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Reviewed, UniProtKB/Swiss-Prot Q9BZA8 (PC11Y_HUMAN)

Last modified October 13, 2009. Version 60. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Protocadherin-11 Y-linked
      Short name=Protocadherin-11
Alternative name(s):
    Protocadherin-22
    Protocadherin on the Y chromosome
      Short name=PCDH-Y
    Protocadherin prostate cancer
      Short name=Protocadherin-PC
Gene names
Name: PCDH11Y
Synonyms: PCDH11, PCDH22, PCDHY
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1340 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Potential calcium-dependent cell-adhesion protein.

Subunit structure

Interacts with CTNNB1. Ref.2

Subcellular location

Cell membrane; Single-pass type I membrane protein Potential.

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. Ref.2 Ref.1 Ref.4 Ref.6

Involvement in disease

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.

Sequence similarities

Contains 7 cadherin domains.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DomainRepeat
Signal
Transmembrane
   LigandCalcium
   PTMGlycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processhomophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functioncalcium ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9BZA8-1)

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: Q9BZA8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1044-1048: SQRRV → TDSRT
     1049-1340: Missing.
Isoform 3 (identifier: Q9BZA8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MFRVGFLIISSSSSLSPLLLV → MTVGFNSDIS
     1044-1048: SQRRV → TDSRT
     1049-1340: Missing.
Isoform 4 (identifier: Q9BZA8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1044-1053: SQRRVTFHLP → VGIQVSNTTF
     1054-1340: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 13401312Protocadherin-11 Y-linked
PRO_0000232764

Regions

Topological domain29 – 844816Extracellular Potential
Transmembrane845 – 86521 Potential
Topological domain866 – 1340475Cytoplasmic Potential
Domain58 – 171114Cadherin 1
Domain172 – 281110Cadherin 2
Domain282 – 387106Cadherin 3
Domain394 – 498105Cadherin 4
Domain499 – 602104Cadherin 5
Domain603 – 705103Cadherin 6
Domain709 – 827119Cadherin 7
Compositional bias900 – 9078Poly-Lys

Amino acid modifications

Glycosylation591N-linked (GlcNAc...) Potential
Glycosylation801N-linked (GlcNAc...) Potential
Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation3761N-linked (GlcNAc...) Potential
Glycosylation5851N-linked (GlcNAc...) Potential
Glycosylation8051N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2121MFRVG…PLLLV → MTVGFNSDIS in isoform 3.
VSP_017996
Alternative sequence1044 – 105310SQRRVTFHLP → VGIQVSNTTF in isoform 4.
VSP_017997
Alternative sequence1044 – 10485SQRRV → TDSRT in isoform 2 and isoform 3.
VSP_017998
Alternative sequence1049 – 1340292Missing in isoform 2 and isoform 3.
VSP_017999
Alternative sequence1054 – 1340287Missing in isoform 4.
VSP_018000
Natural variant9171V → F: dbSNP rs2524543. Ref.6 Ref.3
VAR_026020
Natural variant10121N → K: dbSNP rs2563389. Ref.6 Ref.3
VAR_026021
Natural variant13201A → T: dbSNP rs2556900.
VAR_048576

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 10C1A56510FF4014

FASTA1,340146,775
        10         20         30         40         50         60 
MFRVGFLIIS SSSSLSPLLL VSVVRVNTTN CHKCLLSGTY IFAVLLVCVV FHSGAQEKNY 

        70         80         90        100        110        120 
TIREEIPENV LIGNLLKDLN LSLIPNKSLT TTMQFKLVYK TGDVPLIRIE EDTGEIFTTG 

       130        140        150        160        170        180 
ARIDREKLCA GIPRDEHCFY EVEVAILPDE IFRLVKIRFL IEDINDNAPL FPATVINISI 

       190        200        210        220        230        240 
PENSAINSKY TLPAAVDPDV GINGVQNYEL IKSQNIFGLD VIETPEGDKM PQLIVQKELD 

       250        260        270        280        290        300 
REEKDTYVMK VKVEDGGFPQ RSSTAILQVS VTDTNDNHPV FKETEIEVSI PENAPVGTSV 

