Details for: CELSR1

Gene ID: 9620

Symbol: CELSR1

Ensembl ID: ENSG00000075275

Description: cadherin EGF LAG seven-pass G-type receptor 1

Associated with

  • Apical protein localization
    (GO:0045176)
  • Calcium ion binding
    (GO:0005509)
  • Cell-cell adhesion
    (GO:0098609)
  • Central nervous system development
    (GO:0007417)
  • Establishment of body hair planar orientation
    (GO:0048105)
  • Establishment of planar polarity
    (GO:0001736)
  • Establishment of planar polarity of embryonic epithelium
    (GO:0042249)
  • G protein-coupled receptor activity
    (GO:0004930)
  • G protein-coupled receptor signaling pathway
    (GO:0007186)
  • Homophilic cell adhesion via plasma membrane adhesion molecules
    (GO:0007156)
  • Lateral sprouting involved in lung morphogenesis
    (GO:0060490)
  • Membrane
    (GO:0016020)
  • Neural tube closure
    (GO:0001843)
  • Neuron migration
    (GO:0001764)
  • Nucleoplasm
    (GO:0005654)
  • Orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
    (GO:0060488)
  • Planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
    (GO:0060489)
  • Plasma membrane
    (GO:0005886)
  • Protein localization involved in establishment of planar polarity
    (GO:0090251)
  • Regulation of actin cytoskeleton organization
    (GO:0032956)
  • Rho protein signal transduction
    (GO:0007266)
  • Wnt signaling pathway, planar cell polarity pathway
    (GO:0060071)

Other Information

Genular Protein ID: 395363018

Symbol: CELR1_HUMAN

Name: Cadherin EGF LAG seven-pass G-type receptor 1

UniProtKB Accession Codes:

Q9NYQ6 O95722 Q5TH47 Q9BWQ5 Q9Y506 Q9Y526

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CPTAC 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 21 Gene3D 8 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 17 KEGG 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRINTS 2 PRO 1 PROSITE 12 PROSITE-ProRule 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 8 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 1 SAM 1 SMART 7 SMR 1 STRING 1 SUPFAM 5 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10716726

Title: Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes.

PubMed ID: 10716726

DOI: 10.1073/pnas.97.7.3124

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 26855770

Title: A novel mutation in CELSR1 is associated with hereditary lymphedema.

PubMed ID: 26855770

DOI: 10.1186/s13221-016-0035-5

PubMed ID: 22095531

Title: Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.

PubMed ID: 22095531

DOI: 10.1002/humu.21662

PubMed ID: 31215153

Title: Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.

PubMed ID: 31215153

DOI: 10.1002/ajmg.a.61269

Sequence Information:

  • Length: 3014
  • Mass: 329486
  • Checksum: C34691AD3A1DFF3A
  • Sequence:
    • MAPPPPPVLP VLLLLAAAAA LPAMGLRAAA WEPRVPGGTR AFALRPGCTY AVGAACTPRA 
PRELLDVGRD GRLAGRRRVS GAGRPLPLQV RLVARSAPTA LSRRLRARTH LPGCGARARL 
CGTGARLCGA LCFPVPGGCA AAQHSALAAP TTLPACRCPP RPRPRCPGRP ICLPPGGSVR 
LRLLCALRRA AGAVRVGLAL EAATAGTPSA SPSPSPPLPP NLPEARAGPA RRARRGTSGR 
GSLKFPMPNY QVALFENEPA GTLILQLHAH YTIEGEEERV SYYMEGLFDE RSRGYFRIDS 
ATGAVSTDSV LDRETKETHV LRVKAVDYST PPRSATTYIT VLVKDTNDHS PVFEQSEYRE 
RVRENLEVGY EVLTIRASDR DSPINANLRY RVLGGAWDVF QLNESSGVVS TRAVLDREEA 
AEYQLLVEAN DQGRNPGPLS ATATVYIEVE DENDNYPQFS EQNYVVQVPE DVGLNTAVLR 
VQATDRDQGQ NAAIHYSILS GNVAGQFYLH SLSGILDVIN PLDFEDVQKY SLSIKAQDGG 
RPPLINSSGV VSVQVLDVND NEPIFVSSPF QATVLENVPL GYPVVHIQAV DADSGENARL 
HYRLVDTAST FLGGGSAGPK NPAPTPDFPF QIHNSSGWIT VCAELDREEV EHYSFGVEAV 
DHGSPPMSSS TSVSITVLDV NDNDPVFTQP TYELRLNEDA AVGSSVLTLQ ARDRDANSVI 
TYQLTGGNTR NRFALSSQRG GGLITLALPL DYKQEQQYVL AVTASDGTRS HTAHVLINVT 
DANTHRPVFQ SSHYTVSVSE DRPVGTSIAT LSANDEDTGE NARITYVIQD PVPQFRIDPD 
SGTMYTMMEL DYENQVAYTL TIMAQDNGIP QKSDTTTLEI LILDANDNAP QFLWDFYQGS 
IFEDAPPSTS ILQVSATDRD SGPNGRLLYT FQGGDDGDGD FYIEPTSGVI RTQRRLDREN 
VAVYNLWALA VDRGSPTPLS ASVEIQVTIL DINDNAPMFE KDELELFVEE NNPVGSVVAK 
IRANDPDEGP NAQIMYQIVE GDMRHFFQLD LLNGDLRAMV ELDFEVRREY VLVVQATSAP 
LVSRATVHIL LVDQNDNPPV LPDFQILFNN YVTNKSNSFP TGVIGCIPAH DPDVSDSLNY 
TFVQGNELRL LLLDPATGEL QLSRDLDNNR PLEALMEVSV SDGIHSVTAF CTLRVTIITD 
DMLTNSITVR LENMSQEKFL SPLLALFVEG VAAVLSTTKD DVFVFNVQND TDVSSNILNV 
TFSALLPGGV RGQFFPSEDL QEQIYLNRTL LTTISTQRVL PFDDNICLRE PCENYMKCVS 
VLRFDSSAPF LSSTTVLFRP IHPINGLRCR CPPGFTGDYC ETEIDLCYSD PCGANGRCRS 
REGGYTCECF EDFTGEHCEV DARSGRCANG VCKNGGTCVN LLIGGFHCVC PPGEYERPYC 
EVTTRSFPPQ SFVTFRGLRQ RFHFTISLTF ATQERNGLLL YNGRFNEKHD FIALEIVDEQ 
VQLTFSAGET TTTVAPKVPS GVSDGRWHSV QVQYYNKPNI GHLGLPHGPS GEKMAVVTVD 
DCDTTMAVRF GKDIGNYSCA AQGTQTGSKK SLDLTGPLLL GGVPNLPEDF PVHNRQFVGC 
MRNLSVDGKN VDMAGFIANN GTREGCAARR NFCDGRRCQN GGTCVNRWNM YLCECPLRFG 
GKNCEQAMPH PQLFSGESVV SWSDLNIIIS VPWYLGLMFR TRKEDSVLME ATSGGPTSFR 
LQILNNYLQF EVSHGPSDVE SVMLSGLRVT DGEWHHLLIE LKNVKEDSEM KHLVTMTLDY 
GMDQNKADIG GMLPGLTVRS VVVGGASEDK VSVRRGFRGC MQGVRMGGTP TNVATLNMNN 
ALKVRVKDGC DVDDPCTSSP CPPNSRCHDA WEDYSCVCDK GYLGINCVDA CHLNPCENMG 
ACVRSPGSPQ GYVCECGPSH YGPYCENKLD LPCPRGWWGN PVCGPCHCAV SKGFDPDCNK 
TNGQCQCKEN YYKLLAQDTC LPCDCFPHGS HSRTCDMATG QCACKPGVIG RQCNRCDNPF 
AEVTTLGCEV IYNGCPKAFE AGIWWPQTKF GQPAAVPCPK GSVGNAVRHC SGEKGWLPPE 
LFNCTTISFV DLRAMNEKLS RNETQVDGAR ALQLVRALRS ATQHTGTLFG NDVRTAYQLL 
GHVLQHESWQ QGFDLAATQD ADFHEDVIHS GSALLAPATR AAWEQIQRSE GGTAQLLRRL 
EGYFSNVARN VRRTYLRPFV IVTANMILAV DIFDKFNFTG ARVPRFDTIH EEFPRELESS 
VSFPADFFRP PEEKEGPLLR PAGRRTTPQT TRPGPGTERE APISRRRRHP DDAGQFAVAL 
VIIYRTLGQL LPERYDPDRR SLRLPHRPII NTPMVSTLVY SEGAPLPRPL ERPVLVEFAL 
LEVEERTKPV CVFWNHSLAV GGTGGWSARG CELLSRNRTH VACQCSHTAS FAVLMDISRR 
ENGEVLPLKI VTYAAVSLSL AALLVAFVLL SLVRMLRSNL HSIHKHLAVA LFLSQLVFVI 
GINQTENPFL CTVVAILLHY IYMSTFAWTL VESLHVYRML TEVRNIDTGP MRFYYVVGWG 
IPAIVTGLAV GLDPQGYGNP DFCWLSLQDT LIWSFAGPIG AVIIINTVTS VLSAKVSCQR 
KHHYYGKKGI VSLLRTAFLL LLLISATWLL GLLAVNRDAL SFHYLFAIFS GLQGPFVLLF 
HCVLNQEVRK HLKGVLGGRK LHLEDSATTR ATLLTRSLNC NTTFGDGPDM LRTDLGESTA 
SLDSIVRDEG IQKLGVSSGL VRGSHGEPDA SLMPRSCKDP PGHDSDSDSE LSLDEQSSSY 
ASSHSSDSED DGVGAEEKWD PARGAVHSTP KGDAVANHVP AGWPDQSLAE SDSEDPSGKP 
RLKVETKVSV ELHREEQGSH RGEYPPDQES GGAARLASSQ PPEQRKGILK NKVTYPPPLT 
LTEQTLKGRL REKLADCEQS PTSSRTSSLG SGGPDCAITV KSPGREPGRD HLNGVAMNVR 
TGSAQADGSD SEKP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.