(Q21121853)

Protocadherin-15

1 reference

stated in

Cadherin-like, protein family

1 reference

based on heuristic

inferred from protein domain or family

Cadherin conserved site, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

1 reference

13 November 2019

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

integral component of membrane

IEA

cell component

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

photoreceptor outer segment

IEA

1 reference

8 April 2019

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

1 reference

8 April 2019

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

2 references

1 reference

27 March 2018

Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96QU1&geneProductId=UniProtKB:Q96QU1

integral component of plasma membrane

IDA

1 reference

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

IBA

biological process

inner ear development

1 reference

8 April 2019

photoreceptor cell maintenance

IEA

1 reference

8 April 2019

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

sensory perception of light stimulus

IMP

1 reference

8 April 2019

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

sensory perception of sound

IMP

4 references

8 April 2019

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

8 April 2019

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

1 reference

8 April 2019

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

homophilic cell adhesion via plasma membrane adhesion molecules

IMP

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96QU1

1 reference

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96QU1&geneProductId=UniProtKB:Q96QU1

nervous system development

IBA

1 reference

27 March 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96QU1&geneProductId=UniProtKB:Q96QU1

1 reference

Cadherin conserved site

1 reference

stated in