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Protein

Cadherin EGF LAG seven-pass G-type receptor 1

Gene

CELSR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Receptor that may have an important role in cell/cell signaling during nervous system formation.

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • G-protein coupled receptor activity Source: UniProtKB
  • protein dimerization activity Source: UniProtKB
  • transmembrane signaling receptor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, G-protein coupled receptor, Receptor, Transducer

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075275-MONOMER.

Protein family/group databases

MEROPSiP02.012.
TCDBi9.A.14.6.4. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin EGF LAG seven-pass G-type receptor 1
Alternative name(s):
Cadherin family member 9
Flamingo homolog 2
Short name:
hFmi2
Gene namesi
Name:CELSR1
Synonyms:CDHF9, FMI2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1850. CELSR1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 2469ExtracellularSequence analysisAdd BLAST2448
Transmembranei2470 – 2490Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini2491 – 2501CytoplasmicSequence analysisAdd BLAST11
Transmembranei2502 – 2522Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini2523 – 2527ExtracellularSequence analysis5
Transmembranei2528 – 2548Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini2549 – 2572CytoplasmicSequence analysisAdd BLAST24
Transmembranei2573 – 2593Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini2594 – 2611ExtracellularSequence analysisAdd BLAST18
Transmembranei2612 – 2632Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini2633 – 2655CytoplasmicSequence analysisAdd BLAST23
Transmembranei2656 – 2676Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini2677 – 2683ExtracellularSequence analysis7
Transmembranei2684 – 2704Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini2705 – 3014CytoplasmicSequence analysisAdd BLAST310

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Neural tube defects (NTD)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionCongenital 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.
See also OMIM:182940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067213773A → V in NTD; shows significantly reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs12170597dbSNPEnsembl.1
Natural variantiVAR_0672152438R → Q in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs199688538dbSNPEnsembl.1
Natural variantiVAR_0672172964S → L in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs6008777dbSNPEnsembl.1
Natural variantiVAR_0672182983P → A in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs61741871dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9620.
MalaCardsiCELSR1.
MIMi182940. phenotype.
OpenTargetsiENSG00000075275.
PharmGKBiPA26393.

Polymorphism and mutation databases

BioMutaiCELSR1.
DMDMi22095551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000001291421 – 3014Cadherin EGF LAG seven-pass G-type receptor 1Add BLAST2994

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi403N-linked (GlcNAc...)Sequence analysis1
Glycosylationi546N-linked (GlcNAc...)Sequence analysis1
Glycosylationi634N-linked (GlcNAc...)Sequence analysis1
Glycosylationi778N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1114N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1139N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1213N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1249N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1259N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1287N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1307 ↔ 1318By similarity
Disulfide bondi1312 ↔ 1349By similarity
Disulfide bondi1351 ↔ 1360By similarity
Disulfide bondi1367 ↔ 1378By similarity
Disulfide bondi1372 ↔ 1387By similarity
Disulfide bondi1389 ↔ 1398By similarity
Disulfide bondi1407 ↔ 1418By similarity
Disulfide bondi1412 ↔ 1428By similarity
Disulfide bondi1430 ↔ 1440By similarity
Glycosylationi1576N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1620 ↔ 1646By similarity
Glycosylationi1623N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1640N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1653 ↔ 1664By similarity
Disulfide bondi1658 ↔ 1673By similarity
Modified residuei1666(3R)-3-hydroxyasparagineSequence analysis1
Disulfide bondi1675 ↔ 1684By similarity
Disulfide bondi1840 ↔ 1870By similarity
Disulfide bondi1876 ↔ 1887By similarity
Disulfide bondi1881 ↔ 1896By similarity
Modified residuei1889(3R)-3-hydroxyaspartateSequence analysis1
Disulfide bondi1898 ↔ 1907By similarity
Disulfide bondi1911 ↔ 1922By similarity
Disulfide bondi1916 ↔ 1934By similarity
Disulfide bondi1936 ↔ 1945By similarity
Disulfide bondi1953 ↔ 1966By similarity
Disulfide bondi1968 ↔ 1978By similarity
Glycosylationi1979N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1985 ↔ 2000By similarity
Disulfide bondi1987 ↔ 2003By similarity
Disulfide bondi2005 ↔ 2015By similarity
Disulfide bondi2024 ↔ 2033By similarity
Disulfide bondi2036 ↔ 2048By similarity
Glycosylationi2103N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2122N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2257N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2415N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2437N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2523N-linked (GlcNAc...)Sequence analysis1
Modified residuei2761PhosphoserineBy similarity1
Modified residuei2764PhosphoserineCombined sources1
Modified residuei2871PhosphoserineBy similarity1
Modified residuei2873PhosphoserineBy similarity1

Post-translational modificationi

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

EPDiQ9NYQ6.
MaxQBiQ9NYQ6.
PaxDbiQ9NYQ6.
PeptideAtlasiQ9NYQ6.
PRIDEiQ9NYQ6.

