Q9NYQ6 (CELR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CELSR1
Synonyms:	CDHF9, FMI2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3014 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Receptor that may have an important role in cell/cell signaling during nervous system formation.
Subcellular location	Cell membrane; Multi-pass membrane protein.
Post-translational modification	The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains By similarity.
Involvement in disease	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. Ref.5
Sequence similarities	Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 9 cadherin domains. Contains 8 EGF-like domains. Contains 1 GPS domain. Contains 1 laminin EGF-like domain. Contains 2 laminin G-like domains.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	EGF-like domain Laminin EGF-like domain Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	Developmental protein G-protein coupled receptor Receptor Transducer
PTM	Disulfide bond Glycoprotein Hydroxylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Rho protein signal transduction Inferred from electronic annotation. Source: Compara anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara apical protein localization Inferred from electronic annotation. Source: Compara central nervous system development Non-traceable author statement PubMed 9339365. Source: UniProtKB establishment of body hair planar orientation Inferred from electronic annotation. Source: Compara establishment of planar polarity Inferred from sequence or structural similarity. Source: UniProtKB establishment of planar polarity of embryonic epithelium Inferred from electronic annotation. Source: Compara hair follicle development Inferred from electronic annotation. Source: Compara homophilic cell adhesion Inferred from electronic annotation. Source: InterPro inner ear morphogenesis Inferred from electronic annotation. Source: Compara lateral sprouting involved in lung morphogenesis Inferred from electronic annotation. Source: Compara locomotory behavior Inferred from electronic annotation. Source: Compara neural tube closure Inferred from sequence or structural similarity. Source: UniProtKB neuron migration Inferred from electronic annotation. Source: Compara neuropeptide signaling pathway Inferred from electronic annotation. Source: InterPro orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis Inferred from electronic annotation. Source: Compara planar cell polarity pathway involved in neural tube closure Inferred from electronic annotation. Source: Compara planar dichotomous subdivision of terminal units involved in lung branching morphogenesis Inferred from electronic annotation. Source: Compara protein localization involved in establishment of planar polarity Inferred from electronic annotation. Source: Compara regulation of actin cytoskeleton organization Inferred from electronic annotation. Source: Compara wound healing Inferred from electronic annotation. Source: Compara
