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Protocadherin-19

 PCD19_HUMAN             Reviewed;        1148 AA.
Q8TAB3; B0LDS4; E9PAM6; Q5JTG1; Q5JTG2; Q68DT7; Q9P2N3;
16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
16-AUG-2005, sequence version 3.
20-JUN-2018, entry version 152.
RecName: Full=Protocadherin-19;
Flags: Precursor;
Name=PCDH19; Synonyms=KIAA1313;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY,
DEVELOPMENTAL STAGE, AND VARIANTS EIEE9 GLU-441 AND LYS-557.
PubMed=18469813; DOI=10.1038/ng.149;
Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E.,
Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C., Edkins S.,
Turner S.J., Stevens C., O'Meara S., Tofts C., Barthorpe S., Buck G.,
Cole J., Halliday K., Jones D., Lee R., Madison M., Mironenko T.,
Varian J., West S., Widaa S., Wray P., Teague J., Dicks E., Butler A.,
Menzies A., Jenkinson A., Shepherd R., Gusella J.F., Afawi Z.,
Mazarib A., Neufeld M.Y., Kivity S., Lev D., Lerman-Sagie T.,
Korczyn A.D., Derry C.P., Sutherland G.R., Friend K., Shaw M.,
Corbett M., Kim H.-G., Geschwind D.H., Thomas P., Haan E., Ryan S.,
McKee S., Berkovic S.F., Futreal P.A., Stratton M.R., Mulley J.C.,
Gecz J.;
"X-linked protocadherin 19 mutations cause female-limited epilepsy and
cognitive impairment.";
Nat. Genet. 40:776-781(2008).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-1148 (ISOFORM 2).
TISSUE=Amygdala;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 704-1148 (ISOFORM 2).
TISSUE=Brain;
PubMed=10718198; DOI=10.1093/dnares/7.1.65;
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XVI.
The complete sequences of 150 new cDNA clones from brain which code
for large proteins in vitro.";
DNA Res. 7:65-73(2000).
[5]
GENE STRUCTURE, AND TISSUE SPECIFICITY.
PubMed=11549318; DOI=10.1006/geno.2001.6592;
Wolverton T., Lalande M.;
"Identification and characterization of three members of a novel
subclass of protocadherins.";
Genomics 76:66-72(2001).
[6]
INVOLVEMENT IN EIEE9.
PubMed=20830798; DOI=10.1002/ajmg.a.33611;
Jamal S.M., Basran R.K., Newton S., Wang Z., Milunsky J.M.;
"Novel de novo PCDH19 mutations in three unrelated females with
epilepsy female restricted mental retardation syndrome.";
Am. J. Med. Genet. A 152:2475-2481(2010).
[7]
VARIANTS EIEE9 ASN-121; GLN-199; SER-340 AND PRO-543, AND VARIANT
GLY-1107.
PubMed=19214208; DOI=10.1371/journal.pgen.1000381;
Depienne C., Bouteiller D., Keren B., Cheuret E., Poirier K.,
Trouillard O., Benyahia B., Quelin C., Carpentier W., Julia S.,
Afenjar A., Gautier A., Rivier F., Meyer S., Berquin P., Helias M.,
Py I., Rivera S., Bahi-Buisson N., Gourfinkel-An I., Cazeneuve C.,
Ruberg M., Brice A., Nabbout R., Leguern E.;
"Sporadic infantile epileptic encephalopathy caused by mutations in
PCDH19 resembles Dravet syndrome but mainly affects females.";
PLoS Genet. 5:E1000381-E1000381(2009).
[8]
VARIANTS EIEE9 PRO-276 AND LYS-557, AND VARIANTS GLN-958 AND GLY-1107.
