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Protocadherin-15

 PCD15_HUMAN             Reviewed;        1955 AA.
Q96QU1; A6NL19; C6ZEF5; C6ZEF6; C6ZEF7; Q5VY38; Q5VY39; Q6TRH8;
Q8NDB9; Q96QT8;
31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
17-OCT-2006, sequence version 2.
12-SEP-2018, entry version 160.
RecName: Full=Protocadherin-15;
Flags: Precursor;
Name=PCDH15; Synonyms=USH1F;
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,
INVOLVEMENT IN USHER SYNDROME TYPE 1F, AND VARIANT GLN-929.
TISSUE=Fetal brain;
PubMed=11487575; DOI=10.1093/hmg/10.16.1709;
Alagramam K.N., Yuan H., Kuehn M.H., Murcia C.L., Wayne S.,
Srisailpathy C.R.S., Lowry R.B., Knaus R., Van Laer L., Bernier F.P.,
Schwartz S., Lee C., Morton C.C., Mullins R.F., Ramesh A.,
Van Camp G., Hagemen G.S., Woychik R.P., Smith R.J.H.;
"Mutations in the novel protocadherin PCDH15 cause Usher syndrome type
1F.";
Hum. Mol. Genet. 10:1709-1718(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INVOLVEMENT IN USHER
SYNDROME TYPE 1F.
PubMed=11398101; DOI=10.1086/321277;
Ahmed Z.M., Riazuddin S., Bernstein S.L., Ahmed Z., Khan S.,
Griffith A.J., Morell R.J., Friedman T.B., Riazuddin S., Wilcox E.R.;
"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type
1F.";
Am. J. Hum. Genet. 69:25-34(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS DFNB23 GLY-134
AND ASP-262.
PubMed=14570705; DOI=10.1093/hmg/ddg358;
Ahmed Z.M., Riazuddin S., Ahmad J., Bernstein S.L., Guo Y.,
Sabar M.F., Sieving P., Riazuddin S., Griffith A.J., Friedman T.B.,
Belyantseva I.A., Wilcox E.R.;
"PCDH15 is expressed in the neurosensory epithelium of the eye and ear
and mutant alleles are responsible for both USH1F and DFNB23.";
Hum. Mol. Genet. 12:3215-3223(2003).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), TISSUE SPECIFICITY,
VARIANT DFNB23 GLY-134, AND VARIANT USH1DF GLY-178.
TISSUE=Retina;
PubMed=18719945; DOI=10.1007/s00439-008-0543-3;
Ahmed Z.M., Riazuddin S., Aye S., Ali R.A., Venselaar H., Anwar S.,
Belyantseva P.P., Qasim M., Riazuddin S., Friedman T.B.;
"Gene structure and mutant alleles of PCDH15: nonsyndromic deafness
DFNB23 and type 1 Usher syndrome.";
Hum. Genet. 124:215-223(2008).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS
ALA-435 AND GLN-929.
TISSUE=Lymph node;
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).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[7]
IDENTIFICATION OF ISOFORMS 1 AND 3, SUBCELLULAR LOCATION, TISSUE
SPECIFICITY, AND VARIANT ALA-19.
PubMed=16369489; DOI=10.1038/sj.onc.1209301;
Rouget-Quermalet V., Giustiniani J., Marie-Cardine A., Beaud G.,
Besnard F., Loyaux D., Ferrara P., Leroy K., Shimizu N., Gaulard P.,
Bensussan A., Schmitt C.;
"Protocadherin 15 (PCDH15): a new secreted isoform and a potential
marker for NK/T cell lymphomas.";
Oncogene 25:2807-2811(2006).
[8]
VARIANTS USH1F LYS-1342 AND THR-1867 DEL.
PubMed=15660226; DOI=10.1007/s00439-004-1227-2;
Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G.,
Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M.,
Balkany T., Liu X.Z.;
"Characterization of Usher syndrome type I gene mutations in an Usher
syndrome patient population.";
Hum. Genet. 116:292-299(2005).
