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Entry version 219 (18 Sep 2019)
Sequence version 2 (06 Mar 2013)
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Protein

Unconventional myosin-VIIa

Gene

MYO7A

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

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor 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.By similarity4 Publications

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).Curated
Originally predicted to contain a coiled coil domain but proposed to contain a stable SAH domain instead.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

ATP hydrolysis is inhibited by Mg2+, already at a concentration of 0.4 mM.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi158 – 165ATPCurated8

<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

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Myosin
Biological processHearing
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

<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:
Unconventional myosin-VIIa
<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:MYO7A
Synonyms:USH1B
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7606 MYO7A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
276903 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13402

<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

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 1B (USH1B)15 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_00931625G → R in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs782252317EnsemblClinVar.1
Natural variantiVAR_02403926A → E in USH1B. 1 PublicationCorresponds to variant dbSNP:rs369125667EnsemblClinVar.1
Natural variantiVAR_02404067V → M in USH1B. 1 Publication1
Natural variantiVAR_02404190R → P in USH1B. 1 Publication1
Natural variantiVAR_027301133H → D in USH1B; the deleterious effect remains to be proven. 1 PublicationCorresponds to variant dbSNP:rs111033403EnsemblClinVar.1
Natural variantiVAR_024042134I → N in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033181EnsemblClinVar.1
Natural variantiVAR_027302163G → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1472566324EnsemblClinVar.1
Natural variantiVAR_027303164K → R in USH1B. 1 Publication1
Natural variantiVAR_024043165T → M in USH1B. 3 PublicationsCorresponds to variant dbSNP:rs111033174EnsemblClinVar.1
Natural variantiVAR_027304198A → T in USH1B; is predicted to alter the normal splicing of exon 6. 1 Publication1
Natural variantiVAR_027305204T → A in USH1B. 1 Publication1
Natural variantiVAR_009318212R → C in USH1B; frequent mutation. 1 PublicationCorresponds to variant dbSNP:rs121965080EnsemblClinVar.1
Natural variantiVAR_009319212R → H in USH1B; frequent mutation. 1 PublicationCorresponds to variant dbSNP:rs28934610EnsemblClinVar.1
Natural variantiVAR_009320214G → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033283EnsemblClinVar.1
Natural variantiVAR_009321218 – 219Missing in USH1B. 2
Natural variantiVAR_024044241R → C in USH1B. 1 PublicationCorresponds to variant dbSNP:rs782166819EnsemblClinVar.1
Natural variantiVAR_009322241R → S in USH1B. 1
Natural variantiVAR_024045269Missing in USH1B. 1 Publication1
Natural variantiVAR_009324302R → H in USH1B; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41298135EnsemblClinVar.1
Natural variantiVAR_009325397A → D in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs1555067667EnsemblClinVar.1
Natural variantiVAR_009326450E → Q in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1269622956EnsemblClinVar.1
Natural variantiVAR_024046457A → V in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033286EnsemblClinVar.1
Natural variantiVAR_009327468H → HQ in USH1B. 1 Publication1
Natural variantiVAR_009328503P → L in USH1B. 1 Publication1
Natural variantiVAR_024047519G → D in USH1B; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033206EnsemblClinVar.1
Natural variantiVAR_009331651L → P in USH1B; atypical. 1 PublicationCorresponds to variant dbSNP:rs876657416EnsemblClinVar.1
Natural variantiVAR_024048756R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs782174733EnsemblClinVar.1
Natural variantiVAR_009332826A → T in USH1B. 1 PublicationCorresponds to variant dbSNP:rs368341987EnsemblClinVar.1
Natural variantiVAR_071646946M → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1296612982Ensembl.1
Natural variantiVAR_009334955G → S in USH1B. 1 PublicationCorresponds to variant dbSNP:rs781988557EnsemblClinVar.1
Natural variantiVAR_024049968E → D in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs111033233EnsemblClinVar.1
Natural variantiVAR_0093351087L → P in USH1B. 1 PublicationCorresponds to variant dbSNP:rs375050157EnsemblClinVar.1
Natural variantiVAR_0093361170E → K in USH1B. 3 PublicationsCorresponds to variant dbSNP:rs111033214EnsemblClinVar.1
Natural variantiVAR_0093371240R → Q in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs111033178EnsemblClinVar.1
Natural variantiVAR_0716471248E → K in USH1B. 1 Publication1
Natural variantiVAR_0093381288A → P in USH1B. 1 PublicationCorresponds to variant dbSNP:rs749747871Ensembl.1
Natural variantiVAR_0273091327E → K in USH1B. 1 PublicationCorresponds to variant dbSNP:rs373169422EnsemblClinVar.1
Natural variantiVAR_0093391343R → S in USH1B. Corresponds to variant dbSNP:rs763469001EnsemblClinVar.1
Natural variantiVAR_0240501346Missing in USH1B. 1 Publication1
Natural variantiVAR_0273101347 – 1351Missing in USH1B. 1 Publication5
Natural variantiVAR_0093401602R → Q in USH1B; atypical. 2 PublicationsCorresponds to variant dbSNP:rs139889944EnsemblClinVar.1
Natural variantiVAR_0093411628A → S in USH1B. 1
Natural variantiVAR_0240511743R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033287EnsemblClinVar.1
Natural variantiVAR_0740741812E → K in USH1B. 1 PublicationCorresponds to variant dbSNP:rs377267777Ensembl.1
Natural variantiVAR_0240521858L → P in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs368657015EnsemblClinVar.1
Natural variantiVAR_0273141873R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs397516321EnsemblClinVar.1
Natural variantiVAR_0240531883R → Q in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033215EnsemblClinVar.1
Natural variantiVAR_0240541887P → L in USH1B. 1 PublicationCorresponds to variant dbSNP:rs199606180EnsemblClinVar.1
Natural variantiVAR_0273151962Missing in USH1B. 1 Publication1
Natural variantiVAR_0093472137G → E in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1191025888Ensembl.1
Natural variantiVAR_0093482163G → S in USH1B. Corresponds to variant dbSNP:rs747656448EnsemblClinVar.1
Natural variantiVAR_0240552187G → D in USH1B. 1 PublicationCorresponds to variant dbSNP:rs397516332EnsemblClinVar.1
Deafness, autosomal recessive, 2 (DFNB2)3 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009323244R → P in DFNB2. 1 PublicationCorresponds to variant dbSNP:rs121965081EnsemblClinVar.1
Natural variantiVAR_009330599M → I in DFNB2. 1 PublicationCorresponds to variant dbSNP:rs121965082EnsemblClinVar.1
Natural variantiVAR_079504652C → R in DFNB2. 1 Publication1
Deafness, autosomal dominant, 11 (DFNA11)4 Publications
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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027306458N → I in DFNA11. 1 PublicationCorresponds to variant dbSNP:rs121965084EnsemblClinVar.1
Natural variantiVAR_027307722G → R in DFNA11. 1 Publication1
Natural variantiVAR_027308853R → C in DFNA11; disturb calmodulin/MYO7A binding. 1 Publication1
Natural variantiVAR_009333886 – 888Missing in DFNA11. 1 Publication3

