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Protein

Usher syndrome type-1G protein

Gene

USH1G

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.1 Publication

GO - Molecular functioni

  • spectrin binding Source: MGI

GO - Biological processi

  • equilibrioception Source: HGNC
  • inner ear morphogenesis Source: Ensembl
  • inner ear receptor stereocilium organization Source: Ensembl
  • photoreceptor cell maintenance Source: HGNC
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Hearing

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

HGNCiHGNC:16356. USH1G.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1G (USH1G)2 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 rs104894651dbSNPEnsembl.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 rs397517925dbSNPEnsembl.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.

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.
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.

PTM databases

iPTMnetiQ495M9.
PhosphoSitePlusiQ495M9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000182040.
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

GO - Molecular functioni

  • spectrin binding Source: MGI

Protein-protein interaction databases

BioGridi125876. 3 interactors.
DIPiDIP-41617N.
IntActiQ495M9. 1 interactor.
MINTiMINT-257481.
STRINGi9606.ENSP00000320076.

Structurei

Secondary structure

1461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi307 – 309Combined sources3
Turni310 – 312Combined sources3
Beta strandi313 – 315Combined sources3
Beta strandi375 – 377Combined sources3
Helixi391 – 397Combined sources7
Turni398 – 400Combined sources3
Helixi402 – 404Combined sources3
Helixi405 – 410Combined sources6
Helixi415 – 418Combined sources4
Helixi423 – 428Combined sources6
Helixi433 – 451Combined sources19
Beta strandi459 – 461Combined sources3

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...

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

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000017548.
HOGENOMiHOG000007847.
HOVERGENiHBG051882.
InParanoidiQ495M9.
OMAiKMQRKHH.
OrthoDBiEOG091G0DIP.
PhylomeDBiQ495M9.
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.
IPR033350. USH1G.
[Graphical view]
PANTHERiPTHR24161:SF24. PTHR24161:SF24. 1 hit.
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.

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

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 rs104894651dbSNPEnsembl.1
Natural variantiVAR_072369104M → V Probable disease-associated mutation found in patients with non-syndromic sensorineural hearing loss. 1 PublicationCorresponds to variant rs149529031dbSNPEnsembl.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 rs397517925dbSNPEnsembl.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.

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. 3 interactors.
DIPiDIP-41617N.
IntActiQ495M9. 1 interactor.
MINTiMINT-257481.
STRINGi9606.ENSP00000320076.

PTM databases

iPTMnetiQ495M9.
PhosphoSitePlusiQ495M9.

Polymorphism and mutation databases

BioMutaiUSH1G.
DMDMi81175048.

Proteomic databases

PaxDbiQ495M9.
PRIDEiQ495M9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi124590.
DisGeNETi124590.
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.
OMAiKMQRKHH.
OrthoDBiEOG091G0DIP.
PhylomeDBiQ495M9.
TreeFamiTF324946.

Enzyme and pathway databases

SignaLinkiQ495M9.

Miscellaneous databases

EvolutionaryTraceiQ495M9.
GeneWikiiUSH1G.
GenomeRNAii124590.
PROiQ495M9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182040.
CleanExiHS_USH1G.
ExpressionAtlasiQ495M9. baseline and differential.
GenevisibleiQ495M9. HS.

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.
IPR033350. USH1G.
[Graphical view]
PANTHERiPTHR24161:SF24. PTHR24161:SF24. 1 hit.
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]
ProtoNetiSearch...

Entry informationi

Entry nameiUSH1G_HUMAN
AccessioniPrimary (citable) accession number: Q495M9
Secondary accession number(s): Q8N251
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: September 13, 2005
Last modified: November 30, 2016
This is version 117 of the entry and version 1 of the sequence. [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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.