PTM databases

iPTMnetiQ9NYQ6.
PhosphoSitePlusiQ9NYQ6.

Expressioni

Gene expression databases

BgeeiENSG00000075275.
CleanExiHS_CELSR1.
ExpressionAtlasiQ9NYQ6. baseline and differential.
GenevisibleiQ9NYQ6. HS.

Organism-specific databases

HPAiHPA052976.
HPA067269.

Interactioni

GO - Molecular functioni

  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi114981. 17 interactors.
IntActiQ9NYQ6. 4 interactors.
MINTiMINT-1413345.
STRINGi9606.ENSP00000262738.

Structurei

3D structure databases

ProteinModelPortaliQ9NYQ6.
SMRiQ9NYQ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini246 – 353Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini354 – 459Cadherin 2PROSITE-ProRule annotationAdd BLAST106
Domaini460 – 565Cadherin 3PROSITE-ProRule annotationAdd BLAST106
Domaini566 – 687Cadherin 4PROSITE-ProRule annotationAdd BLAST122
Domaini688 – 789Cadherin 5PROSITE-ProRule annotationAdd BLAST102
Domaini790 – 892Cadherin 6PROSITE-ProRule annotationAdd BLAST103
Domaini893 – 999Cadherin 7PROSITE-ProRule annotationAdd BLAST107
Domaini1000 – 1101Cadherin 8PROSITE-ProRule annotationAdd BLAST102
Domaini1106 – 1224Cadherin 9PROSITE-ProRule annotationAdd BLAST119
Domaini1303 – 1361EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST59
Domaini1363 – 1399EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini1403 – 1441EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini1442 – 1646Laminin G-like 1PROSITE-ProRule annotationAdd BLAST205
Domaini1649 – 1685EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini1689 – 1870Laminin G-like 2PROSITE-ProRule annotationAdd BLAST182
Domaini1872 – 1907EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini1908 – 1946EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini1947 – 1979EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST33
Domaini1981 – 2016EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini2003 – 2050Laminin EGF-likePROSITE-ProRule annotationAdd BLAST48
Domaini2408 – 2460GPSPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2659 – 2663Poly-Leu5

Sequence similaritiesi

Contains 9 cadherin domains.PROSITE-ProRule annotation
Contains 8 EGF-like domains.PROSITE-ProRule annotation
Contains 1 GPS domain.PROSITE-ProRule annotation
Contains 1 laminin EGF-like domain.PROSITE-ProRule annotation
Contains 2 laminin G-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4289. Eukaryota.
ENOG410XTGH. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000231346.
HOVERGENiHBG050887.
InParanoidiQ9NYQ6.
KOiK04600.
OMAiNAHKSAN.
OrthoDBiEOG091G0039.
PhylomeDBiQ9NYQ6.
TreeFamiTF323983.