Cellular_component	integral to plasma membrane Traceable author statement PubMed 9339365. Source: UniProtKB
Molecular_function	G-protein coupled receptor activity Non-traceable author statement PubMed 9339365. Source: UniProtKB calcium ion binding Inferred from electronic annotation. Source: InterPro protein dimerization activity Non-traceable author statement PubMed 9339365. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NYQ6-1)

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.

Isoform 2 (identifier: Q9NYQ6-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 3014	2994	Cadherin EGF LAG seven-pass G-type receptor 1		PRO_0000012914
Regions
	Topological domain	22 – 2469	2448	Extracellular Potential
	Transmembrane	2470 – 2490	21	Helical; Name=1; Potential
	Topological domain	2491 – 2501	11	Cytoplasmic Potential
	Transmembrane	2502 – 2522	21	Helical; Name=2; Potential
	Topological domain	2523 – 2527	5	Extracellular Potential
	Transmembrane	2528 – 2548	21	Helical; Name=3; Potential
	Topological domain	2549 – 2572	24	Cytoplasmic Potential
	Transmembrane	2573 – 2593	21	Helical; Name=4; Potential
	Topological domain	2594 – 2611	18	Extracellular Potential
	Transmembrane	2612 – 2632	21	Helical; Name=5; Potential
	Topological domain	2633 – 2655	23	Cytoplasmic Potential
	Transmembrane	2656 – 2676	21	Helical; Name=6; Potential
	Topological domain	2677 – 2683	7	Extracellular Potential
	Transmembrane	2684 – 2704	21	Helical; Name=7; Potential
	Topological domain	2705 – 3014	310	Cytoplasmic Potential
	Domain	246 – 353	108	Cadherin 1
	Domain	354 – 459	106	Cadherin 2
	Domain	460 – 565	106	Cadherin 3
	Domain	566 – 687	122	Cadherin 4
	Domain	688 – 789	102	Cadherin 5
	Domain	790 – 892	103	Cadherin 6
	Domain	893 – 999	107	Cadherin 7
	Domain	1000 – 1101	102	Cadherin 8
	Domain	1106 – 1224	119	Cadherin 9
	Domain	1303 – 1361	59	EGF-like 1; calcium-binding
	Domain	1363 – 1399	37	EGF-like 2; calcium-binding
	Domain	1403 – 1441	39	EGF-like 3; calcium-binding
	Domain	1442 – 1646	205	Laminin G-like 1
	Domain	1649 – 1685	37	EGF-like 4; calcium-binding
	Domain	1689 – 1870	182	Laminin G-like 2
	Domain	1872 – 1907	36	EGF-like 5; calcium-binding
	Domain	1908 – 1946	39	EGF-like 6; calcium-binding
	Domain	1947 – 1979	33	EGF-like 7; calcium-binding
	Domain	1981 – 2016	36	EGF-like 8; calcium-binding
	Domain	2003 – 2050	48	Laminin EGF-like
	Domain	2408 – 2460	53	GPS
	Compositional bias	2659 – 2663	5	Poly-Leu
Amino acid modifications
	Modified residue	1666	1	(3R)-3-hydroxyasparagine Potential
	Modified residue	1889	1	(3R)-3-hydroxyaspartate Potential
	Modified residue	2764	1	Phosphoserine Ref.4
	Glycosylation	403	1	N-linked (GlcNAc...) Potential
	Glycosylation	546	1	N-linked (GlcNAc...) Potential
	Glycosylation	634	1	N-linked (GlcNAc...) Potential
	Glycosylation	778	1	N-linked (GlcNAc...) Potential
	Glycosylation	1114	1	N-linked (GlcNAc...) Potential
	Glycosylation	1139	1	N-linked (GlcNAc...) Potential
	Glycosylation	1213	1	N-linked (GlcNAc...) Potential
	Glycosylation	1249	1	N-linked (GlcNAc...) Potential
	Glycosylation	1259	1	N-linked (GlcNAc...) Potential
	Glycosylation	1287	1	N-linked (GlcNAc...) Potential
	Glycosylation	1576	1	N-linked (GlcNAc...) Potential
	Glycosylation	1623	1	N-linked (GlcNAc...) Potential
	Glycosylation	1640	1	N-linked (GlcNAc...) Potential
	Glycosylation	1979	1	N-linked (GlcNAc...) Potential
	Glycosylation	2103	1	N-linked (GlcNAc...) Potential
	Glycosylation	2122	1	N-linked (GlcNAc...) Potential
	Glycosylation	2257	1	N-linked (GlcNAc...) Potential
	Glycosylation	2415	1	N-linked (GlcNAc...) Potential
	Glycosylation	2437	1	N-linked (GlcNAc...) Potential
	Glycosylation	2523	1	N-linked (GlcNAc...) Potential
	Disulfide bond	1307 ↔ 1318		By similarity
	Disulfide bond	1312 ↔ 1349		By similarity
	Disulfide bond	1351 ↔ 1360		By similarity
	Disulfide bond	1367 ↔ 1378		By similarity
	Disulfide bond	1372 ↔ 1387		By similarity
	Disulfide bond	1389 ↔ 1398		By similarity
	Disulfide bond	1407 ↔ 1418		By similarity
	Disulfide bond	1412 ↔ 1428		By similarity
	Disulfide bond	1430 ↔ 1440		By similarity
	Disulfide bond	1620 ↔ 1646		By similarity
	Disulfide bond	1653 ↔ 1664		By similarity
	Disulfide bond	1658 ↔ 1673		By similarity
	Disulfide bond	1675 ↔ 1684		By similarity
	Disulfide bond	1840 ↔ 1870		By similarity
	Disulfide bond	1876 ↔ 1887		By similarity
	Disulfide bond	1881 ↔ 1896		By similarity
	Disulfide bond	1898 ↔ 1907		By similarity
	Disulfide bond	1911 ↔ 1922		By similarity
	Disulfide bond	1916 ↔ 1934		By similarity
	Disulfide bond	1936 ↔ 1945		By similarity
	Disulfide bond	1953 ↔ 1966		By similarity
	Disulfide bond	1968 ↔ 1978		By similarity
	Disulfide bond	1985 ↔ 2000		By similarity
	Disulfide bond	1987 ↔ 2003		By similarity
	Disulfide bond	2005 ↔ 2015		By similarity
	Disulfide bond	2024 ↔ 2033		By similarity
	Disulfide bond	2036 ↔ 2048		By similarity
Natural variations
	Alternative sequence	1395 – 1397	3	GEH → EIS in isoform 2.		VSP_002011
	Alternative sequence	1398 – 3014	1617	Missing in isoform 2.		VSP_002012
	Natural variant	587	1	I → V. Corresponds to variant rs34141466 [ dbSNP | Ensembl ].		VAR_049464
	Natural variant	664	1	S → W. Ref.3 Corresponds to variant rs4823850 [ dbSNP | Ensembl ].		VAR_016094
	Natural variant	773	1	A → V in NTD; shows significantly reduced protein localization to the cell membrane. Ref.5		VAR_067213
	Natural variant	1126	1	C → R. Ref.3 Corresponds to variant rs4823561 [ dbSNP | Ensembl ].		VAR_016095
	Natural variant	1242	1	V → I. Corresponds to variant rs6008842 [ dbSNP | Ensembl ].		VAR_049465
	Natural variant	1894	1	Y → H. Corresponds to variant rs34467708 [ dbSNP | Ensembl ].		VAR_049466
	Natural variant	1994	1	L → P. Corresponds to variant rs6008795 [ dbSNP | Ensembl ].		VAR_049467
