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Q80T11 (USH1G_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Usher syndrome type-1G protein homolog
Alternative name(s):
Jackson shaker protein
Scaffold protein containing ankyrin repeats and SAM domain
Gene names
Name:Ush1g
Synonyms:Sans
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length461 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Ref.1 Ref.2 Ref.3 Ref.4

Subunit structure

Interacts with USH1C (via the first PDZ domain). Interacts with PDZD7. Interacts with MYO7A By similarity. Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane. Ref.2 Ref.3

Subcellular location

Cytoplasmcytosol. Cytoplasmcytoskeleton. Cell membrane; Peripheral membrane protein. Note: Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15. Ref.3 Ref.4

Tissue specificity

Detected in stereocilia from cochlear hair cells (at protein level). Highly expressed in the cochlea, testis, cerebellum and eye, and low levels in brain, thymus and spleen. Significant signals detected in the neurosensory epithelium of inner ear cochlea and saccule, especially in inner and outer hair cells. Ref.1 Ref.3 Ref.4

Developmental stage

Low-level expression detected in E17.5 embryos but not in embryos earlier than E15.5.

Involvement in disease

Defects in Ush1g are the cause of the Jackson shaker phenotypes (js). Jackson shaker mice carry recessive mutations predicted to inactivate Ush1g by frameshift resulting in a truncated protein lacking the C-terminal SAM domain. The js phenotype is characterized by deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia. Defects in the formation of protein complex including Ush1g may disrupt stereocilia bundle in js mice.

Disruption phenotype

Mice are deaf, due to defects in hair cell bundles in the cochlea. They develop circling behavior, probably due to balance problems. Ref.3

Sequence similarities

Contains 3 ANK repeats.

Contains 1 SAM (sterile alpha motif) domain.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Usher syndrome type-1G protein homolog
PRO_0000067078

Regions

Repeat31 – 6030ANK 1
Repeat64 – 9330ANK 2
Repeat97 – 12630ANK 3
Domain385 – 44763SAM

Experimental info

Sequence conflict1761L → F in BAC57426. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q80T11 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 8C5C4467802F35DB

FASTA46151,490
        10         20         30         40         50         60 
MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL IVSRGGDPDK 

        70         80         90        100        110        120 
CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT PLDMAAMKGH MECVRYLDSI 

       130        140        150        160        170        180 
AAKQSSLNPK LVGKLKDKAF REAERRIREC AKMQRKHHER MERRYRRELA ERSDTLSFSS 

       190        200        210        220        230        240 
LTSSTLSRRL QHMTLGSQLP YSQATLHGTA KGKAKIQKKL ERRKQGGEGT FKVSEDGRKS 

       250        260        270        280        290        300 
VRSLSGLQLG SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD 

       310        320        330        340        350        360 
SGHDSLFTRP GLGTMVFRRN YVSSGLHGLG REDGGLDGAG TPRGRLHSSP SLDDDSLGSA 

       370        380        390        400        410        420 
NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH MEDFASLLRH EKIDLEALML 

       430        440        450        460 
CSDLDLRSIS VPLGPRKKIL GAVRRRRQAL ERPLALEDTE L 

« Hide

References

[1]"Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice."
Kikkawa Y., Shitara H., Wakana S., Kohara Y., Takada T., Okamoto M., Taya C., Kamiya K., Yoshikawa Y., Tokano H., Kitamura K., Shimizu K., Wakabayashi Y., Shiroishi T., Kominami R., Yonekawa H.
Hum. Mol. Genet. 12:453-461(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, POSSIBLE FUNCTION.
[2]"Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."
Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.
Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH USH1C, POSSIBLE FUNCTION.
[3]"Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia."
Caberlotto E., Michel V., Foucher I., Bahloul A., Goodyear R.J., Pepermans E., Michalski N., Perfettini I., Alegria-Prevot O., Chardenoux S., Do Cruzeiro M., Hardelin J.P., Richardson G.P., Avan P., Weil D., Petit C.
Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CDH23 AND PCDH15.
[4]"Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
Grati M., Kachar B.
Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB087502 mRNA. Translation: BAC57430.1.
AB087501 Genomic DNA. Translation: BAC57426.1.
CCDSCCDS25627.1.
RefSeqNP_789817.1. NM_176847.3.
XP_006532376.1. XM_006532313.1.
UniGeneMm.451539.

3D structure databases

ProteinModelPortalQ80T11.
SMRQ80T11. Positions 3-178, 388-461.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid200868. 1 interaction.
IntActQ80T11. 2 interactions.
MINTMINT-1896722.

PTM databases

PhosphoSiteQ80T11.

Proteomic databases

PRIDEQ80T11.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000103037; ENSMUSP00000099326; ENSMUSG00000045288.
GeneID16470.
KEGGmmu:16470.
UCSCuc007mhc.1. mouse.

Organism-specific databases

CTD124590.
MGIMGI:2450757. Ush1g.

Phylogenomic databases

eggNOGCOG0666.
GeneTreeENSGT00390000017548.
HOGENOMHOG000007847.
HOVERGENHBG051882.
InParanoidQ80T11.
OMAMKGHMEC.
OrthoDBEOG70GMFR.
PhylomeDBQ80T11.
TreeFamTF324946.

Gene expression databases

BgeeQ80T11.
CleanExMM_USH1G.
GenevestigatorQ80T11.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio289753.
PROQ80T11.
SOURCESearch...

Entry information

Entry nameUSH1G_MOUSE
AccessionPrimary (citable) accession number: Q80T11
Secondary accession number(s): Q80UG0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot