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Protein

Harmonin

Gene

USH1C

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

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 development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).By similarity2 Publications

<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

  • actin filament binding Source: InterPro
  • spectrin binding Source: MGI

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 processDifferentiation, Hearing

<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_and_taxonomy_section">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:
Harmonin
Alternative name(s):
Antigen NY-CO-38/NY-CO-37
Autoimmune enteropathy-related antigen AIE-75
Protein PDZ-73
Renal carcinoma antigen NY-REN-3
Usher syndrome type-1C protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:USH1C
Synonyms:AIE75
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000006611.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12597 USH1C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605242 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6N9

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<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 1C (USH1C)1 Publication
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:276904
Deafness, autosomal recessive, 18A (DFNB18A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:602092

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi103R → H: Strongly reduced affinity for USH1G. 1 Publication1

Keywords - Diseasei

Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
10083

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

More...
GeneReviewsi
USH1C

MalaCards human disease database

More...
MalaCardsi
USH1C
MIMi276900 phenotype
276904 phenotype
602092 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000006611

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

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37226

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
USH1C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160113087

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000657271 – 552HarmoninAdd BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei219PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q9Y6N9

PeptideAtlas

More...
PeptideAtlasi
Q9Y6N9

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y6N9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86750
86751 [Q9Y6N9-2]
86752 [Q9Y6N9-3]
86753 [Q9Y6N9-4]
86754 [Q9Y6N9-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y6N9

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

More...
PhosphoSitePlusi
Q9Y6N9

<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 small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000006611 Expressed in 138 organ(s), highest expression level in C1 segment of cervical spinal cord

CleanEx database of gene expression profiles

More...
CleanExi
HS_USH1C

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y6N9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y6N9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB013690
HPA027398
HPA027492
HPA028033

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (Probable). Part of a complex composed of USH1C, USH1G and MYO7A (PubMed:21709241). Interacts with F-actin (By similarity). Interacts with USH2A (PubMed:16301216). Interacts with SLC4A7 (PubMed:16301216). Interacts (via PDZ1 domain) with the C-terminus of USHBP1 (PubMed:11311560). Interacts (via N-terminus and PDZ 2 domain) with CDH23 (PubMed:19297620). Interacts with USH1G (PubMed:12588794, PubMed:20142502). Interacts with MYO7B (PubMed:24725409, PubMed:26812017). Interacts with CDHR2 and CDHR5; may mediate their interaction with MYO7B at the microvilli tip (PubMed:24725409, PubMed:26812017). Interacts (via PDZ 1 domain) with ANKS4B (PubMed:26812018, PubMed:26812017).By similarity2 Publications9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115392, 24 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9Y6N9

Database of interacting proteins

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DIPi
DIP-41473N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q9Y6N9

Protein interaction database and analysis system

More...
IntActi
Q9Y6N9, 28 interactors

Molecular INTeraction database

More...
MINTi
Q9Y6N9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000005226

<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

1552
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y6N9

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

More...
SMRi
Q9Y6N9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y6N9

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini87 – 169PDZ 1PROSITE-ProRule annotationAdd BLAST83
Domaini211 – 293PDZ 2PROSITE-ProRule annotationAdd BLAST83
Domaini452 – 537PDZ 3PROSITE-ProRule annotationAdd BLAST86

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 86N-terminal domain1 PublicationAdd BLAST86
Regioni194 – 552Mediates interaction with MYO7B2 PublicationsAdd BLAST359

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili310 – 377Sequence analysisAdd BLAST68

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PDZ 1 domain mediates interaction with ANKS4B, USHBP1, USH1G, SLC4A7.5 Publications
The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity.1 Publication

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3528 Eukaryota
ENOG4110362 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153656

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000126890

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057181

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6N9

KEGG Orthology (KO)

More...
KOi
K21877

Identification of Orthologs from Complete Genome Data

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OMAi
WEAKNHS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G073L

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y6N9

TreeFam database of animal gene trees

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TreeFami
TF325033

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030237 Harmonin
IPR001478 PDZ
IPR036034 PDZ_sf

The PANTHER Classification System

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PANTHERi
PTHR23116:SF36 PTHR23116:SF36, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00595 PDZ, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00228 PDZ, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50156 SSF50156, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50106 PDZ, 3 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6N9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI
60 70 80 90 100
NEPSRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL
110 120 130 140 150
SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV
160 170 180 190 200
INLIRTKKTV SIKVRHIGLI PVKSSPDEPL TWQYVDQFVS ESGGVRGSLG
210 220 230 240 250
SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH VKPGSLSAEV
260 270 280 290 300
GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD
310 320 330 340 350
RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA
360 370 380 390 400
EENERYRKEM EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR
410 420 430 440 450
KPKYDQGVEP ELEPADDLDG GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG
460 470 480 490 500
KDVRLLRIKK EGSLDLALEG GVDSPIGKVV VSAVYERGAA ERHGGIVKGD
510 520 530 540 550
EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELT

FF
Length:552
Mass (Da):62,211
Last modified:November 13, 2007 - v3
<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:i7E75CEE873C57F41
GO
Isoform 2 (identifier: Q9Y6N9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Show »
Length:521
Mass (Da):58,343
Checksum:iA303D7D48D91A847
GO
Isoform 3 (identifier: Q9Y6N9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-552: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:403
Mass (Da):45,812
Checksum:iAB350B62ED2C44FD
GO
Isoform 4 (identifier: Q9Y6N9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-292: Missing.

Note: No experimental confirmation available.
Show »
Length:533
Mass (Da):60,329
Checksum:iA9D7E121B11E2FBD
GO
Isoform 5 (identifier: Q9Y6N9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-427: YDQGVEPELEPADDLDGGTEEQGE → SFGWFYRYDG...RMVVYQTAFR
     550-552: TFF → ASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR

Note: No experimental confirmation available.
Show »
Length:899
Mass (Da):101,344
Checksum:i6DA49F7674BFA920
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
E9PNW1E9PNW1_HUMAN
Harmonin
USH1C
317Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC18049 differs from that shown. Reason: Frameshift at position 552.Curated

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 conflicti103R → S in BAA81739 (PubMed:10500064).Curated1
Sequence conflicti280S → N in AAC18049 (PubMed:9610721).Curated1
Sequence conflicti280S → N in AAC18048 (PubMed:9610721).Curated1
Sequence conflicti305A → T in BAA81739 (PubMed:10500064).Curated1

Natural variant

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_012320519E → D3 PublicationsCorresponds to variant dbSNP:rs1064074Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0037891 – 31Missing in isoform 2. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_007422274 – 292Missing in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_003790404 – 552Missing in isoform 3. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_043520404 – 427YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5. CuratedAdd BLAST24
Alternative sequenceiVSP_043521550 – 552TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5. Curated3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF039700 mRNA Translation: AAC18049.1 Frameshift.
AF039699 mRNA Translation: AAC18048.1
AB006955 mRNA Translation: BAA81739.1
AB018687 mRNA Translation: BAA81740.1
AK290788 mRNA Translation: BAF83477.1
AC124799 Genomic DNA No translation available.
BC016057 mRNA Translation: AAH16057.1
CH471064 Genomic DNA Translation: EAW68432.1
BK000147 mRNA Translation: DAA00086.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31438.1 [Q9Y6N9-1]
CCDS73265.1 [Q9Y6N9-4]
CCDS7825.1 [Q9Y6N9-5]

NCBI Reference Sequences

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RefSeqi
NP_001284693.1, NM_001297764.1 [Q9Y6N9-4]
NP_005700.2, NM_005709.3 [Q9Y6N9-1]
NP_710142.1, NM_153676.3 [Q9Y6N9-5]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.502072

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000005226; ENSP00000005226; ENSG00000006611 [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611 [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611 [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611 [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611 [Q9Y6N9-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10083

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10083

UCSC genome browser

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UCSCi
uc001mne.4 human [Q9Y6N9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the USH1C gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039700 mRNA Translation: AAC18049.1 Frameshift.
AF039699 mRNA Translation: AAC18048.1
AB006955 mRNA Translation: BAA81739.1
AB018687 mRNA Translation: BAA81740.1
AK290788 mRNA Translation: BAF83477.1
AC124799 Genomic DNA No translation available.
BC016057 mRNA Translation: AAH16057.1
CH471064 Genomic DNA Translation: EAW68432.1
BK000147 mRNA Translation: DAA00086.1
CCDSiCCDS31438.1 [Q9Y6N9-1]
CCDS73265.1 [Q9Y6N9-4]
CCDS7825.1 [Q9Y6N9-5]
RefSeqiNP_001284693.1, NM_001297764.1 [Q9Y6N9-4]
NP_005700.2, NM_005709.3 [Q9Y6N9-1]
NP_710142.1, NM_153676.3 [Q9Y6N9-5]
UniGeneiHs.502072

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X5NNMR-A201-301[»]
2KBQNMR-A1-80[»]
2KBRNMR-A1-80[»]
2KBSNMR-A208-299[»]
2LSRNMR-A1-80[»]
3K1RX-ray2.30A1-192[»]
5F3XX-ray2.65A/C1-194[»]
5MV8X-ray1.88B428-552[»]
5MV9X-ray2.60B428-552[»]
5XBFX-ray1.80B428-552[»]
ProteinModelPortaliQ9Y6N9
SMRiQ9Y6N9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115392, 24 interactors
CORUMiQ9Y6N9
DIPiDIP-41473N
ELMiQ9Y6N9
IntActiQ9Y6N9, 28 interactors
MINTiQ9Y6N9
STRINGi9606.ENSP00000005226

PTM databases

iPTMnetiQ9Y6N9
PhosphoSitePlusiQ9Y6N9

Polymorphism and mutation databases

BioMutaiUSH1C
DMDMi160113087

Proteomic databases

PaxDbiQ9Y6N9
PeptideAtlasiQ9Y6N9
PRIDEiQ9Y6N9
ProteomicsDBi86750
86751 [Q9Y6N9-2]
86752 [Q9Y6N9-3]
86753 [Q9Y6N9-4]
86754 [Q9Y6N9-5]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10083
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000005226; ENSP00000005226; ENSG00000006611 [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611 [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611 [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611 [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611 [Q9Y6N9-2]
GeneIDi10083
KEGGihsa:10083
UCSCiuc001mne.4 human [Q9Y6N9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10083
DisGeNETi10083
EuPathDBiHostDB:ENSG00000006611.15

GeneCards: human genes, protein and diseases

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GeneCardsi
USH1C
GeneReviewsiUSH1C

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0009478
HGNCiHGNC:12597 USH1C
HPAiCAB013690
HPA027398
HPA027492
HPA028033
MalaCardsiUSH1C
MIMi276900 phenotype
276904 phenotype
602092 phenotype
605242 gene
neXtProtiNX_Q9Y6N9
OpenTargetsiENSG00000006611
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1
PharmGKBiPA37226

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3528 Eukaryota
ENOG4110362 LUCA
GeneTreeiENSGT00940000153656
HOGENOMiHOG000126890
HOVERGENiHBG057181
InParanoidiQ9Y6N9
KOiK21877
OMAiWEAKNHS
OrthoDBiEOG091G073L
PhylomeDBiQ9Y6N9
TreeFamiTF325033

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
USH1C human
EvolutionaryTraceiQ9Y6N9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
USH1C

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

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GenomeRNAii
10083

Protein Ontology

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PROi
PR:Q9Y6N9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000006611 Expressed in 138 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_USH1C
ExpressionAtlasiQ9Y6N9 baseline and differential
GenevisibleiQ9Y6N9 HS

Family and domain databases

InterProiView protein in InterPro
IPR030237 Harmonin
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR23116:SF36 PTHR23116:SF36, 2 hits
PfamiView protein in Pfam
PF00595 PDZ, 3 hits
SMARTiView protein in SMART
SM00228 PDZ, 3 hits
SUPFAMiSSF50156 SSF50156, 3 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiUSH1C_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: Q9Y6N9
Secondary accession number(s): A8K423
, Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 13, 2007
Last modified: December 5, 2018
This is version 173 of the entry and version 3 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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