PubMed=19752159; DOI=10.1136/jmg.2009.068817;
Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F.,
Smith R., Raisi Z.A., Turner S.J., Brown N.J., Desai T.D., Haan E.,
Turner G., Christodoulou J., Leonard H., Gill D., Stratton M.R.,
Gecz J., Scheffer I.E.;
"Epilepsy and mental retardation limited to females with PCDH19
mutations can present de novo or in single generation families.";
J. Med. Genet. 47:211-216(2010).
[9]
VARIANTS EIEE9 PRO-203; CYS-206; SER-340; HIS-377; ILE-404 AND
GLN-414.
PubMed=20713952; DOI=10.1212/WNL.0b013e3181ed9e67;
Marini C., Mei D., Parmeggiani L., Norci V., Calado E., Ferrari A.,
Moreira A., Pisano T., Specchio N., Vigevano F., Battaglia D.,
Guerrini R.;
"Protocadherin 19 mutations in girls with infantile-onset epilepsy.";
Neurology 75:646-653(2010).
[10]
VARIANTS EIEE9 SER-236; SER-340; PRO-433 AND ARG-513.
PubMed=21480887; DOI=10.1111/j.1528-1167.2011.03063.x;
Specchio N., Marini C., Terracciano A., Mei D., Trivisano M.,
Sicca F., Fusco L., Cusmai R., Darra F., Bernardina B.D., Bertini E.,
Guerrini R., Vigevano F.;
"Spectrum of phenotypes in female patients with epilepsy due to
protocadherin 19 mutations.";
Epilepsia 52:1251-1257(2011).
[11]
VARIANTS EIEE9 ARG-81; SER-GLU-ALA-141 INS; ARG-146; TYR-206; ASP-249;
GLU-341; ARG-561; LEU-567 AND ASN-618.
PubMed=21053371; DOI=10.1002/humu.21373;
Depienne C., Trouillard O., Bouteiller D., Gourfinkel-An I.,
Poirier K., Rivier F., Berquin P., Nabbout R., Chaigne D.,
Steschenko D., Gautier A., Hoffman-Zacharska D., Lannuzel A.,
Lackmy-Port-Lis M., Maurey H., Dusser A., Bru M.,
Gilbert-Dussardier B., Roubertie A., Kaminska A., Whalen S.,
Mignot C., Baulac S., Lesca G., Arzimanoglou A., LeGuern E.;
"Mutations and deletions in PCDH19 account for various familial or
isolated epilepsies in females.";
Hum. Mutat. 32:E1959-E1975(2011).
[12]
VARIANTS EIEE9 PRO-25 AND SER-340.
PubMed=21519002; DOI=10.1212/WNL.0b013e318217e7b6;
Dibbens L.M., Kneen R., Bayly M.A., Heron S.E., Arsov T.,
Damiano J.A., Desai T., Gibbs J., McKenzie F., Mulley J.C., Ronan A.,
Scheffer I.E.;
"Recurrence risk of epilepsy and mental retardation in females due to
parental mosaicism of PCDH19 mutations.";
Neurology 76:1514-1519(2011).
[13]
VARIANTS EIEE9 GLY-72; LEU-191 AND SER-340, AND VARIANTS HIS-1107 AND
HIS-1134.
PubMed=22050978; DOI=10.1016/j.eplepsyres.2011.10.014;
Higurashi N., Shi X., Yasumoto S., Oguni H., Sakauchi M., Itomi K.,
Miyamoto A., Shiraishi H., Kato T., Makita Y., Hirose S.;
"PCDH19 mutation in Japanese females with epilepsy.";
Epilepsy Res. 99:28-37(2012).
[14]
VARIANTS EIEE9 THR-153; ARG-190; SER-232; SER-234; ASP-262; ARG-344;
GLU-377 AND MET-642, AND VARIANTS CYS-980; VAL-1094 AND HIS-1134.
PubMed=22267240; DOI=10.1002/humu.22029;
Depienne C., Leguern E.;
"PCDH19-related infantile epileptic encephalopathy: An unusual X-
linked inheritance disorder.";
Hum. Mutat. 33:627-634(2012).
[15]
VARIANT EIEE9 158-SER--LEU-1148 DEL.
PubMed=25818041; DOI=10.1111/epi.12954;
Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A.,
Moharir M., Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
"Diagnostic yield of genetic testing in epileptic encephalopathy in
childhood.";
Epilepsia 56:707-716(2015).
[16]
VARIANTS EIEE9 ASN-230 AND LEU-236.
PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L.,
Kurian M.A., Scott R.H.;
"Improving diagnosis and broadening the phenotypes in early-onset
seizure and severe developmental delay disorders through gene panel
analysis.";
J. Med. Genet. 53:310-317(2016).
[17]
VARIANT HIS-447.
PubMed=27864847; DOI=10.1002/humu.23149;
Clinical Study Group;
Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D.,
Bigoni S., Barba C., Mari F., Montomoli M., Pisano T., Rosati A.,
Guerrini R.;
"Diagnostic targeted resequencing in 349 patients with drug-resistant
pediatric epilepsies identifies causative mutations in 30 different
genes.";
Hum. Mutat. 38:216-225(2017).
-!- FUNCTION: Potential calcium-dependent cell-adhesion protein.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass
type I membrane protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q8TAB3-1; Sequence=Displayed;
Note=No experimental confirmation available. Gene prediction
based on EST data.;
Name=2;
IsoId=Q8TAB3-2; Sequence=VSP_015081;
Name=3;
IsoId=Q8TAB3-3; Sequence=VSP_015081, VSP_054046;
Note=No experimental confirmation available. Gene prediction
based on EST data.;
-!- TISSUE SPECIFICITY: Moderately expressed in all regions of the
brain examined, with lowest levels found in the cerebellum.
Moderate expression is also found in ovary, and low expression in
all other tissues tested. Also detected in primary skin
fibroblast. {ECO:0000269|PubMed:11549318,
ECO:0000269|PubMed:18469813}.
-!- DEVELOPMENTAL STAGE: Expressed in developing cortical plate,
amygdala and subcortical regions and in the ganglionic eminence.
{ECO:0000269|PubMed:18469813}.
-!- DISEASE: Epileptic encephalopathy, early infantile, 9 (EIEE9)
[MIM:300088]: A condition characterized by seizure with onset in
infancy or early childhood, cognitive impairment, and delayed
development of variable severity in some patients. Additional
features include autistic signs and psychosis. The disorder is
sex-limited, with the phenotype being restricted to females.
{ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19214208,
ECO:0000269|PubMed:19752159, ECO:0000269|PubMed:20713952,
ECO:0000269|PubMed:20830798, ECO:0000269|PubMed:21053371,
ECO:0000269|PubMed:21480887, ECO:0000269|PubMed:21519002,
ECO:0000269|PubMed:22050978, ECO:0000269|PubMed:22267240,
ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=CAH18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=CAI41393.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=CAI41394.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=X-chromosome gene database Protocadherin 19
(PCDH19); Note=Leiden Open Variation Database (LOVD);
URL="http://www.LOVD.nl/PCDH19";
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EMBL; EF676096; ABX58058.1; -; mRNA.
EMBL; AL355593; CAI41393.1; ALT_INIT; Genomic_DNA.
EMBL; AL355593; CAI41394.1; ALT_INIT; Genomic_DNA.
EMBL; CR749278; CAH18133.1; ALT_INIT; mRNA.
EMBL; AB037734; BAA92551.1; -; mRNA.
CCDS; CCDS43976.1; -. [Q8TAB3-2]
CCDS; CCDS48141.1; -. [Q8TAB3-3]
CCDS; CCDS55462.1; -. [Q8TAB3-1]
RefSeq; NP_001098713.1; NM_001105243.1. [Q8TAB3-2]
RefSeq; NP_001171809.1; NM_001184880.1. [Q8TAB3-1]
RefSeq; NP_065817.2; NM_020766.2. [Q8TAB3-3]
UniGene; Hs.4993; -.
ProteinModelPortal; Q8TAB3; -.
SMR; Q8TAB3; -.
BioGrid; 121586; 3.
IntAct; Q8TAB3; 1.
STRING; 9606.ENSP00000362125; -.
iPTMnet; Q8TAB3; -.
PhosphoSitePlus; Q8TAB3; -.
BioMuta; PCDH19; -.
DMDM; 73620979; -.
EPD; Q8TAB3; -.
MaxQB; Q8TAB3; -.
PaxDb; Q8TAB3; -.
PeptideAtlas; Q8TAB3; -.
PRIDE; Q8TAB3; -.
ProteomicsDB; 73850; -.
ProteomicsDB; 73851; -. [Q8TAB3-2]
TopDownProteomics; Q8TAB3-3; -. [Q8TAB3-3]
Ensembl; ENST00000255531; ENSP00000255531; ENSG00000165194. [Q8TAB3-2]
Ensembl; ENST00000373034; ENSP00000362125; ENSG00000165194. [Q8TAB3-1]
Ensembl; ENST00000420881; ENSP00000400327; ENSG00000165194. [Q8TAB3-3]
GeneID; 57526; -.
KEGG; hsa:57526; -.
UCSC; uc004efw.5; human. [Q8TAB3-1]
CTD; 57526; -.
DisGeNET; 57526; -.
EuPathDB; HostDB:ENSG00000165194.14; -.
GeneCards; PCDH19; -.
H-InvDB; HIX0016913; -.
HGNC; HGNC:14270; PCDH19.
HPA; HPA027533; -.
MalaCards; PCDH19; -.
MIM; 300088; phenotype.
MIM; 300460; gene.
neXtProt; NX_Q8TAB3; -.
OpenTargets; ENSG00000165194; -.
Orphanet; 33069; Dravet syndrome.
Orphanet; 101039; Female restricted epilepsy with intellectual disability.
PharmGKB; PA33003; -.
eggNOG; KOG3594; Eukaryota.
eggNOG; ENOG410XQHI; LUCA.
GeneTree; ENSGT00900000140770; -.
HOGENOM; HOG000220893; -.
HOVERGEN; HBG054878; -.
InParanoid; Q8TAB3; -.
KO; K16499; -.
OMA; QEYESFS; -.
OrthoDB; EOG091G00QD; -.
PhylomeDB; Q8TAB3; -.
TreeFam; TF352008; -.
ChiTaRS; PCDH19; human.
GenomeRNAi; 57526; -.
PRO; PR:Q8TAB3; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000165194; -.
CleanEx; HS_PCDH19; -.
ExpressionAtlas; Q8TAB3; baseline and differential.
Genevisible; Q8TAB3; HS.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0007420; P:brain development; IEA:InterPro.
GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
GO; GO:0007399; P:nervous system development; IBA:GO_Central.
InterPro; IPR002126; Cadherin.
InterPro; IPR015919; Cadherin-like.
InterPro; IPR020894; Cadherin_CS.
InterPro; IPR013164; Cadherin_N.
InterPro; IPR030716; Protocadherin-19.
PANTHER; PTHR24028:SF40; PTHR24028:SF40; 1.
Pfam; PF00028; Cadherin; 5.
Pfam; PF08266; Cadherin_2; 1.
PRINTS; PR00205; CADHERIN.
SMART; SM00112; CA; 6.
SUPFAM; SSF49313; SSF49313; 5.
PROSITE; PS00232; CADHERIN_1; 5.
PROSITE; PS50268; CADHERIN_2; 6.
1: Evidence at protein level;
Alternative splicing; Calcium; Cell adhesion; Cell membrane;
Complete proteome; Disease mutation; Epilepsy; Glycoprotein; Membrane;
Mental retardation; Polymorphism; Reference proteome; Repeat; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 21 {ECO:0000255}.
CHAIN 22 1148 Protocadherin-19.
/FTId=PRO_0000004003.
TOPO_DOM 22 678 Extracellular. {ECO:0000255}.
TRANSMEM 679 699 Helical. {ECO:0000255}.
TOPO_DOM 700 1148 Cytoplasmic. {ECO:0000255}.
DOMAIN 22 129 Cadherin 1. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 130 238 Cadherin 2. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 239 346 Cadherin 3. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 350 453 Cadherin 4. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 454 563 Cadherin 5. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 569 672 Cadherin 6. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
CARBOHYD 261 261 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 420 420 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 485 485 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 546 546 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 570 570 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 676 676 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 716 762 Missing (in isoform 2 and isoform 3).
{ECO:0000303|PubMed:10718198,
ECO:0000303|PubMed:17974005}.
/FTId=VSP_015081.
VAR_SEQ 892 892 Missing (in isoform 3). {ECO:0000305}.
/FTId=VSP_054046.
VARIANT 25 25 L -> P (in EIEE9).
{ECO:0000269|PubMed:21519002}.
/FTId=VAR_067472.
VARIANT 72 72 V -> G (in EIEE9).
{ECO:0000269|PubMed:22050978}.
/FTId=VAR_067473.
VARIANT 81 81 L -> R (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064840.
VARIANT 121 121 D -> N (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:19214208}.
/FTId=VAR_064481.
VARIANT 141 141 A -> ASEA (in EIEE9).
/FTId=VAR_064841.
VARIANT 146 146 T -> R (in EIEE9; dbSNP:rs796052799).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064842.
VARIANT 153 153 A -> T (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067474.
VARIANT 158 1148 Missing (in EIEE9).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078722.
VARIANT 190 190 L -> R (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067475.
VARIANT 191 191 V -> L (in EIEE9; dbSNP:rs753757730).
{ECO:0000269|PubMed:22050978}.
/FTId=VAR_067476.
VARIANT 199 199 E -> Q (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:19214208}.
/FTId=VAR_064482.
VARIANT 203 203 H -> P (in EIEE9; disease features
overlapping with Dravet syndrome;
associated with Cys-206).
{ECO:0000269|PubMed:20713952}.
/FTId=VAR_064483.
VARIANT 206 206 F -> C (in EIEE9; disease features
overlapping with Dravet syndrome;
associated with Pro-203;
dbSNP:rs746274631).
{ECO:0000269|PubMed:20713952}.
/FTId=VAR_064484.
VARIANT 206 206 F -> Y (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064843.
VARIANT 230 230 D -> N (in EIEE9; unknown pathological
significance).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078723.
VARIANT 232 232 N -> S (in EIEE9; dbSNP:rs587784299).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067477.
VARIANT 234 234 N -> S (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067478.
VARIANT 236 236 P -> L (in EIEE9).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078724.
VARIANT 236 236 P -> S (in EIEE9).
{ECO:0000269|PubMed:21480887}.
/FTId=VAR_067479.
VARIANT 249 249 E -> D (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064844.
VARIANT 262 262 A -> D (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067480.
VARIANT 276 276 S -> P (in EIEE9).
{ECO:0000269|PubMed:19752159}.
/FTId=VAR_064485.
VARIANT 340 340 N -> S (in EIEE9; disease features
overlapping with Dravet syndrome;
dbSNP:rs796052839).
{ECO:0000269|PubMed:19214208,
ECO:0000269|PubMed:20713952,
ECO:0000269|PubMed:21480887,
ECO:0000269|PubMed:21519002,
ECO:0000269|PubMed:22050978}.
/FTId=VAR_064486.
VARIANT 341 341 D -> E (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064845.
VARIANT 344 344 P -> R (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067481.
VARIANT 377 377 D -> E (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067482.
VARIANT 377 377 D -> H (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:20713952}.
/FTId=VAR_064487.