Family and domain databases

Gene3Di2.60.120.200. 2 hits.
2.60.40.60. 9 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR032471. GAIN_dom_N.
IPR017981. GPCR_2-like.
IPR001879. GPCR_2_extracellular_dom.
IPR000832. GPCR_2_secretin-like.
IPR000203. GPS.
IPR009030. Growth_fac_rcpt_.
IPR002049. Laminin_EGF.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00002. 7tm_2. 1 hit.
PF00028. Cadherin. 8 hits.
PF00008. EGF. 2 hits.
PF16489. GAIN. 1 hit.
PF01825. GPS. 1 hit.
PF02793. HRM. 1 hit.
PF00053. Laminin_EGF. 1 hit.
PF02210. Laminin_G_2. 2 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR00249. GPCRSECRETIN.
SMARTiSM00112. CA. 9 hits.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 4 hits.
SM00180. EGF_Lam. 1 hit.
SM00303. GPS. 1 hit.
SM00008. HormR. 1 hit.
SM00282. LamG. 2 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 9 hits.
SSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 2 hits.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS00232. CADHERIN_1. 7 hits.
PS50268. CADHERIN_2. 9 hits.
PS00022. EGF_1. 6 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 6 hits.
PS01248. EGF_LAM_1. 1 hit.
PS50027. EGF_LAM_2. 1 hit.
PS50227. G_PROTEIN_RECEP_F2_3. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
PS50221. GPS. 1 hit.
PS50025. LAM_G_DOMAIN. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NYQ6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAPPPPPVLP VLLLLAAAAA LPAMGLRAAA WEPRVPGGTR AFALRPGCTY
60 70 80 90 100
AVGAACTPRA PRELLDVGRD GRLAGRRRVS GAGRPLPLQV RLVARSAPTA
110 120 130 140 150
LSRRLRARTH LPGCGARARL CGTGARLCGA LCFPVPGGCA AAQHSALAAP
160 170 180 190 200
TTLPACRCPP RPRPRCPGRP ICLPPGGSVR LRLLCALRRA AGAVRVGLAL
210 220 230 240 250
EAATAGTPSA SPSPSPPLPP NLPEARAGPA RRARRGTSGR GSLKFPMPNY
260 270 280 290 300
QVALFENEPA GTLILQLHAH YTIEGEEERV SYYMEGLFDE RSRGYFRIDS
310 320 330 340 350
ATGAVSTDSV LDRETKETHV LRVKAVDYST PPRSATTYIT VLVKDTNDHS
360 370 380 390 400
PVFEQSEYRE RVRENLEVGY EVLTIRASDR DSPINANLRY RVLGGAWDVF
410 420 430 440 450
QLNESSGVVS TRAVLDREEA AEYQLLVEAN DQGRNPGPLS ATATVYIEVE
460 470 480 490 500
DENDNYPQFS EQNYVVQVPE DVGLNTAVLR VQATDRDQGQ NAAIHYSILS
510 520 530 540 550
GNVAGQFYLH SLSGILDVIN PLDFEDVQKY SLSIKAQDGG RPPLINSSGV
560 570 580 590 600
VSVQVLDVND NEPIFVSSPF QATVLENVPL GYPVVHIQAV DADSGENARL
610 620 630 640 650
HYRLVDTAST FLGGGSAGPK NPAPTPDFPF QIHNSSGWIT VCAELDREEV
660 670 680 690 700
EHYSFGVEAV DHGSPPMSSS TSVSITVLDV NDNDPVFTQP TYELRLNEDA
710 720 730 740 750
AVGSSVLTLQ ARDRDANSVI TYQLTGGNTR NRFALSSQRG GGLITLALPL
760 770 780 790 800
DYKQEQQYVL AVTASDGTRS HTAHVLINVT DANTHRPVFQ SSHYTVSVSE
810 820 830 840 850
DRPVGTSIAT LSANDEDTGE NARITYVIQD PVPQFRIDPD SGTMYTMMEL
860 870 880 890 900
DYENQVAYTL TIMAQDNGIP QKSDTTTLEI LILDANDNAP QFLWDFYQGS
910 920 930 940 950
IFEDAPPSTS ILQVSATDRD SGPNGRLLYT FQGGDDGDGD FYIEPTSGVI
960 970 980 990 1000
RTQRRLDREN VAVYNLWALA VDRGSPTPLS ASVEIQVTIL DINDNAPMFE
1010 1020 1030 1040 1050
KDELELFVEE NNPVGSVVAK IRANDPDEGP NAQIMYQIVE GDMRHFFQLD
1060 1070 1080 1090 1100
LLNGDLRAMV ELDFEVRREY VLVVQATSAP LVSRATVHIL LVDQNDNPPV
1110 1120 1130 1140 1150
LPDFQILFNN YVTNKSNSFP TGVIGCIPAH DPDVSDSLNY TFVQGNELRL
1160 1170 1180 1190 1200
