• Gene id: 9620

Gene Summary

• Gene Symbol: CELSR1   Gene   UCSC   Ensembl
• Aliases: ADGRC1, CDHF9, FMI2, HFMI2, ME2
• Gene name: cadherin EGF LAG seven-pass G-type receptor 1
• Alternate names: cadherin EGF LAG seven-pass G-type receptor 1, adhesion G protein-coupled receptor C1, cadherin family member 9, cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila), flamingo homolog 2, protocadherin flamingo 2,
• Gene location: 22q13.31 (46537619: 46361173)     Exons: 38     NC_000022.11
• Gene summary(Entrez): 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 locate
• OMIM: 604523

Protein Summary

• Protein general information: Q9NYQ6  
  • Name: Cadherin EGF LAG seven pass G type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)
  • Length: 3014  
  • Mass: 329486
• Sequence:

  MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRAPRELLDVGRDGRLAG
  RRRVSGAGRPLPLQVRLVARSAPTALSRRLRARTHLPGCGARARLCGTGARLCGALCFPVPGGCAAAQHSALAAP
  TTLPACRCPPRPRPRCPGRPICLPPGGSVRLRLLCALRRAAGAVRVGLALEAATAGTPSASPSPSPPLPPNLPEA
  RAGPARRARRGTSGRGSLKFPMPNYQVALFENEPAGTLILQLHAHYTIEGEEERVSYYMEGLFDERSRGYFRIDS
  ATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVKDTNDHSPVFEQSEYRERVRENLEVGYEVLTI
  RASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEAAEYQLLVEANDQGRNPGPLSATATVYIEVE
  DENDNYPQFSEQNYVVQVPEDVGLNTAVLRVQATDRDQGQNAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFE
  DVQKYSLSIKAQDGGRPPLINSSGVVSVQVLDVNDNEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARL
  HYRLVDTASTFLGGGSAGPKNPAPTPDFPFQIHNSSGWITVCAELDREEVEHYSFGVEAVDHGSPPMSSSTSVSI
  TVLDVNDNDPVFTQPTYELRLNEDAAVGSSVLTLQARDRDANSVITYQLTGGNTRNRFALSSQRGGGLITLALPL
  DYKQEQQYVLAVTASDGTRSHTAHVLINVTDANTHRPVFQSSHYTVSVSEDRPVGTSIATLSANDEDTGENARIT
  YVIQDPVPQFRIDPDSGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILILDANDNAPQFLWDFYQGS
  IFEDAPPSTSILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDRENVAVYNLWALAVDRGS
  PTPLSASVEIQVTILDINDNAPMFEKDELELFVEENNPVGSVVAKIRANDPDEGPNAQIMYQIVEGDMRHFFQLD
  LLNGDLRAMVELDFEVRREYVLVVQATSAPLVSRATVHILLVDQNDNPPVLPDFQILFNNYVTNKSNSFPTGVIG
  CIPAHDPDVSDSLNYTFVQGNELRLLLLDPATGELQLSRDLDNNRPLEALMEVSVSDGIHSVTAFCTLRVTIITD
  DMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNVTFSALLPGGVRGQFF
  PSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVSVLRFDSSAPFLSSTTVLFRPIHPINGLRCR
  CPPGFTGDYCETEIDLCYSDPCGANGRCRSREGGYTCECFEDFTGEHCEVDARSGRCANGVCKNGGTCVNLLIGG
  FHCVCPPGEYERPYCEVTTRSFPPQSFVTFRGLRQRFHFTISLTFATQERNGLLLYNGRFNEKHDFIALEIVDEQ
  VQLTFSAGETTTTVAPKVPSGVSDGRWHSVQVQYYNKPNIGHLGLPHGPSGEKMAVVTVDDCDTTMAVRFGKDIG
  NYSCAAQGTQTGSKKSLDLTGPLLLGGVPNLPEDFPVHNRQFVGCMRNLSVDGKNVDMAGFIANNGTREGCAARR
  NFCDGRRCQNGGTCVNRWNMYLCECPLRFGGKNCEQAMPHPQLFSGESVVSWSDLNIIISVPWYLGLMFRTRKED
  SVLMEATSGGPTSFRLQILNNYLQFEVSHGPSDVESVMLSGLRVTDGEWHHLLIELKNVKEDSEMKHLVTMTLDY
  GMDQNKADIGGMLPGLTVRSVVVGGASEDKVSVRRGFRGCMQGVRMGGTPTNVATLNMNNALKVRVKDGCDVDDP
  CTSSPCPPNSRCHDAWEDYSCVCDKGYLGINCVDACHLNPCENMGACVRSPGSPQGYVCECGPSHYGPYCENKLD
  LPCPRGWWGNPVCGPCHCAVSKGFDPDCNKTNGQCQCKENYYKLLAQDTCLPCDCFPHGSHSRTCDMATGQCACK
  PGVIGRQCNRCDNPFAEVTTLGCEVIYNGCPKAFEAGIWWPQTKFGQPAAVPCPKGSVGNAVRHCSGEKGWLPPE
  LFNCTTISFVDLRAMNEKLSRNETQVDGARALQLVRALRSATQHTGTLFGNDVRTAYQLLGHVLQHESWQQGFDL
  AATQDADFHEDVIHSGSALLAPATRAAWEQIQRSEGGTAQLLRRLEGYFSNVARNVRRTYLRPFVIVTANMILAV
  DIFDKFNFTGARVPRFDTIHEEFPRELESSVSFPADFFRPPEEKEGPLLRPAGRRTTPQTTRPGPGTEREAPISR
  RRRHPDDAGQFAVALVIIYRTLGQLLPERYDPDRRSLRLPHRPIINTPMVSTLVYSEGAPLPRPLERPVLVEFAL
  LEVEERTKPVCVFWNHSLAVGGTGGWSARGCELLSRNRTHVACQCSHTASFAVLMDISRRENGEVLPLKIVTYAA
  VSLSLAALLVAFVLLSLVRMLRSNLHSIHKHLAVALFLSQLVFVIGINQTENPFLCTVVAILLHYIYMSTFAWTL
  VESLHVYRMLTEVRNIDTGPMRFYYVVGWGIPAIVTGLAVGLDPQGYGNPDFCWLSLQDTLIWSFAGPIGAVIII
  NTVTSVLSAKVSCQRKHHYYGKKGIVSLLRTAFLLLLLISATWLLGLLAVNRDALSFHYLFAIFSGLQGPFVLLF
  HCVLNQEVRKHLKGVLGGRKLHLEDSATTRATLLTRSLNCNTTFGDGPDMLRTDLGESTASLDSIVRDEGIQKLG
  VSSGLVRGSHGEPDASLMPRSCKDPPGHDSDSDSELSLDEQSSSYASSHSSDSEDDGVGAEEKWDPARGAVHSTP
  KGDAVANHVPAGWPDQSLAESDSEDPSGKPRLKVETKVSVELHREEQGSHRGEYPPDQESGGAARLASSQPPEQR
  KGILKNKVTYPPPLTLTEQTLKGRLREKLADCEQSPTSSRTSSLGSGGPDCAITVKSPGREPGRDHLNGVAMNVR
  TGSAQADGSDSEKP

