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Q80T11

- USH1G_MOUSE

UniProt

Q80T11 - USH1G_MOUSE

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Protein

Usher syndrome type-1G protein homolog

Gene

Ush1g

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. protein homodimerization activity Source: MGI
  2. spectrin binding Source: MGI

GO - Biological processi

  1. equilibrioception Source: Ensembl
  2. inner ear morphogenesis Source: MGI
  3. inner ear receptor cell differentiation Source: MGI
  4. photoreceptor cell maintenance Source: Ensembl
  5. sensory perception of light stimulus Source: Ensembl
  6. sensory perception of sound Source: MGI
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Usher syndrome type-1G protein homolog
Alternative name(s):
Jackson shaker protein
Scaffold protein containing ankyrin repeats and SAM domain
Gene namesi
Name:Ush1g
Synonyms:Sans
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 11

Organism-specific databases

MGIiMGI:2450757. Ush1g.

Subcellular locationi

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.

GO - Cellular componenti

  1. actin cytoskeleton Source: HGNC
  2. cytoplasm Source: MGI
  3. membrane Source: MGI
  4. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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 phenotypei

Mice are deaf, due to defects in hair cell bundles in the cochlea. They develop circling behavior, probably due to balance problems.1 Publication

Keywords - Diseasei

Deafness

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461Usher syndrome type-1G protein homologPRO_0000067078Add
BLAST

Proteomic databases

PRIDEiQ80T11.

PTM databases

PhosphoSiteiQ80T11.

Expressioni

Tissue specificityi

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.3 Publications

Developmental stagei

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

Gene expression databases

BgeeiQ80T11.
CleanExiMM_USH1G.
ExpressionAtlasiQ80T11. baseline and differential.
GenevestigatoriQ80T11.

Interactioni

Subunit structurei

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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Myo7aP974794EBI-7418889,EBI-1149557
Ush1cQ9ES64-33EBI-7418889,EBI-7418919

Protein-protein interaction databases

BioGridi200868. 1 interaction.
IntActiQ80T11. 2 interactions.
MINTiMINT-1896722.

Structurei

3D structure databases

ProteinModelPortaliQ80T11.
SMRiQ80T11. Positions 3-178, 388-461.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati31 – 6030ANK 1Add
BLAST
Repeati64 – 9330ANK 2Add
BLAST
Repeati97 – 12630ANK 3Add
BLAST
Domaini385 – 44763SAMAdd
BLAST

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00390000017548.
HOGENOMiHOG000007847.
HOVERGENiHBG051882.
InParanoidiQ80T11.
OMAiMKGHMEC.
OrthoDBiEOG70GMFR.
PhylomeDBiQ80T11.
TreeFamiTF324946.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q80T11-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL
60 70 80 90 100
IVSRGGDPDK CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT
110 120 130 140 150
PLDMAAMKGH MECVRYLDSI AAKQSSLNPK LVGKLKDKAF REAERRIREC
160 170 180 190 200
AKMQRKHHER MERRYRRELA ERSDTLSFSS LTSSTLSRRL QHMTLGSQLP
210 220 230 240 250
YSQATLHGTA KGKAKIQKKL ERRKQGGEGT FKVSEDGRKS VRSLSGLQLG
260 270 280 290 300
SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD
310 320 330 340 350
SGHDSLFTRP GLGTMVFRRN YVSSGLHGLG REDGGLDGAG TPRGRLHSSP
360 370 380 390 400
SLDDDSLGSA NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH
410 420 430 440 450
MEDFASLLRH EKIDLEALML CSDLDLRSIS VPLGPRKKIL GAVRRRRQAL
460
ERPLALEDTE L
Length:461
Mass (Da):51,490
Last modified:June 1, 2003 - v1
Checksum:i8C5C4467802F35DB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti176 – 1761L → F in BAC57426. (PubMed:12588793)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB087502 mRNA. Translation: BAC57430.1.
AB087501 Genomic DNA. Translation: BAC57426.1.
CCDSiCCDS25627.1.
RefSeqiNP_789817.1. NM_176847.3.
XP_006532376.1. XM_006532313.1.
UniGeneiMm.451539.

Genome annotation databases

EnsembliENSMUST00000103037; ENSMUSP00000099326; ENSMUSG00000045288.
GeneIDi16470.
KEGGimmu:16470.
UCSCiuc007mhc.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB087502 mRNA. Translation: BAC57430.1 .
AB087501 Genomic DNA. Translation: BAC57426.1 .
CCDSi CCDS25627.1.
RefSeqi NP_789817.1. NM_176847.3.
XP_006532376.1. XM_006532313.1.
UniGenei Mm.451539.

3D structure databases

ProteinModelPortali Q80T11.
SMRi Q80T11. Positions 3-178, 388-461.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 200868. 1 interaction.
IntActi Q80T11. 2 interactions.
MINTi MINT-1896722.

PTM databases

PhosphoSitei Q80T11.

Proteomic databases

PRIDEi Q80T11.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000103037 ; ENSMUSP00000099326 ; ENSMUSG00000045288 .
GeneIDi 16470.
KEGGi mmu:16470.
UCSCi uc007mhc.1. mouse.

Organism-specific databases

CTDi 124590.
MGIi MGI:2450757. Ush1g.

Phylogenomic databases

eggNOGi COG0666.
GeneTreei ENSGT00390000017548.
HOGENOMi HOG000007847.
HOVERGENi HBG051882.
InParanoidi Q80T11.
OMAi MKGHMEC.
OrthoDBi EOG70GMFR.
PhylomeDBi Q80T11.
TreeFami TF324946.

Miscellaneous databases

NextBioi 289753.
PROi Q80T11.
SOURCEi Search...

Gene expression databases

Bgeei Q80T11.
CleanExi MM_USH1G.
ExpressionAtlasi Q80T11. baseline and differential.
Genevestigatori Q80T11.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. 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.

Entry informationi

Entry nameiUSH1G_MOUSE
AccessioniPrimary (citable) accession number: Q80T11
Secondary accession number(s): Q80UG0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3