       310        320        330        340        350        360 
TQLHATDADI GENAKIHFSF SNLVSNIARR LFHLNATTGL ITIKEPLDRE ETPNHKLLVL 

       370        380        390        400        410        420 
ASDGGLMPAR AMVLVNVTDV NDNVPSIDIR YIVNPVNDTV VLSENIPLNT KIALITVTDK 

       430        440        450        460        470        480 
DADHNGRVTC FTDHEIPFRL RPVFSNQFLL ENAAYLDYES TKEYAIKLLA ADAGKPPLNQ 

       490        500        510        520        530        540 
SAMLFIKVKD ENDNAPVFTQ SFVTVSIPEN NSPGIQLMKV SATDADSGPN AEINYLLGPD 

       550        560        570        580        590        600 
APPEFSLDRR TGMLTVVKKL DREKEDKYLF TILAKDNGVP PLTSNVTVFV SIIDQNDNSP 

       610        620        630        640        650        660 
VFTHNEYKFY VPENLPRHGT VGLITVTDPD YGDNSAVTLS ILDENDDFTI DSQTGVIRPN 

       670        680        690        700        710        720 
ISFDREKQES YTFYVKAEDG GRVSRSSSAK VTINVVDVND NKPVFIVPPY NYSYELVLPS 

       730        740        750        760        770        780 
TNPGTVVFQV IAVDNDTGMN AEVRYSIVGG NTRDLFAIDQ ETGNITLMEK CDVTDLGLHR 

       790        800        810        820        830        840 
VLVKANDLGQ PDSLFSVVIV NLFVNESVTN ATLINELVRK SIEAPVTPNT EIADVSSPTS 

       850        860        870        880        890        900 
DYVKILVAAV AGTITVVVVI FITAVVRCRQ APHLKAAQKN MQNSEWATPN PENRQMIMMK 

       910        920        930        940        950        960 
KKKKKKKHSP KNLLLNVVTI EETKADDVDS DGNRVTLDLP IDLEEQTMGK YNWVTTPTTF 

       970        980        990       1000       1010       1020 
KPDSPDLARH YKSASPQPAF QIQPETPLNL KHHIIQELPL DNTFVACDSI SNCSSSSSDP 

      1030       1040       1050       1060       1070       1080 
YSVSDCGYPV TTFEVPVSVH TRPSQRRVTF HLPEGSQESS SDGGLGDHDA GSLTSTSHGL 

      1090       1100       1110       1120       1130       1140 
PLGYPQEEYF DRATPSNRTE GDGNSDPEST FIPGLKKEIT VQPTVEEASD NCTQECLIYG 

      1150       1160       1170       1180       1190       1200 
HSDACWMPAS LDHSSSSQAQ ASALCHSPPL SQASTQHHSP PVTQTIVLCH SPPVTQTIAL 

      1210       1220       1230       1240       1250       1260 
CHSPPPIQVS ALHHSPPLVQ GTALHHSPPS AQASALCYSP PLAQAAAISH SSSLPQVIAL 

      1270       1280       1290       1300       1310       1320 
HRSQAQSSVS LQQGWVQGAN GLCSVDQGVQ GSATSQFYTM SERLHPSDDS IKVIPLTTFA 

      1330       1340 
PRQQARPSRG DSPIMETHPL 

« Hide

Isoform 2.

Checksum: AC0796ACEBD304E9
Show »

FASTA1,048115,920
Isoform 3.

Checksum: 72CB8AB1EBA9ACCC
Show »

FASTA1,037114,723
Isoform 4.

