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

Gene

USH1G

Organism
Homo sapiens (Human)
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.1 Publication

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Biological processHearing

Enzyme and pathway databases

SignaLinkiQ495M9

Names & Taxonomyi

Protein namesi
Recommended name:
Usher syndrome type-1G protein
Alternative name(s):
Scaffold protein containing ankyrin repeats and SAM domain
Gene namesi
Name:USH1G
Synonyms:SANS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000182040.8
HGNCiHGNC:16356 USH1G
MIMi607696 gene
neXtProtiNX_Q495M9

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

Usher syndrome 1G (USH1G)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
See also OMIM:606943
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02373948L → P in USH1G. 1 PublicationCorresponds to variant dbSNP:rs104894651EnsemblClinVar.1
Natural variantiVAR_060468458D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 2 PublicationsCorresponds to variant dbSNP:rs397517925EnsemblClinVar.1
The first cases with non-syndromic sensorineural hearing loss based on mutations in USH1G. The hearing loss has an onset during early childhood, is progressive, and has a downsloping audiogram configuration. Ophthalmic and vestibular abnormalities are absent.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi307F → E: Reduced affinity for MYO7A. 1 Publication1
Mutagenesisi317F → E: Reduced affinity for MYO7A. 1 Publication1
Mutagenesisi374W → Q: Strongly reduced affinity for MYO7A. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi124590
GeneReviewsiUSH1G
MalaCardsiUSH1G
MIMi276900 phenotype
606943 phenotype
OpenTargetsiENSG00000182040
Orphaneti231169 Usher syndrome type 1
PharmGKBiPA38126

Polymorphism and mutation databases

BioMutaiUSH1G
DMDMi81175048

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000670771 – 461Usher syndrome type-1G proteinAdd BLAST461

Proteomic databases

PaxDbiQ495M9
PRIDEiQ495M9
ProteomicsDBi61966

PTM databases

iPTMnetiQ495M9
PhosphoSitePlusiQ495M9

Expressioni

Tissue specificityi

Expressed in vestibule of the inner ear, eye and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000182040 Expressed in 40 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_USH1G
ExpressionAtlasiQ495M9 baseline and differential
GenevisibleiQ495M9 HS

Organism-specific databases

HPAiHPA024360

Interactioni

Subunit structurei

Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane (By similarity). Interacts with USH1C (via the first PDZ domain) and with USH1G. Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A.By similarity5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125876, 4 interactors
CORUMiQ495M9
DIPiDIP-41617N
ELMiQ495M9
IntActiQ495M9, 19 interactors
MINTiQ495M9
STRINGi9606.ENSP00000320076

Structurei

Secondary structure

1461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ495M9
SMRiQ495M9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ495M9

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi444 – 447Poly-Arg4

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiHOG000007847
HOVERGENiHBG051882
InParanoidiQ495M9
KOiK21878
OMAiRGKTKIQ
OrthoDBiEOG091G0DIP
PhylomeDBiQ495M9
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q495M9-1 [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
AKLQRRHHER MERRYRRELA ERSDTLSFSS LTSSTLSRRL QHLALGSHLP
210 220 230 240 250
YSQATLHGTA RGKTKMQKKL ERRKQGGEGT FKVSEDGRKS ARSLSGLQLG
260 270 280 290 300
SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD
310 320 330 340 350
SGHDSLFTRP GLGTMVFRRN YLSSGLHGLG REDGGLDGVG APRGRLQSSP
360 370 380 390 400
SLDDDSLGSA NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH
410 420 430 440 450
MEDFAALLRQ EKIDLEALML CSDLDLRSIS VPLGPRKKIL GAVRRRRQAM
460
ERPPALEDTE L
Length:461
Mass (Da):51,489
Last modified:September 13, 2005 - v1
Checksum:iB0ABB9F5711A5095
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSN5J3KSN5_HUMAN
Usher syndrome type-1G protein
USH1G
115Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti300D → N in BAC03619 (PubMed:14702039).Curated1
Sequence conflicti402E → G in BAC03619 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02373948L → P in USH1G. 1 PublicationCorresponds to variant dbSNP:rs104894651EnsemblClinVar.1
Natural variantiVAR_072369104M → V Probable disease-associated mutation found in patients with non-syndromic sensorineural hearing loss. 1 PublicationCorresponds to variant dbSNP:rs149529031EnsemblClinVar.1
Natural variantiVAR_060468458D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 2 PublicationsCorresponds to variant dbSNP:rs397517925EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091243 mRNA Translation: BAC03619.1
BC101096 mRNA Translation: AAI01097.1
BC101097 mRNA Translation: AAI01098.1
BC101098 mRNA Translation: AAI01099.1
BC101099 mRNA Translation: AAI01100.1
CCDSiCCDS32725.1
RefSeqiNP_001269418.1, NM_001282489.2
NP_775748.2, NM_173477.4
UniGeneiHs.376688

Genome annotation databases

EnsembliENST00000614341; ENSP00000480279; ENSG00000182040
GeneIDi124590
KEGGihsa:124590
UCSCiuc032fra.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091243 mRNA Translation: BAC03619.1
BC101096 mRNA Translation: AAI01097.1
BC101097 mRNA Translation: AAI01098.1
BC101098 mRNA Translation: AAI01099.1
BC101099 mRNA Translation: AAI01100.1
CCDSiCCDS32725.1
RefSeqiNP_001269418.1, NM_001282489.2
NP_775748.2, NM_173477.4
UniGeneiHs.376688

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7TNMR-A370-380[»]
3K1RX-ray2.30B388-461[»]
3PVLX-ray2.80B295-390[»]
ProteinModelPortaliQ495M9
SMRiQ495M9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125876, 4 interactors
CORUMiQ495M9
DIPiDIP-41617N
ELMiQ495M9
IntActiQ495M9, 19 interactors
MINTiQ495M9
STRINGi9606.ENSP00000320076

PTM databases

iPTMnetiQ495M9
PhosphoSitePlusiQ495M9

Polymorphism and mutation databases

BioMutaiUSH1G
DMDMi81175048

Proteomic databases

PaxDbiQ495M9
PRIDEiQ495M9
ProteomicsDBi61966

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614341; ENSP00000480279; ENSG00000182040
GeneIDi124590
KEGGihsa:124590
UCSCiuc032fra.2 human

Organism-specific databases

CTDi124590
DisGeNETi124590
EuPathDBiHostDB:ENSG00000182040.8
GeneCardsiUSH1G
GeneReviewsiUSH1G
HGNCiHGNC:16356 USH1G
HPAiHPA024360
MalaCardsiUSH1G
MIMi276900 phenotype
606943 phenotype
607696 gene
neXtProtiNX_Q495M9
OpenTargetsiENSG00000182040
Orphaneti231169 Usher syndrome type 1
PharmGKBiPA38126
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiHOG000007847
HOVERGENiHBG051882
InParanoidiQ495M9
KOiK21878
OMAiRGKTKIQ
OrthoDBiEOG091G0DIP
PhylomeDBiQ495M9
TreeFamiTF324946

Enzyme and pathway databases

SignaLinkiQ495M9

Miscellaneous databases

ChiTaRSiUSH1G human
EvolutionaryTraceiQ495M9
GeneWikiiUSH1G
GenomeRNAii124590
PROiPR:Q495M9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182040 Expressed in 40 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_USH1G
ExpressionAtlasiQ495M9 baseline and differential
GenevisibleiQ495M9 HS

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_HUMAN
AccessioniPrimary (citable) accession number: Q495M9
Secondary accession number(s): Q8N251
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: September 13, 2005
Last modified: November 7, 2018
This is version 133 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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