| Tbio | Cadherin EGF LAG seven-pass G-type receptor 1 |
Receptor that may have an important role in cell/cell signaling during nervous system formation.
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]
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]
Comments
| Disease | Target Count |
|---|---|
| Neural Tube Defects, Susceptibility to | 8 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2844 | 2.44941894298511E-23 |
| posterior fossa group B ependymoma | 1530 | 1.43091016787629E-19 |
| chronic lymphosyte leukemia | 232 | 1.85325348175679E-10 |
| malignant mesothelioma | 3163 | 1.49512328798908E-9 |
| osteosarcoma | 7933 | 2.9967861677437E-6 |
| pancreatic cancer | 2300 | 5.15932849246368E-6 |
| pediatric high grade glioma | 2712 | 1.5335986518066E-5 |
| psoriasis | 6685 | 7.18753117070312E-5 |
| pituitary cancer | 1972 | 1.01579432633474E-4 |
| lung cancer | 4473 | 1.66772723330154E-4 |
| atypical teratoid / rhabdoid tumor | 4369 | 2.81855945069149E-4 |
| breast carcinoma | 1614 | 3.55454292502974E-4 |
| glioblastoma | 5572 | 6.02695534890503E-4 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.00139712608557242 |
| ductal carcinoma in situ | 1745 | 0.00213824824428704 |
| active Crohn's disease | 918 | 0.0049689140088845 |
| invasive ductal carcinoma | 2950 | 0.00603103614498663 |
| subependymal giant cell astrocytoma | 2287 | 0.0193828216328177 |
| fibroadenoma | 557 | 0.0238508156071218 |
| Breast cancer | 3099 | 0.0430258056591955 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| spina bifida | 1064 | 3.911 | 2.0 |
| Disease | Target Count |
|---|---|
| bladder exstrophy | 12 |
| Disease | Target Count |
|---|---|
| Neural Tube Defects | 31 |
| Disease | log2 FC | p |
|---|---|---|
| chronic lymphosyte leukemia | 1.500 | 0.000 |
| malignant mesothelioma | 5.900 | 0.000 |
| psoriasis | -1.800 | 0.000 |
| osteosarcoma | -1.462 | 0.000 |
| posterior fossa group B ependymoma | 3.800 | 0.000 |
| atypical teratoid / rhabdoid tumor | 1.800 | 0.000 |
| glioblastoma | 1.600 | 0.001 |
| intraductal papillary-mucinous neoplasm ... | 1.500 | 0.001 |
| lung cancer | 2.100 | 0.000 |
| active Crohn's disease | 1.121 | 0.005 |
| pancreatic cancer | 1.500 | 0.000 |
| breast carcinoma | 1.700 | 0.000 |
| fibroadenoma | 1.200 | 0.024 |
| Breast cancer | 2.400 | 0.043 |
| pediatric high grade glioma | 1.500 | 0.000 |
| subependymal giant cell astrocytoma | 1.915 | 0.019 |
| lung carcinoma | -1.900 | 0.000 |
| ductal carcinoma in situ | 1.800 | 0.002 |
| invasive ductal carcinoma | 1.600 | 0.006 |
| pituitary cancer | -1.700 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Dog | OMA Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Anole lizard | OMA Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | OMA Inparanoid |
| PMID | Text |
|---|---|
| 25855559 | Single nucleotide polymorphisms in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with ischemic stroke in Chinese patients. |
