Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Usher syndrome type-1G protein homolog

Gene

Ush1g

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

  • identical protein binding Source: MGI
  • protein homodimerization activity Source: MGI
  • spectrin binding Source: MGI

GO - Biological processi

Keywordsi

Biological processHearing

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:2450757 Ush1g

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.3 Publications

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)DescriptionActionsGraphical viewLength
ChainiPRO_00000670781 – 461Usher syndrome type-1G protein homologAdd BLAST461

Proteomic databases

PaxDbiQ80T11
PRIDEiQ80T11

PTM databases

iPTMnetiQ80T11
PhosphoSitePlusiQ80T11

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

BgeeiENSMUSG00000045288 Expressed in 16 organ(s), highest expression level in female gonad
CleanExiMM_USH1G
ExpressionAtlasiQ80T11 baseline and differential

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi200868, 1 interactor
IntActiQ80T11, 2 interactors
MINTiQ80T11
STRINGi10090.ENSMUSP00000099326

Structurei

3D structure databases

ProteinModelPortaliQ80T11
SMRiQ80T11
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati31 – 60ANK 1Add BLAST30
Repeati64 – 93ANK 2Add BLAST30
Repeati97 – 126ANK 3Add BLAST30
Domaini385 – 447SAMAdd BLAST63

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiHOG000007847
HOVERGENiHBG051882
InParanoidiQ80T11
KOiK21878
OMAiRGKTKIQ
OrthoDBiEOG091G0DIP
PhylomeDBiQ80T11
TreeFamiTF324946

Family and domain databases

CDDicd00204 ANK, 1 hit
cd09586 SAM_USH1G, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR033350 USH1G
IPR037602 USH1G_SAM
PANTHERiPTHR24161:SF24 PTHR24161:SF24, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti176L → F in BAC57426 (PubMed:12588793).Curated1

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
UniGeneiMm.451539

Genome annotation databases

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

Similar proteinsi

Cross-referencesi

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
UniGeneiMm.451539

3D structure databases

ProteinModelPortaliQ80T11
SMRiQ80T11
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi200868, 1 interactor
IntActiQ80T11, 2 interactors
MINTiQ80T11
STRINGi10090.ENSMUSP00000099326

PTM databases

iPTMnetiQ80T11
PhosphoSitePlusiQ80T11

Proteomic databases

PaxDbiQ80T11
PRIDEiQ80T11

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi124590
MGIiMGI:2450757 Ush1g

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiHOG000007847
HOVERGENiHBG051882
InParanoidiQ80T11
KOiK21878
OMAiRGKTKIQ
OrthoDBiEOG091G0DIP
PhylomeDBiQ80T11
TreeFamiTF324946

Miscellaneous databases

PROiPR:Q80T11
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000045288 Expressed in 16 organ(s), highest expression level in female gonad
CleanExiMM_USH1G
ExpressionAtlasiQ80T11 baseline and differential

Family and domain databases

CDDicd00204 ANK, 1 hit
cd09586 SAM_USH1G, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR033350 USH1G
IPR037602 USH1G_SAM
PANTHERiPTHR24161:SF24 PTHR24161:SF24, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiUSH1G_MOUSE
AccessioniPrimary (citable) accession number: Q80T11
Secondary accession number(s): Q80UG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 123 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again