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Protocadherin-11 Y-linked (Protocadherin-11) (Protocadherin on the Y chromosome) (PCDH-Y) (Protocadherin prostate cancer) (Protocadherin-PC) (Protocadherin-22)

 PC11Y_HUMAN             Reviewed;        1340 AA.
Q9BZA8; Q70LR6; Q70LR8; Q70LS0; Q70LS1; Q70LS2; Q70LS3; Q70LS4;
Q70LS5; Q8WY34; Q9BZA9; Q9H4E1;
18-APR-2006, integrated into UniProtKB/Swiss-Prot.
01-JUN-2001, sequence version 1.
18-JUL-2018, entry version 130.
RecName: Full=Protocadherin-11 Y-linked;
Short=Protocadherin-11;
AltName: Full=Protocadherin on the Y chromosome;
Short=PCDH-Y;
AltName: Full=Protocadherin prostate cancer;
Short=Protocadherin-PC;
AltName: Full=Protocadherin-22;
Flags: Precursor;
Name=PCDH11Y; Synonyms=PCDH11, PCDH22, PCDHY;
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 3), AND TISSUE SPECIFICITY.
TISSUE=Brain;
PubMed=11003707; DOI=10.1007/s003350010177;
Blanco P., Sargent C.A., Boucher C., Mitchell M., Affara N.;
"Conservation of PCDHX in mammals; expression of human X/Y genes
predominantly in brain.";
Mamm. Genome 11:906-914(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), INTERACTION WITH CTNNB1,
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
TISSUE=Prostatic carcinoma;
PubMed=12420223; DOI=10.1038/sj.onc.1205991;
Chen M.-W., Vacherot F., De La Taille A., Gil-Diez-De-Medina S.,
Shen R., Friedman R.A., Burchardt M., Chopin D.K., Buttyan R.;
"The emergence of protocadherin-PC expression during the acquisition
of apoptosis-resistance by prostate cancer cells.";
Oncogene 21:7861-7871(2002).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANTS PHE-917
AND LYS-1012.
TISSUE=Brain;
PubMed=12815422; DOI=10.1038/nature01722;
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S.,
Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T.,
Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G.,
Fulton L., Fulton R., Graves T.A., Hou S.-F., Latrielle P.,
Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W.,
Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K.,
Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H.,
Wilson R.K., Rozen S., Page D.C.;
"The male-specific region of the human Y chromosome is a mosaic of
discrete sequence classes.";
Nature 423:825-837(2003).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-1109 AND 1119-1340, NUCLEOTIDE
SEQUENCE [MRNA] OF 213-1340 (ISOFORM 4), TISSUE SPECIFICITY, AND
ALTERNATIVE SPLICING.
PubMed=14727141; DOI=10.1007/s00335-003-3028-7;
Blanco-Arias P., Sargent C.A., Affara N.A.;
"Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms
encoding variant signal peptides and cytoplasmic domains.";
Mamm. Genome 15:41-52(2004).
[5]
CHROMOSOMAL TRANSLOCATION WITH ROBO2.
PubMed=17357069; DOI=10.1086/512735;
Lu W., van Eerde A.M., Fan X., Quintero-Rivera F., Kulkarni S.,
Ferguson H., Kim H.-G., Fan Y., Xi Q., Li Q.-G., Sanlaville D.,
Andrews W., Sundaresan V., Bi W., Yan J., Giltay J.C., Wijmenga C.,
de Jong T.P.V.M., Feather S.A., Woolf A.S., Rao Y., Lupski J.R.,
Eccles M.R., Quade B.J., Gusella J.F., Morton C.C., Maas R.L.;
"Disruption of ROBO2 is associated with urinary tract anomalies and
confers risk of vesicoureteral reflux.";
Am. J. Hum. Genet. 80:616-632(2007).
[6]
VARIANTS PHE-917 AND LYS-1012, AND TISSUE SPECIFICITY.
PubMed=16331680; DOI=10.1002/ajmg.b.30229;
Durand C.M., Kappeler C., Betancur C., Delorme R., Quach H.,
Goubran-Botros H., Melke J., Nygren G., Chabane N., Bellivier F.,
Szoke A., Schurhoff F., Rastam M., Anckarsaeter H., Gillberg C.,
Leboyer M., Bourgeron T.;
"Expression and genetic variability of PCDH11Y, a gene specific to
Homo sapiens and candidate for susceptibility to psychiatric
disorders.";
Am. J. Med. Genet. B Neuropsychiatr. Genet. 141:67-70(2006).
-!- FUNCTION: Potential calcium-dependent cell-adhesion protein.
-!- SUBUNIT: Interacts with CTNNB1. {ECO:0000269|PubMed:12420223}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass
type I membrane protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Comment=Additional isoforms seem to exist.;
Name=1;
IsoId=Q9BZA8-1; Sequence=Displayed;
Name=2;
IsoId=Q9BZA8-2; Sequence=VSP_017998, VSP_017999;
Name=3;
IsoId=Q9BZA8-3; Sequence=VSP_017996, VSP_017998, VSP_017999;
Name=4;
IsoId=Q9BZA8-4; Sequence=VSP_017997, VSP_018000;
-!- TISSUE SPECIFICITY: Expressed strongly in fetal brain and brain
(cortex, amygdala, thalamus, substantia nigra, hippocampus,
caudate nucleus and corpus callosum). Expressed at low level in
testis. Expressed in apoptosis-resistant cells.
{ECO:0000269|PubMed:11003707, ECO:0000269|PubMed:12420223,
ECO:0000269|PubMed:14727141, ECO:0000269|PubMed:16331680}.
-!- DISEASE: Note=A chromosomal aberration involving PCDH11Y is a
cause of multiple congenital abnormalities, including severe
bilateral vesicoureteral reflux (VUR) with ureterovesical junction
defects. Translocation t(Y;3)(p11;p12) with ROBO2.
-----------------------------------------------------------------------
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EMBL; AJ276803; CAC13122.1; -; mRNA.
EMBL; AF277053; AAL55729.1; -; mRNA.
EMBL; AF332216; AAK13468.1; -; mRNA.
EMBL; AF332217; AAK13469.1; -; mRNA.
EMBL; AJ564958; CAD92429.1; -; mRNA.
EMBL; AJ564959; CAD92430.1; -; mRNA.
EMBL; AJ564960; CAD92431.1; -; mRNA.
EMBL; AJ564961; CAD92432.1; -; mRNA.
EMBL; AJ564962; CAD92433.1; -; mRNA.
EMBL; AJ564963; CAD92434.1; -; mRNA.
EMBL; AJ564966; CAD92437.1; -; mRNA.
EMBL; AJ564969; CAD92440.1; -; mRNA.
CCDS; CCDS14776.1; -. [Q9BZA8-3]
CCDS; CCDS14777.1; -. [Q9BZA8-2]
CCDS; CCDS76066.1; -. [Q9BZA8-1]
RefSeq; NP_001265548.1; NM_001278619.1. [Q9BZA8-3]
RefSeq; NP_116753.1; NM_032971.2. [Q9BZA8-3]
RefSeq; NP_116754.1; NM_032972.2. [Q9BZA8-2]
RefSeq; NP_116755.1; NM_032973.2. [Q9BZA8-1]
RefSeq; XP_016885571.1; XM_017030082.1. [Q9BZA8-3]
UniGene; Hs.655673; -.
UniGene; Hs.661308; -.
UniGene; Hs.689829; -.
UniGene; Hs.689830; -.
UniGene; Hs.689831; -.
ProteinModelPortal; Q9BZA8; -.
SMR; Q9BZA8; -.
BioGrid; 123635; 1.
iPTMnet; Q9BZA8; -.
PhosphoSitePlus; Q9BZA8; -.
BioMuta; PCDH11Y; -.
DMDM; 74762719; -.
EPD; Q9BZA8; -.
PeptideAtlas; Q9BZA8; -.
PRIDE; Q9BZA8; -.
ProteomicsDB; 79796; -.
ProteomicsDB; 79797; -. [Q9BZA8-2]
ProteomicsDB; 79798; -. [Q9BZA8-3]
ProteomicsDB; 79799; -. [Q9BZA8-4]
DNASU; 83259; -.