	Natural variant	1995	1	L → P. Corresponds to variant rs6008794 [ dbSNP | Ensembl ].		VAR_049468
	Natural variant	2045	1	T → M. Corresponds to variant rs12169391 [ dbSNP | Ensembl ].		VAR_049469
	Natural variant	2107	1	I → V. Corresponds to variant rs4044210 [ dbSNP | Ensembl ].		VAR_024479
	Natural variant	2219	1	R → H. Corresponds to variant rs34267201 [ dbSNP | Ensembl ].		VAR_049470
	Natural variant	2268	1	T → A. Corresponds to variant rs6007897 [ dbSNP | Ensembl ].		VAR_024480
	Natural variant	2312	1	R → P Does not affect protein localization to the cell membrane. Ref.5		VAR_067214
	Natural variant	2438	1	R → Q in NTD; shows reduced protein localization to the cell membrane. Ref.5		VAR_067215
	Natural variant	2739	1	N → T Does not affect protein localization to the cell membrane. Ref.5		VAR_067216
	Natural variant	2797	1	C → S. Corresponds to variant rs12165943 [ dbSNP | Ensembl ].		VAR_049471
	Natural variant	2903	1	E → Q. Corresponds to variant rs9615351 [ dbSNP | Ensembl ].		VAR_049472
	Natural variant	2948	1	G → S. Corresponds to variant rs35364389 [ dbSNP | Ensembl ].		VAR_049473
	Natural variant	2964	1	S → L in NTD; shows reduced protein localization to the cell membrane. Ref.5		VAR_067217
	Natural variant	2983	1	P → A in NTD; shows reduced protein localization to the cell membrane. Ref.5		VAR_067218
Experimental info
	Sequence conflict	651	1	E → D in AAH00059. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: C34691AD3A1DFF3A	FASTA	3,014	329,486
	10 20 30 40 50 60 MAPPPPPVLP VLLLLAAAAA LPAMGLRAAA WEPRVPGGTR AFALRPGCTY AVGAACTPRA 70 80 90 100 110 120 PRELLDVGRD GRLAGRRRVS GAGRPLPLQV RLVARSAPTA LSRRLRARTH LPGCGARARL 130 140 150 160 170 180 CGTGARLCGA LCFPVPGGCA AAQHSALAAP TTLPACRCPP RPRPRCPGRP ICLPPGGSVR 190 200 210 220 230 240 LRLLCALRRA AGAVRVGLAL EAATAGTPSA SPSPSPPLPP NLPEARAGPA RRARRGTSGR 250 260 270 280 290 300 GSLKFPMPNY QVALFENEPA GTLILQLHAH YTIEGEEERV SYYMEGLFDE RSRGYFRIDS 310 320 330 340 350 360 ATGAVSTDSV LDRETKETHV LRVKAVDYST PPRSATTYIT VLVKDTNDHS PVFEQSEYRE 370 380 390 400 410 420 RVRENLEVGY EVLTIRASDR DSPINANLRY RVLGGAWDVF QLNESSGVVS TRAVLDREEA 430 440 450 460 470 480 AEYQLLVEAN DQGRNPGPLS ATATVYIEVE DENDNYPQFS EQNYVVQVPE DVGLNTAVLR 490 500 510 520 530 540 VQATDRDQGQ NAAIHYSILS GNVAGQFYLH SLSGILDVIN PLDFEDVQKY SLSIKAQDGG 550 560 570 580 590 600 RPPLINSSGV VSVQVLDVND NEPIFVSSPF QATVLENVPL GYPVVHIQAV DADSGENARL 610 620 630 640 650 660 HYRLVDTAST FLGGGSAGPK NPAPTPDFPF QIHNSSGWIT VCAELDREEV EHYSFGVEAV 670 680 690 700 710 720 DHGSPPMSSS TSVSITVLDV NDNDPVFTQP TYELRLNEDA AVGSSVLTLQ ARDRDANSVI 730 740 750 760 770 780 TYQLTGGNTR NRFALSSQRG GGLITLALPL DYKQEQQYVL AVTASDGTRS HTAHVLINVT 790 800 810 820 830 840 DANTHRPVFQ SSHYTVSVSE DRPVGTSIAT LSANDEDTGE NARITYVIQD PVPQFRIDPD 850 860 870 880 890 900 SGTMYTMMEL DYENQVAYTL TIMAQDNGIP QKSDTTTLEI LILDANDNAP QFLWDFYQGS 910 920 930 940 950 960 IFEDAPPSTS ILQVSATDRD SGPNGRLLYT FQGGDDGDGD FYIEPTSGVI RTQRRLDREN 970 980 990 1000 1010 1020 VAVYNLWALA VDRGSPTPLS ASVEIQVTIL DINDNAPMFE KDELELFVEE NNPVGSVVAK 1030 1040 1050 1060 1070 1080 IRANDPDEGP NAQIMYQIVE GDMRHFFQLD LLNGDLRAMV ELDFEVRREY VLVVQATSAP 1090 1100 1110 1120 1130 1140 LVSRATVHIL LVDQNDNPPV LPDFQILFNN YVTNKSNSFP TGVIGCIPAH DPDVSDSLNY 1150 1160 1170 1180 1190 1200 TFVQGNELRL LLLDPATGEL QLSRDLDNNR PLEALMEVSV SDGIHSVTAF CTLRVTIITD 1210 1220 1230 1240 1250 1260 DMLTNSITVR LENMSQEKFL SPLLALFVEG VAAVLSTTKD DVFVFNVQND TDVSSNILNV 1270 1280 1290 1300 1310 1320 TFSALLPGGV RGQFFPSEDL QEQIYLNRTL LTTISTQRVL PFDDNICLRE PCENYMKCVS 1330 1340 1350 1360 1370 1380 VLRFDSSAPF LSSTTVLFRP IHPINGLRCR CPPGFTGDYC ETEIDLCYSD PCGANGRCRS 1390 1400 1410 1420 1430 1440 REGGYTCECF EDFTGEHCEV DARSGRCANG VCKNGGTCVN LLIGGFHCVC PPGEYERPYC 1450 1460 1470 1480 1490 1500 EVTTRSFPPQ SFVTFRGLRQ RFHFTISLTF ATQERNGLLL YNGRFNEKHD FIALEIVDEQ 1510 1520 1530 1540 1550 1560 VQLTFSAGET TTTVAPKVPS GVSDGRWHSV QVQYYNKPNI GHLGLPHGPS GEKMAVVTVD 1570 1580 1590 1600 1610 1620 DCDTTMAVRF GKDIGNYSCA AQGTQTGSKK SLDLTGPLLL GGVPNLPEDF PVHNRQFVGC 1630 1640 1650 1660 1670 1680 MRNLSVDGKN VDMAGFIANN GTREGCAARR NFCDGRRCQN GGTCVNRWNM YLCECPLRFG 1690 1700 1710 1720 1730 1740 GKNCEQAMPH PQLFSGESVV SWSDLNIIIS VPWYLGLMFR TRKEDSVLME ATSGGPTSFR 1750 1760 1770 1780 1790 1800 LQILNNYLQF EVSHGPSDVE SVMLSGLRVT DGEWHHLLIE LKNVKEDSEM KHLVTMTLDY 1810 1820 1830 1840 1850 1860 GMDQNKADIG GMLPGLTVRS VVVGGASEDK VSVRRGFRGC MQGVRMGGTP TNVATLNMNN 1870 1880 1890 1900 1910 1920 ALKVRVKDGC DVDDPCTSSP CPPNSRCHDA WEDYSCVCDK GYLGINCVDA CHLNPCENMG 1930 1940 1950 1960 1970 1980 ACVRSPGSPQ GYVCECGPSH YGPYCENKLD LPCPRGWWGN PVCGPCHCAV SKGFDPDCNK 1990 2000 2010 2020 2030 2040 TNGQCQCKEN YYKLLAQDTC LPCDCFPHGS HSRTCDMATG QCACKPGVIG RQCNRCDNPF 2050 2060 2070 2080 2090 2100 AEVTTLGCEV IYNGCPKAFE AGIWWPQTKF GQPAAVPCPK GSVGNAVRHC SGEKGWLPPE 2110 2120 2130 2140 2150 2160 LFNCTTISFV DLRAMNEKLS RNETQVDGAR ALQLVRALRS ATQHTGTLFG NDVRTAYQLL 2170 2180 2190 2200 2210 2220 GHVLQHESWQ QGFDLAATQD ADFHEDVIHS GSALLAPATR AAWEQIQRSE GGTAQLLRRL 2230 2240 2250 2260 2270 2280 EGYFSNVARN VRRTYLRPFV IVTANMILAV DIFDKFNFTG ARVPRFDTIH EEFPRELESS 2290 2300 2310 2320 2330 2340 VSFPADFFRP PEEKEGPLLR PAGRRTTPQT TRPGPGTERE APISRRRRHP DDAGQFAVAL 2350 2360 2370 2380 2390 2400 VIIYRTLGQL LPERYDPDRR SLRLPHRPII NTPMVSTLVY SEGAPLPRPL ERPVLVEFAL 2410 2420 2430 2440 2450 2460 LEVEERTKPV CVFWNHSLAV GGTGGWSARG CELLSRNRTH VACQCSHTAS FAVLMDISRR 2470 2480 2490 2500 2510 2520 ENGEVLPLKI VTYAAVSLSL AALLVAFVLL SLVRMLRSNL HSIHKHLAVA LFLSQLVFVI 2530 2540 2550 2560 2570 2580 GINQTENPFL CTVVAILLHY IYMSTFAWTL VESLHVYRML TEVRNIDTGP MRFYYVVGWG 2590 2600 2610 2620 2630 2640 IPAIVTGLAV GLDPQGYGNP DFCWLSLQDT LIWSFAGPIG AVIIINTVTS VLSAKVSCQR 2650 2660 2670 2680 2690 2700 KHHYYGKKGI VSLLRTAFLL LLLISATWLL GLLAVNRDAL SFHYLFAIFS GLQGPFVLLF 2710 2720 2730 2740 2750 2760 HCVLNQEVRK HLKGVLGGRK LHLEDSATTR ATLLTRSLNC NTTFGDGPDM LRTDLGESTA 2770 2780 2790 2800 2810 2820 SLDSIVRDEG IQKLGVSSGL VRGSHGEPDA SLMPRSCKDP PGHDSDSDSE LSLDEQSSSY 2830 2840 2850 2860 2870 2880 ASSHSSDSED DGVGAEEKWD PARGAVHSTP KGDAVANHVP AGWPDQSLAE SDSEDPSGKP 2890 2900 2910 2920 2930 2940 RLKVETKVSV ELHREEQGSH RGEYPPDQES GGAARLASSQ PPEQRKGILK NKVTYPPPLT 2950 2960 2970 2980 2990 3000 LTEQTLKGRL REKLADCEQS PTSSRTSSLG SGGPDCAITV KSPGREPGRD HLNGVAMNVR 3010 TGSAQADGSD SEKP