Checksum: 0DD1C6721B4F6553
Show »

FASTA1,053116,406

References

[1]"Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain."
Blanco P., Sargent C.A., Boucher C., Mitchell M., Affara N.
Mamm. Genome 11:906-914(2000) [PubMed: 11003707] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
Tissue: Brain.
[2]"The emergence of protocadherin-PC expression during the acquisition of apoptosis-resistance by prostate cancer cells."
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.
Oncogene 21:7861-7871(2002) [PubMed: 12420223] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), INTERACTION WITH CTNNB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Tissue: Prostatic carcinoma.
[3]"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes."
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. expand/collapse author list , 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.
Nature 423:825-837(2003) [PubMed: 12815422] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS PHE-917 AND LYS-1012.
Tissue: Brain.
[4]"Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains."
Blanco-Arias P., Sargent C.A., Affara N.A.
Mamm. Genome 15:41-52(2004) [PubMed: 14727141] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1109 AND 1119-1340, NUCLEOTIDE SEQUENCE [MRNA] OF 213-1340 (ISOFORM 4), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
[5]"Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux."
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. expand/collapse author list , 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.
Am. J. Hum. Genet. 80:616-632(2007) [PubMed: 17357069] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH ROBO2.
[6]"Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders."
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.
Am. J. Med. Genet. B Neuropsychiatr. Genet. 141:67-70(2006) [PubMed: 16331680] [Abstract]
Cited for: VARIANTS PHE-917 AND LYS-1012, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

AJ276803 mRNA. Translation: CAC13122.1.
AF277053 mRNA. Translation: AAL55729.1.
AF332216 mRNA. Translation: AAK13468.1.
AF332217 mRNA. Translation: AAK13469.1.
AJ564958 mRNA. Translation: CAD92429.1.
AJ564959 mRNA. Translation: CAD92430.1.
AJ564960 mRNA. Translation: CAD92431.1.
AJ564961 mRNA. Translation: CAD92432.1.
AJ564962 mRNA. Translation: CAD92433.1.
AJ564963 mRNA. Translation: CAD92434.1.
AJ564966 mRNA. Translation: CAD92437.1.
AJ564969 mRNA. Translation: CAD92440.1.
IPIIPI00018320.
IPI00104649.
IPI00218387.
IPI00745536.
RefSeqNP_116753.1.
NP_116754.1.
NP_116755.1.
UniGeneHs.655673
Hs.661308

3D structure databases

HSSPHSSP built from PDB template 1FF5 based on UniProtKB P09803.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9BZA8.

Proteomic databases

PRIDEQ9BZA8.

Genome annotation databases

EnsemblENST00000215473; ENSP00000215473; ENSG00000099715; Homo sapiens. [Genome view]
ENST00000333703; ENSP00000330552; ENSG00000099715; Homo sapiens. [Genome view]
ENST00000362095; ENSP00000355419; ENSG00000099715; Homo sapiens. [Genome view]
ENST00000400457; ENSP00000383306; ENSG00000099715; Homo sapiens. [Genome view]
GeneID83259.
KEGGhsa:83259.
UCSCuc004fql.1. human.
uc004fqn.1. human.
uc004fqo.1. human.

Organism-specific databases

CTD83259.
GeneCardsGC0YP004911.
H-InvDBHIX0017181.
HGNCHGNC:15813. PCDH11Y.
HPAHPA000432.
MIM400022. gene.
PharmGKBPA32997.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9BZA8.

Gene expression databases

GenevestigatorQ9BZA8.
GermOnlineENSG00000099715. Homo sapiens.

Family and domain databases

InterProIPR002126. Cadherin.
IPR013164. Cadherin_N.
IPR013585. Protocadherin.
[Graphical view]
Gene3DG3DSA:2.60.40.60. Cadherin. 6 hits.
PfamPF00028. Cadherin. 6 hits.
PF08266. Cadherin_2. 1 hit.
PF08374. Protocadherin. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 6 hits.
[Graphical view]
PROSITEPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 7 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio72287.
SOURCESearch...

Entry information

Entry namePC11Y_HUMAN
AccessionPrimary (citable) accession number: Q9BZA8
Secondary accession number(s): Q70LR6 expand/collapse secondary AC list , Q70LR8, Q70LS0, Q70LS1, Q70LS2, Q70LS3, Q70LS4, Q70LS5, Q8WY34, Q9BZA9, Q9H4E1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: October 13, 2009
This is version 60 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome Y

Human chromosome Y: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents