(Q21136557)

http://www.ebi.ac.uk/interpro/protein/Q495M9

Sterile alpha motif/pointed domain superfamily

1 reference

stated in

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q495M9

membrane proteins

1 reference

inferred from GOA cell component → membrane

USH1G, SAM domain, protein family

1 reference

Sterile alpha motif domain, protein family

1 reference

Ankyrin repeat-containing domain, protein family

1 reference

Ankyrin repeat, protein family

1 reference

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

1 reference

13 November 2019

1 reference

13 November 2019

1 reference

8 April 2019

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

4 references

8 April 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:Q495M9

8 April 2019

LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

protein homodimerization activity

IPI

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

identical protein binding

1 reference

8 April 2019

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

photoreceptor inner segment

IPI

cell component

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

photoreceptor connecting cilium

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

inner ear receptor cell differentiation

biological process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

photoreceptor cell maintenance

1 reference

8 April 2019

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

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

sensory perception of sound

IMP

5 references

8 April 2019

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

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

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

inner ear morphogenesis

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9

inner ear receptor cell stereocilium organization

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q495M9