| 25117632 | the present study has proven for the first time that CELSR1 is a susceptibility gene for ischaemic stroke in the Chinese Han population, especially for large artery atherosclerosis. |
| 24632739 | CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California |
| 23792146 | Celsr1 regulates dynamic cell movements by inhibiting stabilization of VE-cadherin and maturation of adherens junctions. |
| 22371354 | CELSR1 is a risk factor for neural tube defects or caudal agenesis via pathogenic role of planar cell polarity signaling in these malformations. |
| 22095531 | Missense variants in CELSR1 may represent a cause of craniorachischisis in humans, as in mice, with defective planar cell polarity protein trafficking to the plasma membrane a likely pathogenic mechanism. |
| 21511255 | CELSR1 may have a role in ischemic stroke, as shown in a Portuguese case-control cohort |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 20223754 | The planar cell polarity genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis. |
| 20198315 | Observational study of gene-disease association. (HuGE Navigator) |
| More... |
MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRAPRELLDVGRD 1 - 70 GRLAGRRRVSGAGRPLPLQVRLVARSAPTALSRRLRARTHLPGCGARARLCGTGARLCGALCFPVPGGCA 71 - 140 AAQHSALAAPTTLPACRCPPRPRPRCPGRPICLPPGGSVRLRLLCALRRAAGAVRVGLALEAATAGTPSA 141 - 210 SPSPSPPLPPNLPEARAGPARRARRGTSGRGSLKFPMPNYQVALFENEPAGTLILQLHAHYTIEGEEERV 211 - 280 SYYMEGLFDERSRGYFRIDSATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVKDTNDHS 281 - 350 PVFEQSEYRERVRENLEVGYEVLTIRASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEA 351 - 420 AEYQLLVEANDQGRNPGPLSATATVYIEVEDENDNYPQFSEQNYVVQVPEDVGLNTAVLRVQATDRDQGQ 421 - 490 NAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFEDVQKYSLSIKAQDGGRPPLINSSGVVSVQVLDVND 491 - 560 NEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARLHYRLVDTASTFLGGGSAGPKNPAPTPDFPF 561 - 630 QIHNSSGWITVCAELDREEVEHYSFGVEAVDHGSPPMSSSTSVSITVLDVNDNDPVFTQPTYELRLNEDA 631 - 700 AVGSSVLTLQARDRDANSVITYQLTGGNTRNRFALSSQRGGGLITLALPLDYKQEQQYVLAVTASDGTRS 701 - 770 HTAHVLINVTDANTHRPVFQSSHYTVSVSEDRPVGTSIATLSANDEDTGENARITYVIQDPVPQFRIDPD 771 - 840 SGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILILDANDNAPQFLWDFYQGSIFEDAPPSTS 841 - 910 ILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDRENVAVYNLWALAVDRGSPTPLS 911 - 980 ASVEIQVTILDINDNAPMFEKDELELFVEENNPVGSVVAKIRANDPDEGPNAQIMYQIVEGDMRHFFQLD 981 - 1050 LLNGDLRAMVELDFEVRREYVLVVQATSAPLVSRATVHILLVDQNDNPPVLPDFQILFNNYVTNKSNSFP 1051 - 1120 TGVIGCIPAHDPDVSDSLNYTFVQGNELRLLLLDPATGELQLSRDLDNNRPLEALMEVSVSDGIHSVTAF 1121 - 1190 CTLRVTIITDDMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNV 1191 - 1260 TFSALLPGGVRGQFFPSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVSVLRFDSSAPF 1261 - 1330 LSSTTVLFRPIHPINGLRCRCPPGFTGDYCETEIDLCYSDPCGANGRCRSREGGYTCECFEDFTGEHCEV 