GPCR_2_extracellular_dom
     IPR001791 Laminin_G
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q9NYQ6

    ProtoNet protein and cluster: Q9NYQ6

    Selected Blocks protein domains (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000203 GPS domain
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB001791 Laminin G
    IPB002049 Laminin-type EGF-like domain


    UniProtKB/Swiss-Prot: CELR1_HUMAN, Q9NYQ6
    Similarity: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily
    Similarity: Contains 9 cadherin domains
    Similarity: Contains 8 EGF-like domains
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 laminin EGF-like domain
    Similarity: Contains 2 laminin G-like domains


    Find genes that share domains with CELSR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CELR1_HUMAN, Q9NYQ6
    Function: Receptor that may have an important role in cell/cell signaling during nervous system formation

         Genatlas biochemistry entry for CELSR1:
    neural specific receptor,expressed in the brain,G protein coupled receptor superfamily,deleted in the
    22qter-syndrome (see DDGSF)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity NAS9339365
    GO:0004930G-protein coupled receptor activity NAS9339365
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity NAS9339365
         
    Find genes that share ontologies with CELSR1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CELSR1:
     Decreased TP53 protein express 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Celsr1) (see all 17):
     adipose tissue  behavior/neurological  craniofacial  embryogenesis  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  other  respiratory system 

    Find genes that share phenotypes with CELSR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Celsr1tm1.1Fati for CELSR1

       genOway: Develop your customized and physiologically relevant rodent model for CELSR1

    miRNA
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    miRTarBase miRNAs that target CELSR1:
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    Block miRNA regulation of human, mouse, rat CELSR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CELSR1 (see all 40):
    hsa-miR-142-5p hsa-miR-1224-3p hsa-miR-548l hsa-miR-124 hsa-miR-298 hsa-miR-3658 hsa-miR-208a hsa-miR-208b
    SwitchGear 3'UTR luciferase reporter plasmidCELSR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CELSR1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CELR1_HUMAN, Q9NYQ6: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005886plasma membrane IDA--
    GO:0005887integral component of plasma membrane TAS9339365
    GO:0016020membrane ----

    Find genes that share ontologies with CELSR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CELSR1 About    
    See pathways by source

    SuperPathContained pathways About
    1GPCRs, Other
    GPCRs, Other


    1 BioSystems Pathway for CELSR1
        GPCRs, Other


        Pathway & Disease-focused RT2 Profiler PCR Array including CELSR1: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CELSR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CELSR1 (Q9NYQ62, 3 ENSP000002627384) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSAPP076022, 3, ENSP000003783944MINT-65660 I2D: score=5 STRING: ENSP00000378394
    FZD1Q9UP383, ENSP000002879344I2D: score=2 STRING: ENSP00000287934
    INTUQ9ULD63, ENSP000003340034I2D: score=1 STRING: ENSP00000334003
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    VANGL1Q8TAA93, ENSP000003108004I2D: score=1 STRING: ENSP00000310800
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001736establishment of planar polarity ISS--
    GO:0001764neuron migration IEA--
    GO:0001843neural tube closure ISS--
    GO:0001942hair follicle development IEA--
    GO:0007156homophilic cell adhesion IEA--

    Find genes that share ontologies with CELSR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CELSR1 (CELR1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CELSR1 gene: 
    NM_014246.1  

    Unigene Cluster for CELSR1:

    Cadherin, EGF LAG seven-pass G-type receptor 1
    Hs.252387  [show with all ESTs]
    Unigene Representative Sequence: AF231024
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262738(uc003bhw.1 uc011arc.1) ENST00000473624 ENST00000468025
    ENST00000454637 ENST00000497509 ENST00000395964
    miRNA
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    Block miRNA regulation of human, mouse, rat CELSR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CELSR1 (see all 40):
    hsa-miR-142-5p hsa-miR-1224-3p hsa-miR-548l hsa-miR-124 hsa-miR-298 hsa-miR-3658 hsa-miR-208a hsa-miR-208b
    SwitchGear 3'UTR luciferase reporter plasmidCELSR1 3' UTR sequence
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    Additional mRNA sequence: 

    AF231024.1 AK302517.1 AL831846.1 BC000059.2 BC013631.1 

    8 DOTS entries:

    DT.440769  DT.100746181  DT.91969422  DT.40256048  DT.120640856  DT.40270955  DT.92030637  DT.99959292 

    Selected AceView cDNA sequences (see all 112):

    AF231024 NM_014246 BM554961 CF540959 AI192779 BU684605 BG116311 AW371376 
    BQ672245 T16634 AL831846 BX090182 H55526 CD675597 AI810837 CA442304 
    BF869062 AW614232 BU172606 AI478471 BU683326 BQ675778 H55655 BC013631 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CELSR1    About this scheme

    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:                                                                                                


    ECgene alternative splicing isoforms for CELSR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CELSR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CELSR1 Expression
    About this image


    CELSR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    CELSR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CELSR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.252387
        Pathway & Disease-focused RT2 Profiler PCR Array including CELSR1: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELSR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CELSR1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Celsr11 , 5 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo more1, 5 81.41(n)1
    81.8(a)1
      15 (40.42 cM)5
    126141  NM_009886.21  NP_034016.21 
     858987585 
    chicken
    (Gallus gallus)
    Aves CELSR11 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo more 73.7(n)
    73.01(a)
      426068  XM_423746.4  XP_423746.4 
    lizard
    (Anolis carolinensis)
    Reptilia CELSR16
    cadherin, EGF LAG seven-pass G-type receptor 1
    64(a)
    1 ↔ 1
    5(99428747-99632935)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ615068.12   -- 77.53(n)    BJ615068.1 
    zebrafish
    (Danio rerio)
    Actinopterygii celsr1a1 cadherin EGF LAG seven-pass G-type receptor 1a 65.23(n)
    64.65(a)
      368436  XM_005168547.1  XP_005168604.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta stan1 , 3 dendrite morphogenesis transmembrane
    receptor3
    starry night1
    40(a)
    (best of 4)3
    51.17(n)1
    43.22(a)1
      361251  NM_001259329.21  NP_001246258.11 
    worm
    (Caenorhabditis elegans)
    Secernentea fmi-11 fmi-1 40.82(n)
    32.13(a)
      179788  NM_073855.4  NP_506256.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CELSR1 gene
    DCHS12  DCHS22  CELSR32  FAT22  PCDH152  FAT42  FAT32  FAT12  
    CELSR22  
    13 SIMAP similar genes for CELSR1 using alignment to 4 protein entries:     CELR1_HUMAN (see all proteins):
    CELSR2    CELSR3    RESDA1    ME5    FAT3    CDH23
    DSC2    CDH22    DKFZp434P2350    FLJ00233    Nbla04261    ME6
    PCDHGA6

    Find genes that share paralogs with CELSR1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CELSR1
    PGOHUM00000246401


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CELSR1 (see all 5695)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617418711,2,,4
    C,FNeural tube defects (NTD)4 --30676815(+) CCCAGG/CGCTCT 2 /P /A mis13Minor allele frequency- C:0.06NS WA NA 3974
    rs60087771,2,,4
    C,FNeural tube defects (NTD)4 --30676871(+) TGCGCG/AAGGAT 2 /S /L mis13Minor allele frequency- A:0.04NS WA NA 4428
    rs1996885381,2,,4
    CNeural tube defects (NTD)4 --30691658(+) GTGTCC/TGGTTC 2 Q R mis10--------
    rs121705971,2,,4
    C,FNeural tube defects (NTD)4 --30847701(+) CATGCG/ACAGTG 2 /A /V mis1 ese34Minor allele frequency- A:0.01NA CSA WA 4666
    rs18831881,2
    F--29881214(-) TTTCAT/GCCTTC 1 -- us2k13Minor allele frequency- G:0.01MN NA WA 392
    rs1428624301,2
    --29881247(+) AGGCAA/GGGCGG 1 -- us2k10--------
    rs1829729621,2
    C--29881339(+) CCCAGA/GAGTGC 1 -- us2k10--------
    rs360083041,2
    C--30673141(+) ATGAC-/ACTT  
            
    ACAAC
    1 -- ds50010--------
    rs121663771,2
    C,F--30673149(+) tacaaC/Tgaggg 1 -- ds50012Minor allele frequency- T:0.15CSA WA 120
    rs1481656281,2
    --30673150(+) ACAACC/GAGGGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CELSR1 (46756731 - 46933067 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CELSR1 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657509CNV Deletion23128226
    nsv513595CNV Insertion21212237
    esv1010472CNV Insertion20482838
    esv1685651CNV Insertion17803354
    nsv3653CNV Insertion18451855
    nsv3652CNV Insertion18451855
    nsv471214CNV Loss18288195
    nsv834225CNV Loss17160897
    nsv818002CNV Loss17921354
    nsv915359CNV Loss21882294

    Human Gene Mutation Database (HGMD): CELSR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CELSR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CELSR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604523    OMIM disorders: --

    UniProtKB/Swiss-Prot: CELR1_HUMAN, Q9NYQ6
  • 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.
    Note=The disease may be caused by mutations affecting the gene represented in this entry

  • 3 diseases for CELSR1:    
    About MalaCards
    craniorachischisis    spina bifida    neural tube defects


    Find genes that share disorders with CELSR1           About GenesLikeMe

    Genetic Association Database (GAD): CELSR1
    Human Genome Epidemiology (HuGE) Navigator: CELSR1 (5 documents)

    Export disorders for CELSR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CELSR1 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with CELSR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. (PubMed id 9339365)1, 3, 9 Hadjantonakis A.K....Little P.F. (Genomics 1997)
    2. Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia. (PubMed id 12782967)1, 4, 9 Georgieva L....Owen M.J. (Psychiatr. Genet. 2003)
    3. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. (PubMed id 22095531)1, 2 Robinson A.... Stanier P. (Hum. Mutat. 2012)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    7. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. (PubMed id 19403135)1, 4 Yamada Y....Kojima T. (Atherosclerosis 2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. (PubMed id 10716726)1, 2 Wu Q. and Maniatis T. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9620 HGNC: 1850 AceView: CELSR1 Ensembl:ENSG00000075275 euGenes: HUgn9620
    ECgene: CELSR1 H-InvDB: CELSR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CELSR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CELSR1 gene:
    Search GeneIP for patents involving CELSR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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