• Structural information:
  • Protein Domains: (246..35-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (354..45-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (460..56-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR013320  IPR001881   IPR013032  IPR000742  IPR000152  IPR032471  IPR017981  IPR036445  IPR001879  IPR000832  IPR000203  IPR009030  IPR002049  IPR001791  
  • Prosite: PS00010 PS00232 PS50268 PS00022 PS01186 PS50026 PS01248 PS50027 PS50227 PS50261 PS50221 PS50025
  • STRING: ENSP00000262738
• Other Databases: GeneCards:  CELSR1  Malacards:  CELSR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0042249	establishment of planar polarity of embryonic epithelium	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0045176	apical protein localization	IEA	biological process
GO:0048105	establishment of body hair planar orientation	IEA	biological process
GO:0060488	orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0060489	planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA	biological process
GO:0060490	lateral sprouting involved in lung morphogenesis	IEA	biological process
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA	biological process
GO:0090251	protein localization involved in establishment of planar polarity	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0001843	neural tube closure	ISS	biological process
GO:0001736	establishment of planar polarity	ISS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0060488	orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS	biological process
GO:0048105	establishment of body hair planar orientation	ISS	biological process
GO:0007266	Rho protein signal transduction	ISS	biological process
GO:0060490	lateral sprouting involved in lung morphogenesis	ISS	biological process
GO:0032956	regulation of actin cytoskeleton organization	ISS	biological process
GO:0045176	apical protein localization	ISS	biological process
GO:0042249	establishment of planar polarity of embryonic epithelium	ISS	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0090251	protein localization involved in establishment of planar polarity	ISS	biological process
GO:0060489	planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq