Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 146 (22 Apr 2020)
Sequence version 1 (13 Sep 2005)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Usher syndrome type-1G protein

Gene

USH1G

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q495M9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Usher syndrome type-1G protein
Alternative name(s):
Scaffold protein containing ankyrin repeats and SAM domain
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:USH1G
Synonyms:SANS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16356 USH1G

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607696 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q495M9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
124590

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
USH1G

MalaCards human disease database

More...
MalaCardsi
USH1G
MIMi276900 phenotype
606943 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000182040

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
231169 Usher syndrome type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38126

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q495M9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
USH1G

Domain mapping of disease mutations (DMDM)

More...
DMDMi
81175048

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000670771 – 461Usher syndrome type-1G proteinAdd BLAST461

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q495M9

PeptideAtlas

More...
PeptideAtlasi
Q495M9

PRoteomics IDEntifications database

More...
PRIDEi
Q495M9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61966

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q495M9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q495M9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000182040 Expressed in lower esophagus mucosa and 39 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q495M9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q495M9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000182040 Tissue enhanced (brain, epididymis, esophagus)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125876, 4 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q495M9

Database of interacting proteins

More...
DIPi
DIP-41617N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q495M9

Protein interaction database and analysis system

More...
IntActi
Q495M9, 21 interactors

Molecular INTeraction database

More...
MINTi
Q495M9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000480279

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q495M9 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q495M9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q495M9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati31 – 60ANK 1Add BLAST30
Repeati64 – 93ANK 2Add BLAST30
Repeati97 – 126ANK 3Add BLAST30
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini385 – 447SAMAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi444 – 447Poly-Arg4

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
COG0666 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000017548

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_028071_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q495M9

KEGG Orthology (KO)

More...
KOi
K21878

Identification of Orthologs from Complete Genome Data

More...
OMAi
FGVNIYA

Database of Orthologous Groups

More...
OrthoDBi
1344159at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q495M9

TreeFam database of animal gene trees

More...
TreeFami
TF324946

Family and domain databases

Conserved Domains Database

More...
CDDi
cd09586 SAM_USH1G, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR24161:SF24 PTHR24161:SF24, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 1 hit
PF00536 SAM_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 3 hits
SM00454 SAM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB0ABB9F5711A5095
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32725.1

NCBI Reference Sequences

More...
RefSeqi
NP_001269418.1, NM_001282489.2
NP_775748.2, NM_173477.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000614341; ENSP00000480279; ENSG00000182040

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
124590

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:124590

UCSC genome browser

More...
UCSCi
uc032fra.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7TNMR-A370-380[»]
3K1RX-ray2.30B388-461[»]
3PVLX-ray2.80B295-390[»]
SMRiQ495M9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi125876, 4 interactors
CORUMiQ495M9
DIPiDIP-41617N
ELMiQ495M9
IntActiQ495M9, 21 interactors
MINTiQ495M9
STRINGi9606.ENSP00000480279

PTM databases

iPTMnetiQ495M9
PhosphoSitePlusiQ495M9

Polymorphism and mutation databases

BioMutaiUSH1G
DMDMi81175048

Proteomic databases

PaxDbiQ495M9
PeptideAtlasiQ495M9
PRIDEiQ495M9
ProteomicsDBi61966

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
19482 45 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
124590
DisGeNETi124590

GeneCards: human genes, protein and diseases

More...
GeneCardsi
USH1G
GeneReviewsiUSH1G
HGNCiHGNC:16356 USH1G
HPAiENSG00000182040 Tissue enhanced (brain, epididymis, esophagus)
MalaCardsiUSH1G
MIMi276900 phenotype
606943 phenotype
607696 gene
neXtProtiNX_Q495M9
OpenTargetsiENSG00000182040
Orphaneti231169 Usher syndrome type 1
PharmGKBiPA38126

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiCLU_028071_0_0_1
InParanoidiQ495M9
KOiK21878
OMAiFGVNIYA
OrthoDBi1344159at2759
PhylomeDBiQ495M9
TreeFamiTF324946

Enzyme and pathway databases

SignaLinkiQ495M9

Miscellaneous databases

EvolutionaryTraceiQ495M9

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
USH1G

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
124590
PharosiQ495M9 Tbio

Protein Ontology

More...
PROi
PR:Q495M9
RNActiQ495M9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000182040 Expressed in lower esophagus mucosa and 39 other tissues
ExpressionAtlasiQ495M9 baseline and differential
GenevisibleiQ495M9 HS

Family and domain databases

CDDicd09586 SAM_USH1G, 1 hit
Gene3Di1.10.150.50, 1 hit
1.25.40.20, 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUSH1G_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q495M9
Secondary accession number(s): Q8N251
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: September 13, 2005
Last modified: April 22, 2020
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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