	Isoform 2 [UniParc]. Checksum: EEB74A274AB73179	FASTA	1,397	152,365
	10 20 30 40 50 60 MAPPPPPVLP VLLLLAAAAA LPAMGLRAAA WEPRVPGGTR AFALRPGCTY AVGAACTPRA 70 80 90 100 110 120 PRELLDVGRD GRLAGRRRVS GAGRPLPLQV RLVARSAPTA LSRRLRARTH LPGCGARARL 130 140 150 160 170 180 CGTGARLCGA LCFPVPGGCA AAQHSALAAP TTLPACRCPP RPRPRCPGRP ICLPPGGSVR 190 200 210 220 230 240 LRLLCALRRA AGAVRVGLAL EAATAGTPSA SPSPSPPLPP NLPEARAGPA RRARRGTSGR 250 260 270 280 290 300 GSLKFPMPNY QVALFENEPA GTLILQLHAH YTIEGEEERV SYYMEGLFDE RSRGYFRIDS 310 320 330 340 350 360 ATGAVSTDSV LDRETKETHV LRVKAVDYST PPRSATTYIT VLVKDTNDHS PVFEQSEYRE 370 380 390 400 410 420 RVRENLEVGY EVLTIRASDR DSPINANLRY RVLGGAWDVF QLNESSGVVS TRAVLDREEA 430 440 450 460 470 480 AEYQLLVEAN DQGRNPGPLS ATATVYIEVE DENDNYPQFS EQNYVVQVPE DVGLNTAVLR 490 500 510 520 530 540 VQATDRDQGQ NAAIHYSILS GNVAGQFYLH SLSGILDVIN PLDFEDVQKY SLSIKAQDGG 550 560 570 580 590 600 RPPLINSSGV VSVQVLDVND NEPIFVSSPF QATVLENVPL GYPVVHIQAV DADSGENARL 610 620 630 640 650 660 HYRLVDTAST FLGGGSAGPK NPAPTPDFPF QIHNSSGWIT VCAELDREEV EHYSFGVEAV 670 680 690 700 710 720 DHGSPPMSSS TSVSITVLDV NDNDPVFTQP TYELRLNEDA AVGSSVLTLQ ARDRDANSVI 730 740 750 760 770 780 TYQLTGGNTR NRFALSSQRG GGLITLALPL DYKQEQQYVL AVTASDGTRS HTAHVLINVT 790 800 810 820 830 840 DANTHRPVFQ SSHYTVSVSE DRPVGTSIAT LSANDEDTGE NARITYVIQD PVPQFRIDPD 850 860 870 880 890 900 SGTMYTMMEL DYENQVAYTL TIMAQDNGIP QKSDTTTLEI LILDANDNAP QFLWDFYQGS 910 920 930 940 950 960 IFEDAPPSTS ILQVSATDRD SGPNGRLLYT FQGGDDGDGD FYIEPTSGVI RTQRRLDREN 970 980 990 1000 1010 1020 VAVYNLWALA VDRGSPTPLS ASVEIQVTIL DINDNAPMFE KDELELFVEE NNPVGSVVAK 1030 1040 1050 1060 1070 1080 IRANDPDEGP NAQIMYQIVE GDMRHFFQLD LLNGDLRAMV ELDFEVRREY VLVVQATSAP 1090 1100 1110 1120 1130 1140 LVSRATVHIL LVDQNDNPPV LPDFQILFNN YVTNKSNSFP TGVIGCIPAH DPDVSDSLNY 1150 1160 1170 1180 1190 1200 TFVQGNELRL LLLDPATGEL QLSRDLDNNR PLEALMEVSV SDGIHSVTAF CTLRVTIITD 1210 1220 1230 1240 1250 1260 DMLTNSITVR LENMSQEKFL SPLLALFVEG VAAVLSTTKD DVFVFNVQND TDVSSNILNV 1270 1280 1290 1300 1310 1320 TFSALLPGGV RGQFFPSEDL QEQIYLNRTL LTTISTQRVL PFDDNICLRE PCENYMKCVS 1330 1340 1350 1360 1370 1380 VLRFDSSAPF LSSTTVLFRP IHPINGLRCR CPPGFTGDYC ETEIDLCYSD PCGANGRCRS 1390 REGGYTCECF EDFTEIS

References

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[1]	"Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes." Wu Q., Maniatis T. Proc. Natl. Acad. Sci. U.S.A. 97:3124-3129(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 627-3014 (ISOFORM 2), VARIANTS TRP-664 AND ARG-1126. Tissue: Kidney.