VARIANT 404 404 T -> I (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:20713952}.
/FTId=VAR_064488.
VARIANT 414 414 E -> Q (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:20713952}.
/FTId=VAR_064489.
VARIANT 433 433 L -> P (in EIEE9).
{ECO:0000269|PubMed:21480887}.
/FTId=VAR_067483.
VARIANT 441 441 V -> E (in EIEE9; dbSNP:rs132630323).
{ECO:0000269|PubMed:18469813}.
/FTId=VAR_046484.
VARIANT 447 447 N -> H (probable disease-associated
mutation found in a patient with drug-
resistant epilepsy).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078227.
VARIANT 513 513 G -> R (in EIEE9).
{ECO:0000269|PubMed:21480887}.
/FTId=VAR_067484.
VARIANT 543 543 L -> P (in EIEE9; disease features
overlapping with Dravet syndrome).
{ECO:0000269|PubMed:19214208}.
/FTId=VAR_064490.
VARIANT 557 557 N -> K (in EIEE9; dbSNP:rs267606933).
{ECO:0000269|PubMed:18469813,
ECO:0000269|PubMed:19752159}.
/FTId=VAR_046485.
VARIANT 561 561 P -> R (in EIEE9; dbSNP:rs796052819).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064846.
VARIANT 567 567 P -> L (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064847.
VARIANT 618 618 D -> N (in EIEE9).
{ECO:0000269|PubMed:21053371}.
/FTId=VAR_064848.
VARIANT 642 642 V -> M (in EIEE9).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067485.
VARIANT 958 958 R -> Q (in dbSNP:rs748581653).
{ECO:0000269|PubMed:19752159}.
/FTId=VAR_064491.
VARIANT 980 980 R -> C (in dbSNP:rs3764758).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067486.
VARIANT 1094 1094 L -> V (in dbSNP:rs184545774).
{ECO:0000269|PubMed:22267240}.
/FTId=VAR_067487.
VARIANT 1107 1107 R -> G (in dbSNP:rs191333060).
{ECO:0000269|PubMed:19214208,
ECO:0000269|PubMed:19752159}.
/FTId=VAR_064492.
VARIANT 1107 1107 R -> H (in dbSNP:rs200021840).
{ECO:0000269|PubMed:22050978}.
/FTId=VAR_067488.
VARIANT 1134 1134 N -> H (in dbSNP:rs141816797).
{ECO:0000269|PubMed:22050978,
ECO:0000269|PubMed:22267240}.
/FTId=VAR_067489.
CONFLICT 868 868 V -> A (in Ref. 3; CAH18133).
{ECO:0000305}.
SEQUENCE 1148 AA; 126253 MW; AF8721355A33C1C2 CRC64;
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG FALDPRQASA
FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI ISLEVMSSSM EICVIKVEIK
DLNDNAPSFP AAQIELEISE AASPGTRIPL DSAYDPDSGS FGVQTYELTP NELFGLEIKT
RGDGSRFAEL VVEKSLDRET QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE
STYAVSVPEN SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS VNSELVEVSE
SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE SFSTILVDGR LDREQHDQYN
LTIQARDGGV PMLQSAKSFT VLITDENDNH PHFSKPYYQV IVQENNTPGA YLLSVSARDP
DLGLNGSVSY QIVPSQVRDM PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL
PSLQSNATVR VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT SLSASALVLI
YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA IKCKRDNKEI RTYNCSNCLT
ITCLLGCFIK GQNSKCLHCI SVSPISEEQD KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK
ISKNDIRLVP RDVEETDKMN VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT
RNTSANHIYH HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE
GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD QNEGFHCREE
CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA DVEAYDDCGP TKRTFATFGK
DVSDHPAEER PTLKGKRTVD VTICSPKVNS VIREAGNGCE AISPVTSPLH LKSSLPTKPS
VSYTIALAPP ARDLEQYVNN VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV
KRLKDIVL


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