1331 - 1400 DARSGRCANGVCKNGGTCVNLLIGGFHCVCPPGEYERPYCEVTTRSFPPQSFVTFRGLRQRFHFTISLTF 1401 - 1470 ATQERNGLLLYNGRFNEKHDFIALEIVDEQVQLTFSAGETTTTVAPKVPSGVSDGRWHSVQVQYYNKPNI 1471 - 1540 GHLGLPHGPSGEKMAVVTVDDCDTTMAVRFGKDIGNYSCAAQGTQTGSKKSLDLTGPLLLGGVPNLPEDF 1541 - 1610 PVHNRQFVGCMRNLSVDGKNVDMAGFIANNGTREGCAARRNFCDGRRCQNGGTCVNRWNMYLCECPLRFG 1611 - 1680 GKNCEQAMPHPQLFSGESVVSWSDLNIIISVPWYLGLMFRTRKEDSVLMEATSGGPTSFRLQILNNYLQF 1681 - 1750 EVSHGPSDVESVMLSGLRVTDGEWHHLLIELKNVKEDSEMKHLVTMTLDYGMDQNKADIGGMLPGLTVRS 1751 - 1820 VVVGGASEDKVSVRRGFRGCMQGVRMGGTPTNVATLNMNNALKVRVKDGCDVDDPCTSSPCPPNSRCHDA 1821 - 1890 WEDYSCVCDKGYLGINCVDACHLNPCENMGACVRSPGSPQGYVCECGPSHYGPYCENKLDLPCPRGWWGN 1891 - 1960 PVCGPCHCAVSKGFDPDCNKTNGQCQCKENYYKLLAQDTCLPCDCFPHGSHSRTCDMATGQCACKPGVIG 1961 - 2030 RQCNRCDNPFAEVTTLGCEVIYNGCPKAFEAGIWWPQTKFGQPAAVPCPKGSVGNAVRHCSGEKGWLPPE 2031 - 2100 LFNCTTISFVDLRAMNEKLSRNETQVDGARALQLVRALRSATQHTGTLFGNDVRTAYQLLGHVLQHESWQ 2101 - 2170 QGFDLAATQDADFHEDVIHSGSALLAPATRAAWEQIQRSEGGTAQLLRRLEGYFSNVARNVRRTYLRPFV 2171 - 2240 IVTANMILAVDIFDKFNFTGARVPRFDTIHEEFPRELESSVSFPADFFRPPEEKEGPLLRPAGRRTTPQT 2241 - 2310 TRPGPGTEREAPISRRRRHPDDAGQFAVALVIIYRTLGQLLPERYDPDRRSLRLPHRPIINTPMVSTLVY 2311 - 2380 SEGAPLPRPLERPVLVEFALLEVEERTKPVCVFWNHSLAVGGTGGWSARGCELLSRNRTHVACQCSHTAS 2381 - 2450 FAVLMDISRRENGEVLPLKIVTYAAVSLSLAALLVAFVLLSLVRMLRSNLHSIHKHLAVALFLSQLVFVI 2451 - 2520 GINQTENPFLCTVVAILLHYIYMSTFAWTLVESLHVYRMLTEVRNIDTGPMRFYYVVGWGIPAIVTGLAV 2521 - 2590 GLDPQGYGNPDFCWLSLQDTLIWSFAGPIGAVIIINTVTSVLSAKVSCQRKHHYYGKKGIVSLLRTAFLL 2591 - 2660 LLLISATWLLGLLAVNRDALSFHYLFAIFSGLQGPFVLLFHCVLNQEVRKHLKGVLGGRKLHLEDSATTR 2661 - 2730 ATLLTRSLNCNTTFGDGPDMLRTDLGESTASLDSIVRDEGIQKLGVSSGLVRGSHGEPDASLMPRSCKDP 2731 - 2800 PGHDSDSDSELSLDEQSSSYASSHSSDSEDDGVGAEEKWDPARGAVHSTPKGDAVANHVPAGWPDQSLAE 2801 - 2870 SDSEDPSGKPRLKVETKVSVELHREEQGSHRGEYPPDQESGGAARLASSQPPEQRKGILKNKVTYPPPLT 2871 - 2940 LTEQTLKGRLREKLADCEQSPTSSRTSSLGSGGPDCAITVKSPGREPGRDHLNGVAMNVRTGSAQADGSD 2941 - 3010 SEKP 3011 - 3014 //
| PMID | Year | Title |
|---|---|---|
| 25855559 | 2015 | Pooled genetic analysis reveals an association of SNPs of only a few genes with risk predisposition to ischemic stroke in a Chinese population. |
| 25117632 | 2015 | The CELSR1 polymorphisms rs6007897 and rs4044210 are associated with ischaemic stroke in Chinese Han population. |
| 24632739 | 2014 | Identification of novel CELSR1 mutations in spina bifida. |
| 24431302 | 2014 | Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. |
| 23792146 | 2013 | Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis. |
| 22371354 | 2012 | Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis. |
| 22095531 | 2012 | Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. |
| 21511255 | 2011 | Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort. |
| 20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | |
| 20223754 | 2010 | The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis. |
| More... |
