USH1 protein network component sans (Q21136557)

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mammalian protein found in Homo sapiens

• USH1G
• Usher syndrome type-1G protein
• Usher syndrome 1G (autosomal recessive)
• scaffold protein containing ankyrin repeats and SAM domain

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Language	Label	Description	Also known as
English	USH1 protein network component sans	mammalian protein found in Homo sapiens	USH1G Usher syndrome type-1G protein Usher syndrome 1G (autosomal recessive) scaffold protein containing ankyrin repeats and SAM domain

Statements

instance of

protein

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

Q495M9

part of

Ankyrin repeat-containing domain superfamily

1 reference

stated in

InterPro Release 71.0

reference URL

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

Sterile alpha motif/pointed domain superfamily

1 reference

stated in

InterPro Release 71.0

reference URL

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

membrane protein

1 reference

based on heuristic

inferred from GOA cell component → membrane

USH1G, SAM domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Sterile alpha motif domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Ankyrin repeat-containing domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Ankyrin repeat, protein family

1 reference

based on heuristic

inferred from protein domain or family

found in taxon

Homo sapiens

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

Q495M9

encoded by

USH1G

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

Q495M9

molecular function

spectrin binding

determination method or standard

IDA

1 reference

retrieved

8 April 2019

stated in

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

GOA

curator

Mouse Genome Informatics

reference URL

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

determination method or standard

IDA

protein binding

determination method or standard

IPI

4 references

retrieved

8 April 2019

stated in

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

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IPI

retrieved

8 April 2019

stated in

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

GOA

curator

IntAct protein interaction database

reference URL

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

determination method or standard

IPI

retrieved

8 April 2019

stated in

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

GOA

curator

IntAct protein interaction database

reference URL

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

determination method or standard

IPI

retrieved

8 April 2019

stated in

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

GOA

curator

IntAct protein interaction database

reference URL

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

determination method or standard

IPI

protein homodimerization activity

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

identical protein binding

determination method or standard

IPI

1 reference

retrieved

8 April 2019

stated in

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

GOA

curator

IntAct protein interaction database

reference URL

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

determination method or standard

IPI

cell component

photoreceptor inner segment

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

cytoplasm

determination method or standard

IEA

2 references

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

ciliary basal body

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

cytosol

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

plasma membrane

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

cytoskeleton

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

membrane

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

photoreceptor connecting cilium

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

actin cytoskeleton

determination method or standard

ISS

IEA

2 references

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

ISS

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

biological process

inner ear receptor cell differentiation

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

photoreceptor cell maintenance

determination method or standard

IMP

1 reference

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

IMP

hearing

determination method or standard

IEA

IMP

5 references

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

IMP

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

IMP

retrieved

8 April 2019

stated in

GOA

curator

UniProt

UniProt protein ID

Q495M9

reference URL

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

determination method or standard

IEA

retrieved

8 April 2019

stated in

GOA

curator

InterPro

reference URL

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

determination method or standard

IEA

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

inner ear morphogenesis

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

inner ear receptor cell stereocilium organization

determination method or standard

IEA

1 reference

retrieved

8 April 2019

stated in

GOA

curator

Ensembl genome database project

reference URL

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

determination method or standard

IEA

sensory perception of light stimulus

determination method or standard

IEA

IMP

2 references

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

IMP

retrieved

8 April 2019

stated in

GOA

curator

InterPro

reference URL

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

determination method or standard

IEA

equilibrioception

determination method or standard

IEA

IMP

2 references

retrieved

8 April 2019

stated in

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

GOA

curator

HUGO Gene Nomenclature Committee

reference URL

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

determination method or standard

IMP

retrieved

8 April 2019

stated in

GOA

curator

InterPro

reference URL

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

determination method or standard

IEA

has part(s)

ankyrin repeat-containing domain

1 reference

stated in

InterPro Release 71.0

reference URL

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

ankyrin repeat

1 reference

stated in

InterPro Release 71.0

reference URL

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

sterile alpha motif domain

1 reference

stated in

InterPro Release 71.0

reference URL

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

USH1G, SAM domain

1 reference

stated in

InterPro Release 71.0

reference URL

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

Identifiers

RefSeq protein ID

NP_001269418

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

124590

NP_775748

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

124590

XP_011522598

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

124590

UniProt protein ID

Q495M9

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

Q495M9

Ensembl protein ID

ENSP00000480279

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000480279

ENSP00000462568

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000462568

PDB structure ID

2L7T

1 reference

stated in

UniProt

UniProt protein ID

Q495M9

retrieved

20 March 2016

language of work or name

English

3K1R

1 reference

stated in

UniProt

UniProt protein ID

Q495M9

retrieved

20 March 2016

language of work or name

English

3PVL

1 reference

stated in

UniProt

UniProt protein ID

Q495M9

retrieved

20 March 2016

language of work or name

English

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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