Ensembl; ENST00000215473; ENSP00000215473; ENSG00000099715. [Q9BZA8-4]
Ensembl; ENST00000333703; ENSP00000330552; ENSG00000099715. [Q9BZA8-3]
Ensembl; ENST00000362095; ENSP00000355419; ENSG00000099715. [Q9BZA8-2]
Ensembl; ENST00000400457; ENSP00000383306; ENSG00000099715. [Q9BZA8-1]
Ensembl; ENST00000622698; ENSP00000482115; ENSG00000099715. [Q9BZA8-3]
GeneID; 83259; -.
KEGG; hsa:83259; -.
UCSC; uc004fql.3; human. [Q9BZA8-1]
CTD; 83259; -.
DisGeNET; 83259; -.
EuPathDB; HostDB:ENSG00000099715.14; -.
GeneCards; PCDH11Y; -.
H-InvDB; HIX0177655; -.
HGNC; HGNC:15813; PCDH11Y.
HPA; HPA000432; -.
MIM; 400022; gene.
neXtProt; NX_Q9BZA8; -.
OpenTargets; ENSG00000099715; -.
PharmGKB; PA32997; -.
eggNOG; KOG3594; Eukaryota.
eggNOG; ENOG410XQHI; LUCA.
GeneTree; ENSGT00920000148958; -.
HOVERGEN; HBG053523; -.
InParanoid; Q9BZA8; -.
KO; K16498; -.
OMA; TFEFIPL; -.
OrthoDB; EOG091G011P; -.
PhylomeDB; Q9BZA8; -.
TreeFam; TF320624; -.
ChiTaRS; PCDH11Y; human.
GenomeRNAi; 83259; -.
PRO; PR:Q9BZA8; -.
Proteomes; UP000005640; Chromosome Y.
Bgee; ENSG00000099715; -.
ExpressionAtlas; Q9BZA8; baseline and differential.
Genevisible; Q9BZA8; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
InterPro; IPR002126; Cadherin.
InterPro; IPR015919; Cadherin-like.
InterPro; IPR020894; Cadherin_CS.
InterPro; IPR013164; Cadherin_N.
InterPro; IPR013585; Protocadherin.
Pfam; PF00028; Cadherin; 6.
Pfam; PF08266; Cadherin_2; 1.
Pfam; PF08374; Protocadherin; 1.
PRINTS; PR00205; CADHERIN.
SMART; SM00112; CA; 6.
SUPFAM; SSF49313; SSF49313; 6.
PROSITE; PS00232; CADHERIN_1; 5.
PROSITE; PS50268; CADHERIN_2; 7.
1: Evidence at protein level;
Alternative splicing; Calcium; Cell adhesion; Cell membrane;
Chromosomal rearrangement; Complete proteome; Glycoprotein; Membrane;
Polymorphism; Reference proteome; Repeat; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 28 {ECO:0000255}.
CHAIN 29 1340 Protocadherin-11 Y-linked.
/FTId=PRO_0000232764.
TOPO_DOM 29 844 Extracellular. {ECO:0000255}.
TRANSMEM 845 865 Helical. {ECO:0000255}.
TOPO_DOM 866 1340 Cytoplasmic. {ECO:0000255}.
DOMAIN 58 171 Cadherin 1. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 172 281 Cadherin 2. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 282 387 Cadherin 3. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 394 498 Cadherin 4. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 499 602 Cadherin 5. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 603 705 Cadherin 6. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 709 827 Cadherin 7. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
COMPBIAS 900 907 Poly-Lys.
CARBOHYD 59 59 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 80 80 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 86 86 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 376 376 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 585 585 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 805 805 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 21 MFRVGFLIISSSSSLSPLLLV -> MTVGFNSDIS (in
isoform 3). {ECO:0000303|PubMed:11003707,
ECO:0000303|PubMed:12420223}.
/FTId=VSP_017996.
VAR_SEQ 1044 1053 SQRRVTFHLP -> VGIQVSNTTF (in isoform 4).
{ECO:0000303|PubMed:14727141}.
/FTId=VSP_017997.
VAR_SEQ 1044 1048 SQRRV -> TDSRT (in isoform 2 and isoform
3). {ECO:0000303|PubMed:11003707,
ECO:0000303|PubMed:12420223,
ECO:0000303|PubMed:12815422}.
/FTId=VSP_017998.
VAR_SEQ 1049 1340 Missing (in isoform 2 and isoform 3).