[9]
INVOLVEMENT IN USH1DF.
PubMed=15537665; DOI=10.1093/hmg/ddi010;
Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B.,
Johnson K.R., Liu X.Z.;
"Digenic inheritance of deafness caused by mutations in genes encoding
cadherin 23 and protocadherin 15 in mice and humans.";
Hum. Mol. Genet. 14:103-111(2005).
[10]
VARIANTS USH1F GLN-134 AND ALA-1161 (ISOFORM 4), AND VARIANTS ALA-19;
SER-174; SER-380; ALA-435; GLN-929 AND SER-1273.
PubMed=22815625;
Jaijo T., Oshima A., Aller E., Carney C., Usami S., Millan J.M.,
Kimberling W.J.;
"Mutation screening of the PCDH15 gene in Spanish patients with Usher
syndrome type I.";
Mol. Vis. 18:1719-1726(2012).
[11]
VARIANT DFNB23 1576-GLN--LEU-1955 DEL.
PubMed=28281779; DOI=10.1089/gtmb.2016.0328;
Wang R., Han S., Khan A., Zhang X.;
"Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or
Syndromic Hearing Loss.";
Genet. Test. Mol. Biomarkers 21:316-321(2017).
-!- FUNCTION: Calcium-dependent cell-adhesion protein. Essential for
maintenance of normal retinal and cochlear function.
-!- SUBUNIT: Antiparallel heterodimer with CDH23. Found in a complex
with TMIE and LHFPL5. Interacts with LHFPL5/TMHS; this interaction
is required for efficient localization to hair bundles. Interacts
with MYO7A. Interacts with USH1G; this interaction may recruit
USH1G to the plasma membrane. Interacts with TOMT. Isoforms CD1
and CD3 interact with TMC1 (via N-terminus) and TMC2 (via N-
terminus). {ECO:0000250|UniProtKB:Q99PJ1}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass
type I membrane protein {ECO:0000250}. Note=Efficient localization
to the plasma membrane requires the presence of LHFPL5.
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Isoform 3: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=A, CD1-1;
IsoId=Q96QU1-1; Sequence=Displayed;
Name=2; Synonyms=B;
IsoId=Q96QU1-2; Sequence=VSP_028257, VSP_028258;
Name=3; Synonyms=C;
IsoId=Q96QU1-3; Sequence=VSP_028259, VSP_028260;
Note=Ref.5 (CAD38850) sequence differs from that shown due to
erroneous termination (Translated as Val in position 957).
{ECO:0000305};
Name=4; Synonyms=CD2-1;
IsoId=Q96QU1-4; Sequence=VSP_046616, VSP_046617, VSP_046622;
Note=Variant in position: 1611:E->A (in USH1F).
{ECO:0000269|PubMed:22815625};
Name=5; Synonyms=CD3-1;
IsoId=Q96QU1-6; Sequence=VSP_046618, VSP_046621;
-!- TISSUE SPECIFICITY: Expressed in brain, lung, kidney, spleen and
testis. Found also in the inner and outer synaptic layers, and the
nerve fiber layer in adult and fetal retinas. Found in the
supporting cells, outer sulcus cells and spiral ganglion of fetal
cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines
as well as biopsies of nasal NK/T-cell lymphomas. Not detected in
normal or in vitro activated peripheral blood cells, CD4 or CD8
lymphocytes or NK cells. Isoform 3 is expressed in brain, heart,
cerebellum and kidney. CD1 isoforms, such as isoform 1, have a
limited pattern of expression and is detected in testis, retina
and cochlea. CD2 isoforms, such as isoforms 4 and 5, are expressed
in heart, kidney, thymus, spleen, testis, retina and cochlea. CD3
isoforms, such as isoform 6, are widely expressed.
{ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:16369489,
ECO:0000269|PubMed:18719945}.
-!- DOMAIN: Cadherin repeats 1 and 2 mediate calcium-dependent
heterophilic interaction with CDH23. {ECO:0000250}.
-!- DOMAIN: Three calcium ions are usually bound at the interface of
each cadherin domain and rigidify the connections, imparting a
strong curvature to the full-length ectodomain. {ECO:0000250}.
-!- DISEASE: Usher syndrome 1F (USH1F) [MIM:602083]: USH is a
genetically heterogeneous condition characterized by the
association of retinitis pigmentosa with sensorineural deafness.
Age at onset and differences in auditory and vestibular function
distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2
(USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by
profound congenital sensorineural deafness, absent vestibular
function and prepubertal onset of progressive retinitis pigmentosa
leading to blindness. {ECO:0000269|PubMed:15660226,
ECO:0000269|PubMed:22815625}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF
patients are heterozygous for mutations in CDH23 and PCDH15,
indicating a digenic inheritance pattern.
{ECO:0000269|PubMed:15537665, ECO:0000269|PubMed:18719945}.
Note=The disease is caused by mutations affecting distinct genetic
loci, including the gene represented in this entry.
-!- DISEASE: Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]:
A form of non-syndromic sensorineural hearing loss. Sensorineural
deafness results from damage to the neural receptors of the inner
ear, the nerve pathways to the brain, or the area of the brain
that receives sound information. {ECO:0000269|PubMed:14570705,
ECO:0000269|PubMed:18719945, ECO:0000269|PubMed:28281779}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=ACF76477.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Probable cloning artifact.; Evidence={ECO:0000305};
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EMBL; AY029205; AAK31581.1; -; mRNA.
EMBL; AY029237; AAK31804.1; -; mRNA.
EMBL; AY388963; AAR26468.1; -; mRNA.
EMBL; EU718480; ACF76476.1; -; mRNA.
EMBL; EU718481; ACF76477.1; ALT_SEQ; mRNA.
EMBL; EU718482; ACF76478.1; -; mRNA.
EMBL; AL834134; CAD38850.2; ALT_TERM; mRNA.
EMBL; AC013737; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC016817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC024073; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC027671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL353784; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL356114; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL360214; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL365496; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS7248.1; -. [Q96QU1-1]
CCDS; CCDS86093.1; -. [Q96QU1-3]
CCDS; CCDS86094.1; -. [Q96QU1-6]
CCDS; CCDS86095.1; -. [Q96QU1-4]
RefSeq; NP_149045.3; NM_033056.3. [Q96QU1-1]
RefSeq; XP_016872061.1; XM_017016572.1.
UniGene; Hs.280209; -.
PDB; 4XHZ; X-ray; 2.80 A; A=816-1144.
PDB; 5T4M; X-ray; 2.24 A; A/B=263-616.
PDB; 5T4N; X-ray; 2.70 A; A/B=263-616.
PDBsum; 4XHZ; -.
PDBsum; 5T4M; -.
PDBsum; 5T4N; -.
ProteinModelPortal; Q96QU1; -.
SMR; Q96QU1; -.
BioGrid; 122407; 2.
IntAct; Q96QU1; 1.
MINT; Q96QU1; -.
STRING; 9606.ENSP00000354950; -.
ChEMBL; CHEMBL6112; -.
iPTMnet; Q96QU1; -.
PhosphoSitePlus; Q96QU1; -.
BioMuta; PCDH15; -.
DMDM; 116242702; -.
MaxQB; Q96QU1; -.
PaxDb; Q96QU1; -.
PeptideAtlas; Q96QU1; -.
PRIDE; Q96QU1; -.
ProteomicsDB; 77903; -.
ProteomicsDB; 77904; -. [Q96QU1-2]
ProteomicsDB; 77905; -. [Q96QU1-3]
Ensembl; ENST00000320301; ENSP00000322604; ENSG00000150275. [Q96QU1-1]
Ensembl; ENST00000373955; ENSP00000363066; ENSG00000150275. [Q96QU1-3]
Ensembl; ENST00000395445; ENSP00000378832; ENSG00000150275. [Q96QU1-4]
Ensembl; ENST00000616114; ENSP00000483745; ENSG00000150275. [Q96QU1-6]
GeneID; 65217; -.
KEGG; hsa:65217; -.
UCSC; uc001jju.2; human. [Q96QU1-1]
CTD; 65217; -.
DisGeNET; 65217; -.
EuPathDB; HostDB:ENSG00000150275.17; -.
GeneCards; PCDH15; -.
GeneReviews; PCDH15; -.
HGNC; HGNC:14674; PCDH15.
HPA; HPA074437; -.
MalaCards; PCDH15; -.
MIM; 276900; phenotype.
MIM; 601067; phenotype.
MIM; 602083; phenotype.
MIM; 605514; gene.
MIM; 609533; phenotype.
neXtProt; NX_Q96QU1; -.
OpenTargets; ENSG00000150275; -.
Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
Orphanet; 231169; Usher syndrome type 1.
PharmGKB; PA32999; -.
eggNOG; KOG3594; Eukaryota.
eggNOG; ENOG410XQHI; LUCA.
GeneTree; ENSGT00920000148958; -.
HOGENOM; HOG000230919; -.
HOVERGEN; HBG053521; -.
InParanoid; Q96QU1; -.
KO; K16500; -.
PhylomeDB; Q96QU1; -.
ChiTaRS; PCDH15; human.
GeneWiki; PCDH15; -.
GenomeRNAi; 65217; -.
PRO; PR:Q96QU1; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000150275; Expressed in 67 organ(s), highest expression level in corpus callosum.
CleanEx; HS_PCDH15; -.
ExpressionAtlas; Q96QU1; baseline and differential.
Genevisible; Q96QU1; HS.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005615; C:extracellular space; IDA:HGNC.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0001750; C:photoreceptor outer segment; IDA:HGNC.
GO; GO:0032420; C:stereocilium; ISS:HGNC.
GO; GO:0045202; C:synapse; IDA:HGNC.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
GO; GO:0050957; P:equilibrioception; IMP:HGNC.
GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
GO; GO:0048839; P:inner ear development; IEA:InterPro.
GO; GO:0007399; P:nervous system development; IBA:GO_Central.
GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC.
GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC.
GO; GO:0007605; P:sensory perception of sound; IMP:HGNC.
InterPro; IPR002126; Cadherin.
InterPro; IPR015919; Cadherin-like.
InterPro; IPR020894; Cadherin_CS.
InterPro; IPR030718; Protocadherin-15.
PANTHER; PTHR24028:SF11; PTHR24028:SF11; 3.
Pfam; PF00028; Cadherin; 8.
PRINTS; PR00205; CADHERIN.
SMART; SM00112; CA; 11.
SUPFAM; SSF49313; SSF49313; 10.
PROSITE; PS00232; CADHERIN_1; 3.
PROSITE; PS50268; CADHERIN_2; 10.
1: Evidence at protein level;
3D-structure; Alternative splicing; Calcium; Cell adhesion;
Cell membrane; Complete proteome; Deafness; Disease mutation;
Disulfide bond; Glycoprotein; Hearing; Membrane;
Non-syndromic deafness; Polymorphism; Reference proteome; Repeat;
Retinitis pigmentosa; Secreted; Signal; Transmembrane;
Transmembrane helix; Usher syndrome.
SIGNAL 1 26 {ECO:0000255}.
CHAIN 27 1955 Protocadherin-15.
/FTId=PRO_0000003998.
TOPO_DOM 27 1376 Extracellular. {ECO:0000255}.
TRANSMEM 1377 1397 Helical. {ECO:0000255}.
TOPO_DOM 1398 1955 Cytoplasmic. {ECO:0000255}.
DOMAIN 40 147 Cadherin 1. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 148 265 Cadherin 2. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 278 395 Cadherin 3. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 396 509 Cadherin 4. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 510 616 Cadherin 5. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 617 717 Cadherin 6. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 719 819 Cadherin 7. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 820 926 Cadherin 8. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 927 1035 Cadherin 9. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1037 1144 Cadherin 10. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1145 1259 Cadherin 11. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
COMPBIAS 1435 1443 Poly-Pro.
COMPBIAS 1746 1752 Poly-Pro.
COMPBIAS 1815 1823 Poly-Pro.
COMPBIAS 1826 1831 Poly-Pro.
CARBOHYD 52 52 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 97 97 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 201 201 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 419 419 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 559 559 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 662 662 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 724 724 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 768 768 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 821 821 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 851 851 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1064 1064 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1084 1084 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1175 1175 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 32 120 {ECO:0000250}.
VAR_SEQ 1 1118 Missing (in isoform 2).
{ECO:0000303|PubMed:14570705}.
/FTId=VSP_028257.
VAR_SEQ 435 435 D -> DVPPSGVP (in isoform 4).
{ECO:0000303|PubMed:18719945}.
/FTId=VSP_046616.
VAR_SEQ 957 961 GLPAS -> VSRRH (in isoform 3).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_028259.
VAR_SEQ 962 1955 Missing (in isoform 3).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_028260.
VAR_SEQ 1119 1125 LRVPSKS -> MTFSHSG (in isoform 2).
{ECO:0000303|PubMed:14570705}.
/FTId=VSP_028258.
VAR_SEQ 1456 1776 ILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSA
HVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVS
TNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSV
SLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKR
GSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDS
SFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELS
PSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISP
SACPLPPPPPISPPSPPPAPAPLAPPPDISPFSL -> MYE
MPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEEEPKKIK
KPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMI
FKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEE
ATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETP
SEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVK
EVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPE
AQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGP
WGYQVPAYDRSKNANQKKSPGANSEGYNTAL (in
isoform 4).
{ECO:0000303|PubMed:18719945}.
/FTId=VSP_046617.
VAR_SEQ 1456 1675 ILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSA
HVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVS
TNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSV
SLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKR
GSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDS
SFCFPRPHFSFSTLP -> MYEMPQYGSRRRLLPPAGQEEY
GEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAP
ECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLK
VASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMN
ARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKN
IKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL (in
isoform 5).
{ECO:0000303|PubMed:18719945}.
/FTId=VSP_046618.
VAR_SEQ 1676 1955 Missing (in isoform 5).
{ECO:0000303|PubMed:18719945}.
/FTId=VSP_046621.
VAR_SEQ 1777 1955 Missing (in isoform 4).
{ECO:0000303|PubMed:18719945}.
/FTId=VSP_046622.
VARIANT 19 19 S -> A (in dbSNP:rs11004439).
{ECO:0000269|PubMed:16369489,
ECO:0000269|PubMed:22815625}.
/FTId=VAR_028289.
VARIANT 134 134 R -> G (in DFNB23; dbSNP:rs137853003).
{ECO:0000269|PubMed:14570705,
ECO:0000269|PubMed:18719945}.
/FTId=VAR_024035.
VARIANT 134 134 R -> Q (in USH1F).
{ECO:0000269|PubMed:22815625}.
/FTId=VAR_071696.
VARIANT 174 174 N -> S (in dbSNP:rs145037203).
{ECO:0000269|PubMed:22815625}.
/FTId=VAR_071697.
VARIANT 178 178 D -> G (in USH1DF).
{ECO:0000269|PubMed:18719945}.
/FTId=VAR_069297.
VARIANT 262 262 G -> D (in DFNB23; dbSNP:rs137853002).
{ECO:0000269|PubMed:14570705}.
/FTId=VAR_024036.
VARIANT 380 380 G -> S (in dbSNP:rs10825269).
{ECO:0000269|PubMed:22815625}.
/FTId=VAR_028290.
VARIANT 435 435 D -> A (in dbSNP:rs4935502).
{ECO:0000269|PubMed:17974005,
ECO:0000269|PubMed:22815625}.
/FTId=VAR_028291.
VARIANT 929 929 R -> Q (in dbSNP:rs2135720).
{ECO:0000269|PubMed:11487575,
ECO:0000269|PubMed:17974005,
ECO:0000269|PubMed:22815625}.
/FTId=VAR_028292.
VARIANT 1273 1273 R -> S (in dbSNP:rs111033363).
{ECO:0000269|PubMed:22815625}.
/FTId=VAR_071698.
VARIANT 1342 1342 Q -> K (in USH1F; dbSNP:rs61731387).
{ECO:0000269|PubMed:15660226}.
/FTId=VAR_024037.
VARIANT 1576 1955 Missing (in DFNB23).
{ECO:0000269|PubMed:28281779}.
/FTId=VAR_079507.
VARIANT 1867 1867 Missing (in USH1F).
{ECO:0000269|PubMed:15660226}.
/FTId=VAR_024038.
CONFLICT 261 261 L -> S (in Ref. 1; AAK31581).
{ECO:0000305}.
CONFLICT 467 467 Q -> L (in Ref. 1; AAK31581).
{ECO:0000305}.
CONFLICT 1276 1276 Q -> R (in Ref. 1; AAK31581).
{ECO:0000305}.
STRAND 264 266 {ECO:0000244|PDB:5T4M}.
STRAND 281 287 {ECO:0000244|PDB:5T4M}.
HELIX 292 295 {ECO:0000244|PDB:5T4M}.
STRAND 309 311 {ECO:0000244|PDB:5T4M}.
STRAND 322 331 {ECO:0000244|PDB:5T4M}.
HELIX 334 337 {ECO:0000244|PDB:5T4M}.
STRAND 338 340 {ECO:0000244|PDB:5T4M}.
TURN 342 344 {ECO:0000244|PDB:5T4M}.
STRAND 347 349 {ECO:0000244|PDB:5T4M}.
TURN 355 357 {ECO:0000244|PDB:5T4M}.
STRAND 360 372 {ECO:0000244|PDB:5T4M}.
STRAND 377 386 {ECO:0000244|PDB:5T4M}.
STRAND 394 405 {ECO:0000244|PDB:5T4M}.
STRAND 415 417 {ECO:0000244|PDB:5T4M}.
STRAND 426 429 {ECO:0000244|PDB:5T4M}.
STRAND 442 447 {ECO:0000244|PDB:5T4M}.
TURN 449 451 {ECO:0000244|PDB:5T4M}.
STRAND 452 454 {ECO:0000244|PDB:5T4M}.
STRAND 456 461 {ECO:0000244|PDB:5T4M}.
STRAND 463 467 {ECO:0000244|PDB:5T4M}.
TURN 471 473 {ECO:0000244|PDB:5T4M}.
STRAND 476 484 {ECO:0000244|PDB:5T4M}.
STRAND 493 500 {ECO:0000244|PDB:5T4M}.
STRAND 512 519 {ECO:0000244|PDB:5T4M}.
STRAND 527 530 {ECO:0000244|PDB:5T4M}.
HELIX 539 541 {ECO:0000244|PDB:5T4M}.
STRAND 544 550 {ECO:0000244|PDB:5T4M}.
STRAND 555 558 {ECO:0000244|PDB:5T4M}.
TURN 560 562 {ECO:0000244|PDB:5T4M}.
STRAND 564 567 {ECO:0000244|PDB:5T4M}.
STRAND 578 587 {ECO:0000244|PDB:5T4M}.
TURN 591 593 {ECO:0000244|PDB:5T4M}.
STRAND 596 606 {ECO:0000244|PDB:5T4M}.
STRAND 818 829 {ECO:0000244|PDB:4XHZ}.
STRAND 837 840 {ECO:0000244|PDB:4XHZ}.
TURN 846 848 {ECO:0000244|PDB:4XHZ}.
STRAND 853 856 {ECO:0000244|PDB:4XHZ}.
HELIX 859 861 {ECO:0000244|PDB:4XHZ}.
TURN 862 864 {ECO:0000244|PDB:4XHZ}.
STRAND 865 867 {ECO:0000244|PDB:4XHZ}.
TURN 869 871 {ECO:0000244|PDB:4XHZ}.
STRAND 873 878 {ECO:0000244|PDB:4XHZ}.
HELIX 882 884 {ECO:0000244|PDB:4XHZ}.
STRAND 891 899 {ECO:0000244|PDB:4XHZ}.
STRAND 908 917 {ECO:0000244|PDB:4XHZ}.
STRAND 924 927 {ECO:0000244|PDB:4XHZ}.
STRAND 929 935 {ECO:0000244|PDB:4XHZ}.
STRAND 944 947 {ECO:0000244|PDB:4XHZ}.
STRAND 950 952 {ECO:0000244|PDB:4XHZ}.
HELIX 959 961 {ECO:0000244|PDB:4XHZ}.
STRAND 964 968 {ECO:0000244|PDB:4XHZ}.
HELIX 973 978 {ECO:0000244|PDB:4XHZ}.
STRAND 979 981 {ECO:0000244|PDB:4XHZ}.
TURN 983 985 {ECO:0000244|PDB:4XHZ}.
STRAND 987 992 {ECO:0000244|PDB:4XHZ}.
STRAND 1001 1009 {ECO:0000244|PDB:4XHZ}.
STRAND 1012 1014 {ECO:0000244|PDB:4XHZ}.
STRAND 1017 1026 {ECO:0000244|PDB:4XHZ}.
HELIX 1029 1031 {ECO:0000244|PDB:4XHZ}.
STRAND 1034 1036 {ECO:0000244|PDB:4XHZ}.
STRAND 1038 1040 {ECO:0000244|PDB:4XHZ}.
STRAND 1054 1057 {ECO:0000244|PDB:4XHZ}.
STRAND 1067 1074 {ECO:0000244|PDB:4XHZ}.
STRAND 1080 1082 {ECO:0000244|PDB:4XHZ}.
TURN 1084 1086 {ECO:0000244|PDB:4XHZ}.
STRAND 1088 1091 {ECO:0000244|PDB:4XHZ}.
TURN 1097 1099 {ECO:0000244|PDB:4XHZ}.
STRAND 1102 1111 {ECO:0000244|PDB:4XHZ}.
HELIX 1112 1115 {ECO:0000244|PDB:4XHZ}.
TURN 1116 1118 {ECO:0000244|PDB:4XHZ}.
STRAND 1127 1135 {ECO:0000244|PDB:4XHZ}.
SEQUENCE 1955 AA; 216069 MW; 23BA3A237CB188E7 CRC64;
MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSILFLL YHFQQSRGNN SVSEDRKHQQ VVMPFSSNTI EAHKSAHVDG
SLKSNKLKSA RKFTFLSDED DLSAHNPLYK ENISQVSTNS DISQRTDFVD PFSPKIQAKS
KSLRGPREKI QRLWSQSVSL PRRLMRKVPN RPEIIDLQQW QGTRQKAENE NTGICTNKRG
SSNPLLTTEE ANLTEKEEIR QGETLMIEGT EQLKSLSSDS SFCFPRPHFS FSTLPTVSRT
VELKSEPNVI SSPAECSLEL SPSRPCVLHS SLSRRETPIC MLPIETERNI FENFAHPPNI
SPSACPLPPP PPISPPSPPP APAPLAPPPD ISPFSLFCPP PSPPSIPLPL PPPTFFPLSV
STSGPPTPPL LPPFPTPLPP PPPSIPCPPP PSASFLSTEC VCITGVKCTT NLMPAEKIKS
SMTQLSTTTV CKTDPQREPK GILRHVKNLA ELEKSVANMY SQIEKNYLRT NVSELQTMCP
SEVTNMEITS EQNKGSLNNI VEGTEKQSHS QSTSL


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