LLLDPATGEL QLSRDLDNNR PLEALMEVSV SDGIHSVTAF CTLRVTIITD
1210 1220 1230 1240 1250
DMLTNSITVR LENMSQEKFL SPLLALFVEG VAAVLSTTKD DVFVFNVQND
1260 1270 1280 1290 1300
TDVSSNILNV TFSALLPGGV RGQFFPSEDL QEQIYLNRTL LTTISTQRVL
1310 1320 1330 1340 1350
PFDDNICLRE PCENYMKCVS VLRFDSSAPF LSSTTVLFRP IHPINGLRCR
1360 1370 1380 1390 1400
CPPGFTGDYC ETEIDLCYSD PCGANGRCRS REGGYTCECF EDFTGEHCEV
1410 1420 1430 1440 1450
DARSGRCANG VCKNGGTCVN LLIGGFHCVC PPGEYERPYC EVTTRSFPPQ
1460 1470 1480 1490 1500
SFVTFRGLRQ RFHFTISLTF ATQERNGLLL YNGRFNEKHD FIALEIVDEQ
1510 1520 1530 1540 1550
VQLTFSAGET TTTVAPKVPS GVSDGRWHSV QVQYYNKPNI GHLGLPHGPS
1560 1570 1580 1590 1600
GEKMAVVTVD DCDTTMAVRF GKDIGNYSCA AQGTQTGSKK SLDLTGPLLL
1610 1620 1630 1640 1650
GGVPNLPEDF PVHNRQFVGC MRNLSVDGKN VDMAGFIANN GTREGCAARR
1660 1670 1680 1690 1700
NFCDGRRCQN GGTCVNRWNM YLCECPLRFG GKNCEQAMPH PQLFSGESVV
1710 1720 1730 1740 1750
SWSDLNIIIS VPWYLGLMFR TRKEDSVLME ATSGGPTSFR LQILNNYLQF
1760 1770 1780 1790 1800
EVSHGPSDVE SVMLSGLRVT DGEWHHLLIE LKNVKEDSEM KHLVTMTLDY
1810 1820 1830 1840 1850
GMDQNKADIG GMLPGLTVRS VVVGGASEDK VSVRRGFRGC MQGVRMGGTP
1860 1870 1880 1890 1900
TNVATLNMNN ALKVRVKDGC DVDDPCTSSP CPPNSRCHDA WEDYSCVCDK
1910 1920 1930 1940 1950
GYLGINCVDA CHLNPCENMG ACVRSPGSPQ GYVCECGPSH YGPYCENKLD
1960 1970 1980 1990 2000
LPCPRGWWGN PVCGPCHCAV SKGFDPDCNK TNGQCQCKEN YYKLLAQDTC
2010 2020 2030 2040 2050
LPCDCFPHGS HSRTCDMATG QCACKPGVIG RQCNRCDNPF AEVTTLGCEV
2060 2070 2080 2090 2100
IYNGCPKAFE AGIWWPQTKF GQPAAVPCPK GSVGNAVRHC SGEKGWLPPE
2110 2120 2130 2140 2150
LFNCTTISFV DLRAMNEKLS RNETQVDGAR ALQLVRALRS ATQHTGTLFG
2160 2170 2180 2190 2200
NDVRTAYQLL GHVLQHESWQ QGFDLAATQD ADFHEDVIHS GSALLAPATR
2210 2220 2230 2240 2250
AAWEQIQRSE GGTAQLLRRL EGYFSNVARN VRRTYLRPFV IVTANMILAV
2260 2270 2280 2290 2300
DIFDKFNFTG ARVPRFDTIH EEFPRELESS VSFPADFFRP PEEKEGPLLR
2310 2320 2330 2340 2350
PAGRRTTPQT TRPGPGTERE APISRRRRHP DDAGQFAVAL VIIYRTLGQL
2360 2370 2380 2390 2400
LPERYDPDRR SLRLPHRPII NTPMVSTLVY SEGAPLPRPL ERPVLVEFAL
2410 2420 2430 2440 2450
LEVEERTKPV CVFWNHSLAV GGTGGWSARG CELLSRNRTH VACQCSHTAS
2460 2470 2480 2490 2500
FAVLMDISRR ENGEVLPLKI VTYAAVSLSL AALLVAFVLL SLVRMLRSNL
2510 2520 2530 2540 2550
HSIHKHLAVA LFLSQLVFVI GINQTENPFL CTVVAILLHY IYMSTFAWTL
2560 2570 2580 2590 2600
VESLHVYRML TEVRNIDTGP MRFYYVVGWG IPAIVTGLAV GLDPQGYGNP
2610 2620 2630 2640 2650
DFCWLSLQDT LIWSFAGPIG AVIIINTVTS VLSAKVSCQR KHHYYGKKGI
2660 2670 2680 2690 2700
VSLLRTAFLL LLLISATWLL GLLAVNRDAL SFHYLFAIFS GLQGPFVLLF
2710 2720 2730 2740 2750
HCVLNQEVRK HLKGVLGGRK LHLEDSATTR ATLLTRSLNC NTTFGDGPDM
2760 2770 2780 2790 2800
LRTDLGESTA SLDSIVRDEG IQKLGVSSGL VRGSHGEPDA SLMPRSCKDP
2810 2820 2830 2840 2850
PGHDSDSDSE LSLDEQSSSY ASSHSSDSED DGVGAEEKWD PARGAVHSTP
2860 2870 2880 2890 2900
KGDAVANHVP AGWPDQSLAE SDSEDPSGKP RLKVETKVSV ELHREEQGSH
2910 2920 2930 2940 2950
RGEYPPDQES GGAARLASSQ PPEQRKGILK NKVTYPPPLT LTEQTLKGRL
2960 2970 2980 2990 3000
REKLADCEQS PTSSRTSSLG SGGPDCAITV KSPGREPGRD HLNGVAMNVR
3010
TGSAQADGSD SEKP
Length:3,014
Mass (Da):329,486
Last modified:October 1, 2000 - v1
Checksum:iC34691AD3A1DFF3A
GO
Isoform 2 (identifier: Q9NYQ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1395-1397: GEH → EIS
     1398-3014: Missing.

Note: No experimental confirmation available.
Show »
Length:1,397
Mass (Da):152,365
Checksum:iEEB74A274AB73179
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti651E → D in AAH00059 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049464587I → V.Corresponds to variant rs34141466dbSNPEnsembl.1
Natural variantiVAR_016094664S → W.1 PublicationCorresponds to variant rs4823850dbSNPEnsembl.1
Natural variantiVAR_067213773A → V in NTD; shows significantly reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs12170597dbSNPEnsembl.1
Natural variantiVAR_0160951126C → R.1 PublicationCorresponds to variant rs4823561dbSNPEnsembl.1
Natural variantiVAR_0494651242V → I.Corresponds to variant rs6008842dbSNPEnsembl.1
Natural variantiVAR_0494661894Y → H.Corresponds to variant rs34467708dbSNPEnsembl.1
Natural variantiVAR_0494671994L → P.Corresponds to variant rs6008795dbSNPEnsembl.1
Natural variantiVAR_0494681995L → P.Corresponds to variant rs6008794dbSNPEnsembl.1
Natural variantiVAR_0494692045T → M.Corresponds to variant rs12169391dbSNPEnsembl.1
Natural variantiVAR_0244792107I → V.Corresponds to variant rs4044210dbSNPEnsembl.1
Natural variantiVAR_0494702219R → H.Corresponds to variant rs34267201dbSNPEnsembl.1
Natural variantiVAR_0244802268T → A.Corresponds to variant rs6007897dbSNPEnsembl.1
Natural variantiVAR_0672142312R → P Does not affect protein localization to the cell membrane. 1 PublicationCorresponds to variant rs7287089dbSNPEnsembl.1
Natural variantiVAR_0672152438R → Q in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs199688538dbSNPEnsembl.1
Natural variantiVAR_0672162739N → T Does not affect protein localization to the cell membrane. 1 PublicationCorresponds to variant rs148905592dbSNPEnsembl.1
Natural variantiVAR_0494712797C → S.Corresponds to variant rs12165943dbSNPEnsembl.1
Natural variantiVAR_0494722903E → Q.Corresponds to variant rs9615351dbSNPEnsembl.1
Natural variantiVAR_0494732948G → S.Corresponds to variant rs35364389dbSNPEnsembl.1
Natural variantiVAR_0672172964S → L in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs6008777dbSNPEnsembl.1
Natural variantiVAR_0672182983P → A in NTD; shows reduced protein localization to the cell membrane. 1 PublicationCorresponds to variant rs61741871dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0020111395 – 1397GEH → EIS in isoform 2. 1 Publication3
Alternative sequenceiVSP_0020121398 – 3014Missing in isoform 2. 1 PublicationAdd BLAST1617

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231024 mRNA. Translation: AAF61930.1.
AL031588, AL031597, AL021392 Genomic DNA. Translation: CAI19319.1.
AL021392, AL031588, AL031597 Genomic DNA. Translation: CAI20967.1.
AL031597, AL031588, AL021392 Genomic DNA. Translation: CAI23555.1.
BC000059 mRNA. Translation: AAH00059.2.
CCDSiCCDS14076.1. [Q9NYQ6-1]
RefSeqiNP_055061.1. NM_014246.1. [Q9NYQ6-1]
UniGeneiHs.252387.

Genome annotation databases

EnsembliENST00000262738; ENSP00000262738; ENSG00000075275. [Q9NYQ6-1]
GeneIDi9620.
KEGGihsa:9620.
UCSCiuc003bhw.1. human. [Q9NYQ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231024 mRNA. Translation: AAF61930.1.
AL031588, AL031597, AL021392 Genomic DNA. Translation: CAI19319.1.
AL021392, AL031588, AL031597 Genomic DNA. Translation: CAI20967.1.
AL031597, AL031588, AL021392 Genomic DNA. Translation: CAI23555.1.
BC000059 mRNA. Translation: AAH00059.2.
CCDSiCCDS14076.1. [Q9NYQ6-1]
RefSeqiNP_055061.1. NM_014246.1. [Q9NYQ6-1]
UniGeneiHs.252387.

3D structure databases

ProteinModelPortaliQ9NYQ6.
SMRiQ9NYQ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114981. 17 interactors.
IntActiQ9NYQ6. 4 interactors.
MINTiMINT-1413345.
STRINGi9606.ENSP00000262738.

Protein family/group databases

MEROPSiP02.012.
TCDBi9.A.14.6.4. the g-protein-coupled receptor (gpcr) family.
GPCRDBiSearch...

PTM databases

iPTMnetiQ9NYQ6.
PhosphoSitePlusiQ9NYQ6.

Polymorphism and mutation databases

BioMutaiCELSR1.
DMDMi22095551.

Proteomic databases

EPDiQ9NYQ6.
MaxQBiQ9NYQ6.
PaxDbiQ9NYQ6.
PeptideAtlasiQ9NYQ6.
PRIDEiQ9NYQ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262738; ENSP00000262738; ENSG00000075275. [Q9NYQ6-1]
GeneIDi9620.
KEGGihsa:9620.
UCSCiuc003bhw.1. human. [Q9NYQ6-1]

Organism-specific databases

CTDi9620.
DisGeNETi9620.
GeneCardsiCELSR1.
HGNCiHGNC:1850. CELSR1.
HPAiHPA052976.
HPA067269.
MalaCardsiCELSR1.
MIMi182940. phenotype.
604523. gene.
neXtProtiNX_Q9NYQ6.
OpenTargetsiENSG00000075275.
PharmGKBiPA26393.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4289. Eukaryota.
ENOG410XTGH. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000231346.
HOVERGENiHBG050887.
InParanoidiQ9NYQ6.
KOiK04600.
OMAiNAHKSAN.
OrthoDBiEOG091G0039.
PhylomeDBiQ9NYQ6.
TreeFamiTF323983.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075275-MONOMER.

Miscellaneous databases

ChiTaRSiCELSR1. human.
GeneWikiiCELSR1.
GenomeRNAii9620.
PROiQ9NYQ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075275.
CleanExiHS_CELSR1.
ExpressionAtlasiQ9NYQ6. baseline and differential.
GenevisibleiQ9NYQ6. HS.

Family and domain databases

Gene3Di2.60.120.200. 2 hits.
2.60.40.60. 9 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR032471. GAIN_dom_N.
IPR017981. GPCR_2-like.
IPR001879. GPCR_2_extracellular_dom.
IPR000832. GPCR_2_secretin-like.
IPR000203. GPS.
IPR009030. Growth_fac_rcpt_.
IPR002049. Laminin_EGF.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00002. 7tm_2. 1 hit.
PF00028. Cadherin. 8 hits.
PF00008. EGF. 2 hits.
PF16489. GAIN. 1 hit.
PF01825. GPS. 1 hit.
PF02793. HRM. 1 hit.
PF00053. Laminin_EGF. 1 hit.
PF02210. Laminin_G_2. 2 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR00249. GPCRSECRETIN.
SMARTiSM00112. CA. 9 hits.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 4 hits.
SM00180. EGF_Lam. 1 hit.
SM00303. GPS. 1 hit.
SM00008. HormR. 1 hit.
SM00282. LamG. 2 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 9 hits.
SSF49899. SSF49899. 2 hits.
SSF57184. SSF57184. 2 hits.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS00232. CADHERIN_1. 7 hits.
PS50268. CADHERIN_2. 9 hits.
PS00022. EGF_1. 6 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 6 hits.
PS01248. EGF_LAM_1. 1 hit.
PS50027. EGF_LAM_2. 1 hit.
PS50227. G_PROTEIN_RECEP_F2_3. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
PS50221. GPS. 1 hit.
PS50025. LAM_G_DOMAIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCELR1_HUMAN
AccessioniPrimary (citable) accession number: Q9NYQ6
Secondary accession number(s): O95722
, Q5TH47, Q9BWQ5, Q9Y506, Q9Y526
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 2, 2002
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 165 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.