(Q29532679)

http://www.ebi.ac.uk/interpro/protein/E9Q9W7

PDZ domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

25 May 2022

1 reference

25 May 2022

4 references

14 February 2019

Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

PDZD7-MYO7A complex identified in enriched stereocilia membranes.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

protein homodimerization activity

IPI

1 reference

14 February 2019

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

protein heterodimerization activity

IPI

1 reference

14 February 2019

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

IPI

cell component

stereocilia ankle link

1 reference

31 January 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=E9Q9W7&geneProductId=UniProtKB:E9Q9W7

3 references

3 references

1 reference

14 February 2019

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

photoreceptor inner segment

IDA

1 reference

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

PDZD7-MYO7A complex identified in enriched stereocilia membranes.

stereocilia ankle link

3 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

stereocilia ankle link complex

1 reference

10 September 2018

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

http://www.ebi.ac.uk/QuickGO/annotations?protein=E9Q9W7&geneProductId=UniProtKB:E9Q9W7

1 reference

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

photoreceptor connecting cilium

1 reference

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

1 reference

10 September 2018

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

http://www.ebi.ac.uk/QuickGO/annotations?protein=E9Q9W7&geneProductId=UniProtKB:E9Q9W7

1 reference

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

3 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

PDZD7-MYO7A complex identified in enriched stereocilia membranes.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

establishment of protein localization

IEA

biological process

1 reference

14 February 2019

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

detection of mechanical stimulus involved in sensory perception of sound

IMP

1 reference

14 February 2019

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

auditory receptor cell stereocilium organization

IMP

1 reference

31 January 2018

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

http://www.ebi.ac.uk/QuickGO/annotations?protein=E9Q9W7&geneProductId=UniProtKB:E9Q9W7

auditory receptor cell development

IMP

1 reference

14 February 2019

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

1 reference

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:E9Q9W7

auditory receptor cell stereocilium organization

1 reference

InterPro Release 71.0