{ECO:0000303|PubMed:11003707,
ECO:0000303|PubMed:12420223,
ECO:0000303|PubMed:12815422}.
/FTId=VSP_017999.
VAR_SEQ 1054 1340 Missing (in isoform 4).
{ECO:0000303|PubMed:14727141}.
/FTId=VSP_018000.
VARIANT 917 917 V -> F (in dbSNP:rs2524543).
{ECO:0000269|PubMed:12815422,
ECO:0000269|PubMed:16331680}.
/FTId=VAR_026020.
VARIANT 1012 1012 N -> K (in dbSNP:rs2563389).
{ECO:0000269|PubMed:12815422,
ECO:0000269|PubMed:16331680}.
/FTId=VAR_026021.
VARIANT 1320 1320 A -> T (in dbSNP:rs2556900).
/FTId=VAR_048576.
SEQUENCE 1340 AA; 146775 MW; 10C1A56510FF4014 CRC64;
MFRVGFLIIS SSSSLSPLLL VSVVRVNTTN CHKCLLSGTY IFAVLLVCVV FHSGAQEKNY
TIREEIPENV LIGNLLKDLN LSLIPNKSLT TTMQFKLVYK TGDVPLIRIE EDTGEIFTTG
ARIDREKLCA GIPRDEHCFY EVEVAILPDE IFRLVKIRFL IEDINDNAPL FPATVINISI
PENSAINSKY TLPAAVDPDV GINGVQNYEL IKSQNIFGLD VIETPEGDKM PQLIVQKELD
REEKDTYVMK VKVEDGGFPQ RSSTAILQVS VTDTNDNHPV FKETEIEVSI PENAPVGTSV
TQLHATDADI GENAKIHFSF SNLVSNIARR LFHLNATTGL ITIKEPLDRE ETPNHKLLVL
ASDGGLMPAR AMVLVNVTDV NDNVPSIDIR YIVNPVNDTV VLSENIPLNT KIALITVTDK
DADHNGRVTC FTDHEIPFRL RPVFSNQFLL ENAAYLDYES TKEYAIKLLA ADAGKPPLNQ
SAMLFIKVKD ENDNAPVFTQ SFVTVSIPEN NSPGIQLMKV SATDADSGPN AEINYLLGPD
APPEFSLDRR TGMLTVVKKL DREKEDKYLF TILAKDNGVP PLTSNVTVFV SIIDQNDNSP
VFTHNEYKFY VPENLPRHGT VGLITVTDPD YGDNSAVTLS ILDENDDFTI DSQTGVIRPN
ISFDREKQES YTFYVKAEDG GRVSRSSSAK VTINVVDVND NKPVFIVPPY NYSYELVLPS
TNPGTVVFQV IAVDNDTGMN AEVRYSIVGG NTRDLFAIDQ ETGNITLMEK CDVTDLGLHR
VLVKANDLGQ PDSLFSVVIV NLFVNESVTN ATLINELVRK SIEAPVTPNT EIADVSSPTS
DYVKILVAAV AGTITVVVVI FITAVVRCRQ APHLKAAQKN MQNSEWATPN PENRQMIMMK
KKKKKKKHSP KNLLLNVVTI EETKADDVDS DGNRVTLDLP IDLEEQTMGK YNWVTTPTTF
KPDSPDLARH YKSASPQPAF QIQPETPLNL KHHIIQELPL DNTFVACDSI SNCSSSSSDP
YSVSDCGYPV TTFEVPVSVH TRPSQRRVTF HLPEGSQESS SDGGLGDHDA GSLTSTSHGL
PLGYPQEEYF DRATPSNRTE GDGNSDPEST FIPGLKKEIT VQPTVEEASD NCTQECLIYG
HSDACWMPAS LDHSSSSQAQ ASALCHSPPL SQASTQHHSP PVTQTIVLCH SPPVTQTIAL
CHSPPPIQVS ALHHSPPLVQ GTALHHSPPS AQASALCYSP PLAQAAAISH SSSLPQVIAL
HRSQAQSSVS LQQGWVQGAN GLCSVDQGVQ GSATSQFYTM SERLHPSDDS IKVIPLTTFA
PRQQARPSRG DSPIMETHPL


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