Reviewed,
UniProtKB/Swiss-Prot Q9BZA8 (PC11Y_HUMAN)
Last modified
October 13, 2009.
Version 60.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended 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 |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1340 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 | 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 process | Cell adhesion |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Domain | Repeat Signal Transmembrane |
| Ligand | Calcium |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | homophilic cell adhesion Inferred from electronic annotation. Source: InterPro |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein bindingInferred 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | Potential | ||||||
| Chain | 29 – 1340 | 1312 | Protocadherin-11 Y-linked | PRO_0000232764 | |||||
Regions | |||||||||
| Topological domain | 29 – 844 | 816 | Extracellular Potential | ||||||
| Transmembrane | 845 – 865 | 21 | Potential | ||||||
| Topological domain | 866 – 1340 | 475 | Cytoplasmic Potential | ||||||
| Domain | 58 – 171 | 114 | Cadherin 1 | ||||||
| Domain | 172 – 281 | 110 | Cadherin 2 | ||||||
| Domain | 282 – 387 | 106 | Cadherin 3 | ||||||
| Domain | 394 – 498 | 105 | Cadherin 4 | ||||||
| Domain | 499 – 602 | 104 | Cadherin 5 | ||||||
| Domain | 603 – 705 | 103 | Cadherin 6 | ||||||
| Domain | 709 – 827 | 119 | Cadherin 7 | ||||||
| Compositional bias | 900 – 907 | 8 | Poly-Lys | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 59 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 80 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 86 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 376 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 585 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 805 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 21 | 21 | MFRVG…PLLLV → MTVGFNSDIS in isoform 3. | VSP_017996 | |||||
| Alternative sequence | 1044 – 1053 | 10 | SQRRVTFHLP → VGIQVSNTTF in isoform 4. | VSP_017997 | |||||
| Alternative sequence | 1044 – 1048 | 5 | SQRRV → TDSRT in isoform 2 and isoform 3. | VSP_017998 | |||||
| Alternative sequence | 1049 – 1340 | 292 | Missing in isoform 2 and isoform 3. | VSP_017999 | |||||
| Alternative sequence | 1054 – 1340 | 287 | Missing in isoform 4. | VSP_018000 | |||||
| Natural variant | 917 | 1 | V → F: dbSNP rs2524543. Ref.6 Ref.3 | VAR_026020 | |||||
| Natural variant | 1012 | 1 | N → K: dbSNP rs2563389. Ref.6 Ref.3 | VAR_026021 | |||||
| Natural variant | 1320 | 1 | A → T: dbSNP rs2556900. | VAR_048576 | |||||
Sequences
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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. 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. 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. | |
| IPI | IPI00018320. IPI00104649. IPI00218387. IPI00745536. |
| RefSeq | NP_116753.1. NP_116754.1. NP_116755.1. |
| UniGene | Hs.655673 Hs.661308 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1FF5 based on UniProtKB P09803. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9BZA8. |
Proteomic databases | |
| PRIDE | Q9BZA8. |
Genome annotation databases | |
| Ensembl | ENST00000215473; 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] |
| GeneID | 83259. |
| KEGG | hsa:83259. |
| UCSC | uc004fql.1. human. uc004fqn.1. human. uc004fqo.1. human. |
Organism-specific databases | |
| CTD | 83259. |
| GeneCards | GC0YP004911. |
| H-InvDB | HIX0017181. |
| HGNC | HGNC:15813. PCDH11Y. |
| HPA | HPA000432. |
| MIM | 400022. gene. |
| PharmGKB | PA32997. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9BZA8. |
Gene expression databases | |
| Genevestigator | Q9BZA8. |
| GermOnline | ENSG00000099715. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002126. Cadherin. IPR013164. Cadherin_N. IPR013585. Protocadherin. [Graphical view] |
| Gene3D | G3DSA:2.60.40.60. Cadherin. 6 hits. |
| Pfam | PF00028. Cadherin. 6 hits. PF08266. Cadherin_2. 1 hit. PF08374. Protocadherin. 1 hit. [Graphical view] |
| PRINTS | PR00205. CADHERIN. |
| SMART | SM00112. CA. 6 hits. [Graphical view] |
| PROSITE | PS00232. CADHERIN_1. 5 hits. PS50268. CADHERIN_2. 7 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 72287. |
| SOURCE | Search... |
Entry information
| Entry name | PC11Y_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BZA8 Secondary accession number(s): Q70LR6 Q9H4E1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
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 |

Clusters with