[4]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2764, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis." Robinson A., Escuin S., Doudney K., Vekemans M., Stevenson R.E., Greene N.D., Copp A.J., Stanier P. Hum. Mutat. 33:440-447(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983, VARIANTS PRO-2312 AND THR-2739, CHARACTERIZATION OF VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983, CHARACTERIZATION OF VARIANTS PRO-2312 AND THR-2739.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00003384. IPI00874160.
RefSeq	NP_055061.1. NM_014246.1.
UniGene	Hs.252387.
3D structure databases
ProteinModelPortal	Q9NYQ6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NYQ6. 3 interactions.
MINT	MINT-1413345.
STRING	9606.ENSP00000262738.
Protein family/group databases
GPCRDB	Search...
PTM databases
PhosphoSite	Q9NYQ6.
Polymorphism databases
DMDM	22095551.
Proteomic databases
PaxDb	Q9NYQ6.
PRIDE	Q9NYQ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262738; ENSP00000262738; ENSG00000075275.
GeneID	9620.
KEGG	hsa:9620.
UCSC	uc003bhw.1. human.
Organism-specific databases
CTD	9620.
GeneCards	GC22M046755.
HGNC	HGNC:1850. CELSR1.
MIM	182940. phenotype. 604523. gene.
neXtProt	NX_Q9NYQ6.
PharmGKB	PA26393.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000231346.
HOVERGEN	HBG050887.
KO	K04600.
OMA	NKPNIGH.
OrthoDB	EOG4KKZ23.
Gene expression databases
ArrayExpress	Q9NYQ6.
Bgee	Q9NYQ6.
CleanEx	HS_CELSR1.
Genevestigator	Q9NYQ6.
GermOnline	ENSG00000075275. Homo sapiens.
Family and domain databases
Gene3D	2.60.120.200. 2 hits. 2.60.40.60. 9 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR008985. ConA-like_lec_gl_sf. IPR013320. ConA-like_subgrp. IPR022624. DUF3497. IPR000742. EG-like_dom. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR002049. EGF_laminin. IPR017981. GPCR_2-like. IPR001879. GPCR_2_extracellular_dom. IPR000832. GPCR_2_secretin-like. IPR000203. GPS_dom. IPR001791. Laminin_G. [Graphical view]
Pfam	PF00002. 7tm_2. 1 hit. PF00028. Cadherin. 8 hits. PF12003. DUF3497. 1 hit. PF00008. EGF. 2 hits. PF01825. GPS. 1 hit. PF02793. HRM. 1 hit. PF00053. Laminin_EGF. 1 hit. PF02210. Laminin_G_2. 2 hits. [Graphical view]
PRINTS	PR00205. CADHERIN. PR00249. GPCRSECRETIN.
SMART	SM00112. CA. 9 hits. SM00181. EGF. 6 hits. SM00180. EGF_Lam. 1 hit. SM00303. GPS. 1 hit. SM00008. HormR. 1 hit. SM00282. LamG. 2 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 9 hits. SSF49899. ConA_like_lec_gl. 2 hits.
PROSITE	PS00010. 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. PS00649. G_PROTEIN_RECEP_F2_1. False negative. PS00650. G_PROTEIN_RECEP_F2_2. False negative. 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]
ProtoNet	Search...
Other
ChiTaRS	CELSR1. human.
GenomeRNAi	9620.
NextBio	36101.
SOURCE	Search...

Entry information

Entry name

CELR1_HUMAN

Accession

Primary (citable) accession number: Q9NYQ6
Secondary accession number(s): O95722 , Q5TH47, Q9BWQ5, Q9Y506, Q9Y526

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 131 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.