Keywords - Diseasei

Deafness, Disease mutation, Leber congenital amaurosis, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
4647

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

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GeneReviewsi
MYO7A

MalaCards human disease database

More...
MalaCardsi
MYO7A
MIMi276900 phenotype
600060 phenotype
601317 phenotype

Open Targets

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OpenTargetsi
ENSG00000137474

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

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1
231178 Usher syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31411

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYO7A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
460018219

<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_00001234661 – 2215Unconventional myosin-VIIaAdd BLAST2215

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 residuei1569PhosphoserineBy similarity1
Modified residuei1571PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13402

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13402

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

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PaxDbi
Q13402

PeptideAtlas

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PeptideAtlasi
Q13402

PRoteomics IDEntifications database

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PRIDEi
Q13402

ProteomicsDB human proteome resource

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ProteomicsDBi
28745
59375 [Q13402-1]
59376 [Q13402-2]
59377 [Q13402-3]
59378 [Q13402-4]
59379 [Q13402-5]
59380 [Q13402-6]
59381 [Q13402-7]
7477

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13402

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

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PhosphoSitePlusi
Q13402

<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 the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.3 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium, cochlear and vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment epithelium and photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells increases. Present in pigment epithelium and photoreceptor cells in adult.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000137474 Expressed in 149 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13402 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13402 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB034059
HPA028918

<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

Might homodimerize in a two headed molecule through the formation of a coiled-coil rod (By similarity).

Identified in a complex with USH1C and USH1G (PubMed:21709241).

Interacts with MYRIP (PubMed:11964381).

Interacts with RPE65 (PubMed:21493626).

Interacts with CIB2 (PubMed:23023331). May interact with CALM (PubMed:15300860).

Interacts with WHRN (By similarity).

Interacts with PLEKHB1 (via PH domain) (By similarity).

Interacts with PCDH15 (By similarity).

Interacts with TWF2 (By similarity).

Interacts with USH1G (By similarity).

Interacts with MYH9 (By similarity).

Interacts (via MyTH4-FERM domains) with cytoplasmic regions of ADGRV1 and USH2A.

Interacts with PDZD7 (via MyTH4-FERM domains) (By similarity).

By similarity5 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110731, 14 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13402

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q13402

Protein interaction database and analysis system

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IntActi
Q13402, 5 interactors

Molecular INTeraction database

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MINTi
Q13402

STRING: functional protein association networks

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STRINGi
9606.ENSP00000386331

<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

12215
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

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SMRi
Q13402

Database of comparative protein structure models

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ModBasei
Search...

<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>Domaini65 – 741Myosin motorPROSITE-ProRule annotationAdd BLAST677
Domaini745 – 765IQ 1PROSITE-ProRule annotationAdd BLAST21
Domaini768 – 788IQ 2PROSITE-ProRule annotationAdd BLAST21
Domaini791 – 811IQ 3PROSITE-ProRule annotationAdd BLAST21
Domaini814 – 834IQ 4PROSITE-ProRule annotationAdd BLAST21
Domaini837 – 857IQ 5PROSITE-ProRule annotationAdd BLAST21
Domaini1017 – 1253MyTH4 1PROSITE-ProRule annotationAdd BLAST237
Domaini1258 – 1602FERM 1PROSITE-ProRule annotationAdd BLAST345
Domaini1603 – 1672SH3PROSITE-ProRule annotationAdd BLAST70
Domaini1747 – 1896MyTH4 2PROSITE-ProRule annotationAdd BLAST150
Domaini1902 – 2205FERM 2PROSITE-ProRule annotationAdd BLAST304

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>Regioni632 – 639Actin-bindingCurated8
Regioni858 – 935SAH1 PublicationAdd BLAST78

<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 SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4229 Eukaryota
COG5022 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155350

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007836

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13402

KEGG Orthology (KO)

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KOi
K10359

Identification of Orthologs from Complete Genome Data

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OMAi
FNIEEAH

Database of Orthologous Groups

More...
OrthoDBi
527681at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13402

TreeFam database of animal gene trees

More...
TreeFami
TF335306

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14473 FERM_B-lobe, 2 hits
cd13198 FERM_C1_MyoVII, 1 hit
cd13199 FERM_C2_MyoVII, 1 hit
cd01381 MYSc_Myo7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.80.10, 2 hits
1.25.40.530, 2 hits
2.30.29.30, 3 hits
2.30.30.360, 1 hit
3.40.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR008989 Myosin_S1_N
IPR041793 MyoVII_FERM_C1
IPR041794 MyoVII_FERM_C2
IPR036106 MYSc_Myo7
IPR000857 MyTH4_dom
IPR038185 MyTH4_dom_sf
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR029071 Ubiquitin-like_domsf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00373 FERM_M, 1 hit
PF00612 IQ, 2 hits
PF00063 Myosin_head, 1 hit
PF00784 MyTH4, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00193 MYOSINHEAVY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00295 B41, 2 hits
SM00015 IQ, 4 hits
SM00242 MYSc, 1 hit
SM00139 MyTH4, 2 hits
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47031 SSF47031, 2 hits
SSF50044 SSF50044, 1 hit
SSF52540 SSF52540, 2 hits
SSF54236 SSF54236, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50057 FERM_3, 2 hits
PS50096 IQ, 3 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51016 MYTH4, 2 hits
PS50002 SH3, 1 hit

<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>. 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>Sequences (8+)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 8 <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
Note: Additional isoforms seem to exist.

This entry has 8 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13402-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP
60 70 80 90 100
QNATHIKPMH PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS
110 120 130 140 150
ILVAVNPYQL LSIYSPEHIR QYTNKKIGEM PPHIFAIADN CYFNMKRNSR
160 170 180 190 200
DQCCIISGES GAGKTESTKL ILQFLAAISG QHSWIEQQVL EATPILEAFG
210 220 230 240 250
NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS RVCRQALDER
260 270 280 290 300
NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
310 320 330 340 350
IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP
360 370 380 390 400
SLATAASLLE VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK
410 420 430 440 450
GIYGRLFVWI VDKINAAIYK PPSQDVKNSR RSIGLLDIFG FENFAVNSFE
460 470 480 490 500
QLCINFANEH LQQFFVRHVF KLEQEEYDLE SIDWLHIEFT DNQDALDMIA
510 520 530 540 550
NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP PKNNHETQFG
560 570 580 590 600
INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
610 620 630 640 650
AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH
660 670 680 690 700
LCVRQLRYSG MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD
710 720 730 740 750
LRGTCQRMAE AVLGTHDDWQ IGKTKIFLKD HHDMLLEVER DKAITDRVIL
760 770 780 790 800
LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG HNCRKNYGLM RLGFLRLQAL
810 820 830 840 850
HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV LTVQAYARGM
860 870 880 890 900
IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
910 920 930 940 950
LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL
960 970 980 990 1000
GTSGGLPGQE GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK
1010 1020 1030 1040 1050
FAKFAATYFQ GTTTHSYTRR PLKQPLLYHD DEGDQLAALA VWITILRFMG
1060 1070 1080 1090 1100
DLPEPKYHTA MSDGSEKIPV MTKIYETLGK KTYKRELQAL QGEGEAQLPE
1110 1120 1130 1140 1150
GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN SMLEDRPTSN
1160 1170 1180 1190 1200
LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
1210 1220 1230 1240 1250
CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ
1260 1270 1280 1290 1300
ATKSKKPIML PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS
1310 1320 1330 1340 1350
LYIALFDKVS SLGSGSDHVM DAISQCEQYA KEQGAQERNA PWRLFFRKEV
1360 1370 1380 1390 1400
FTPWHSPSED NVATNLIYQQ VVRGVKFGEY RCEKEDDLAE LASQQYFVDY
1410 1420 1430 1440 1450
GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK KGIYAQRRTD
1460 1470 1480 1490 1500
AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
1510 1520 1530 1540 1550
VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP
1560 1570 1580 1590 1600
AGPCSPCWSC RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG
1610 1620 1630 1640 1650
LRKRSKYVVA LQDNPNPAGE ESGFLSFAKG DLIILDHDTG EQVMNSGWAN
1660 1670 1680 1690 1700
GINERTKQRG DFPTDSVYVM PTVTMPPREI VALVTMTPDQ RQDVVRLLQL
1710 1720 1730 1740 1750
RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG KDRLWSHTRE
1760 1770 1780 1790 1800
PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
1810 1820 1830 1840 1850
EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL
1860 1870 1880 1890 1900
LPHVQRFLQS RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT
1910 1920 1930 1940 1950
QIFHKVYFPD DTDEAFEVES STKAKDFCQN IATRLLLKSS EGFSLFVKIA
1960 1970 1980 1990 2000
DKVLSVPEND FFFDFVRHLT DWIKKARPIK DGIVPSLTYQ VFFMKKLWTT
2010 2020 2030 2040 2050
TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL IYRVKFEEDK
2060 2070 2080 2090 2100
SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
2110 2120 2130 2140 2150
LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT
2160 2170 2180 2190 2200
THPFTKISNW SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ
2210
MLTAMSKQRG SRSGK
Length:2,215
Mass (Da):254,390
Last modified:March 6, 2013 - v2
<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:i9F921DB43FD9BE1E
GO
Isoform 2 (identifier: Q13402-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1524-1561: Missing.
     2117-2118: Missing.

Show »
Length:2,175
Mass (Da):250,245
Checksum:iFEEADA62DAE9229D
GO
Isoform 3 (identifier: Q13402-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.

Show »
Length:1,200
Mass (Da):138,349
Checksum:i6F3F743A0E78295D
GO
Isoform 4 (identifier: Q13402-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1095-1095: E → EVLQ
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.

Show »
Length:1,203
Mass (Da):138,689
Checksum:i6E42F0F5BAE382E6
GO
Isoform 5 (identifier: Q13402-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-360: Missing.
     519-564: Missing.

Show »
Length:2,092
Mass (Da):240,641
Checksum:iF846661CE342453B
GO
Isoform 6 (identifier: Q13402-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1096-1125: Missing.

Show »
Length:2,185
Mass (Da):250,966
Checksum:iD5D90A29BACA8CAD
GO
Isoform 7 (identifier: Q13402-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1433-1470: Missing.

Show »
Length:2,177
Mass (Da):249,961
Checksum:i08B2E4E410321CAB
GO
Isoform 8 (identifier: Q13402-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.
     1524-1561: Missing.

Show »
Length:2,166
Mass (Da):249,165
Checksum:i7492760882361743
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WT71A0A087WT71_HUMAN
Unconventional myosin-VIIa
MYO7A
1,198Annotation score:

Annotation score:2 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>
B9A012B9A012_HUMAN
Unconventional myosin-VIIa
MYO7A
533Annotation score:

Annotation score:2 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>
H7C4D8H7C4D8_HUMAN
Unconventional myosin-VIIa
MYO7A
1,357Annotation 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 conflicti172L → P in AAA20909 (PubMed:8022818).Curated1
Sequence conflicti470F → L in AAC50927 (PubMed:8884267).Curated1
Sequence conflicti470F → L in AAC50722 (PubMed:8884267).Curated1
Sequence conflicti576D → N in AAC51150 (PubMed:9070921).Curated1
Sequence conflicti794F → S in AAC50927 (PubMed:8884267).Curated1
Sequence conflicti794F → S in AAC50722 (PubMed:8884267).Curated1
Sequence conflicti794F → S in AAC50218 (PubMed:7568224).Curated1
Sequence conflicti873R → Q in AAC50927 (PubMed:8884267).Curated1
Sequence conflicti873R → Q in AAC50722 (PubMed:8884267).Curated1
Sequence conflicti873R → Q in AAC50218 (PubMed:7568224).Curated1
Sequence conflicti1073 – 1075KIY → RNS in AAC50218 (PubMed:7568224).Curated3
Sequence conflicti1237N → S in AAC50927 (PubMed:8884267).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00931516L → S1 PublicationCorresponds to variant dbSNP:rs1052030EnsemblClinVar.1
Natural variantiVAR_00931625G → R in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs782252317EnsemblClinVar.1
Natural variantiVAR_02403926A → E in USH1B. 1 PublicationCorresponds to variant dbSNP:rs369125667EnsemblClinVar.1
Natural variantiVAR_02404067V → M in USH1B. 1 Publication1
Natural variantiVAR_02404190R → P in USH1B. 1 Publication1
Natural variantiVAR_027301133H → D in USH1B; the deleterious effect remains to be proven. 1 PublicationCorresponds to variant dbSNP:rs111033403EnsemblClinVar.1
Natural variantiVAR_024042134I → N in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033181EnsemblClinVar.1
Natural variantiVAR_077020158G → R Found in patients with retinitis pigmentosa; unknown pathological significance. 1 Publication1
Natural variantiVAR_027302163G → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1472566324EnsemblClinVar.1
Natural variantiVAR_027303164K → R in USH1B. 1 Publication1
Natural variantiVAR_024043165T → M in USH1B. 3 PublicationsCorresponds to variant dbSNP:rs111033174EnsemblClinVar.1
Natural variantiVAR_066861193T → I Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1188616455EnsemblClinVar.1
Natural variantiVAR_027304198A → T in USH1B; is predicted to alter the normal splicing of exon 6. 1 Publication1
Natural variantiVAR_027305204T → A in USH1B. 1 Publication1
Natural variantiVAR_009317205I → V. Corresponds to variant dbSNP:rs781946292Ensembl.1
Natural variantiVAR_009318212R → C in USH1B; frequent mutation. 1 PublicationCorresponds to variant dbSNP:rs121965080EnsemblClinVar.1
Natural variantiVAR_009319212R → H in USH1B; frequent mutation. 1 PublicationCorresponds to variant dbSNP:rs28934610EnsemblClinVar.1
Natural variantiVAR_009320214G → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033283EnsemblClinVar.1
Natural variantiVAR_009321218 – 219Missing in USH1B. 2
Natural variantiVAR_024044241R → C in USH1B. 1 PublicationCorresponds to variant dbSNP:rs782166819EnsemblClinVar.1
Natural variantiVAR_009322241R → S in USH1B. 1
Natural variantiVAR_009323244R → P in DFNB2. 1 PublicationCorresponds to variant dbSNP:rs121965081EnsemblClinVar.1
Natural variantiVAR_024045269Missing in USH1B. 1 Publication1
Natural variantiVAR_009324302R → H in USH1B; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41298135EnsemblClinVar.1
Natural variantiVAR_009325397A → D in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs1555067667EnsemblClinVar.1
Natural variantiVAR_009326450E → Q in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1269622956EnsemblClinVar.1
Natural variantiVAR_024046457A → V in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033286EnsemblClinVar.1
Natural variantiVAR_027306458N → I in DFNA11. 1 PublicationCorresponds to variant dbSNP:rs121965084EnsemblClinVar.1
Natural variantiVAR_009327468H → HQ in USH1B. 1 Publication1
Natural variantiVAR_009328503P → L in USH1B. 1 Publication1
Natural variantiVAR_024047519G → D in USH1B; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033206EnsemblClinVar.1
Natural variantiVAR_009329597V → I Rare polymorphism. 1
Natural variantiVAR_009330599M → I in DFNB2. 1 PublicationCorresponds to variant dbSNP:rs121965082EnsemblClinVar.1
Natural variantiVAR_056187602E → K. Corresponds to variant dbSNP:rs2276282Ensembl.1
Natural variantiVAR_009331651L → P in USH1B; atypical. 1 PublicationCorresponds to variant dbSNP:rs876657416EnsemblClinVar.1
Natural variantiVAR_079504652C → R in DFNB2. 1 Publication1
Natural variantiVAR_056188679V → I. Corresponds to variant dbSNP:rs35641839EnsemblClinVar.1
Natural variantiVAR_027307722G → R in DFNA11. 1 Publication1
Natural variantiVAR_024048756R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs782174733EnsemblClinVar.1
Natural variantiVAR_009332826A → T in USH1B. 1 PublicationCorresponds to variant dbSNP:rs368341987EnsemblClinVar.1
Natural variantiVAR_027308853R → C in DFNA11; disturb calmodulin/MYO7A binding. 1 Publication1
Natural variantiVAR_009333886 – 888Missing in DFNA11. 1 Publication3
Natural variantiVAR_071646946M → R in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1296612982Ensembl.1
Natural variantiVAR_009334955G → S in USH1B. 1 PublicationCorresponds to variant dbSNP:rs781988557EnsemblClinVar.1
Natural variantiVAR_024049968E → D in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs111033233EnsemblClinVar.1
Natural variantiVAR_0093351087L → P in USH1B. 1 PublicationCorresponds to variant dbSNP:rs375050157EnsemblClinVar.1
Natural variantiVAR_0093361170E → K in USH1B. 3 PublicationsCorresponds to variant dbSNP:rs111033214EnsemblClinVar.1
Natural variantiVAR_0093371240R → Q in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs111033178EnsemblClinVar.1
Natural variantiVAR_0716471248E → K in USH1B. 1 Publication1
Natural variantiVAR_0093381288A → P in USH1B. 1 PublicationCorresponds to variant dbSNP:rs749747871Ensembl.1
Natural variantiVAR_0273091327E → K in USH1B. 1 PublicationCorresponds to variant dbSNP:rs373169422EnsemblClinVar.1
Natural variantiVAR_0093391343R → S in USH1B. Corresponds to variant dbSNP:rs763469001EnsemblClinVar.1
Natural variantiVAR_0240501346Missing in USH1B. 1 Publication1
Natural variantiVAR_0273101347 – 1351Missing in USH1B. 1 Publication5
Natural variantiVAR_0273111566T → M2 PublicationsCorresponds to variant dbSNP:rs41298747EnsemblClinVar.1
Natural variantiVAR_0093401602R → Q in USH1B; atypical. 2 PublicationsCorresponds to variant dbSNP:rs139889944EnsemblClinVar.1
Natural variantiVAR_0093411628A → S in USH1B. 1
Natural variantiVAR_0093431666S → C2 PublicationsCorresponds to variant dbSNP:rs2276288EnsemblClinVar.1
Natural variantiVAR_0273121666S → G. 1
Natural variantiVAR_0093441719Y → C3 PublicationsCorresponds to variant dbSNP:rs77625410EnsemblClinVar.1
Natural variantiVAR_0273131740G → S. Corresponds to variant dbSNP:rs12275336Ensembl.1
Natural variantiVAR_0240511743R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033287EnsemblClinVar.1
Natural variantiVAR_0740741812E → K in USH1B. 1 PublicationCorresponds to variant dbSNP:rs377267777Ensembl.1
Natural variantiVAR_0240521858L → P in USH1B. 2 PublicationsCorresponds to variant dbSNP:rs368657015EnsemblClinVar.1
Natural variantiVAR_0273141873R → W in USH1B. 1 PublicationCorresponds to variant dbSNP:rs397516321EnsemblClinVar.1
Natural variantiVAR_0240531883R → Q in USH1B. 1 PublicationCorresponds to variant dbSNP:rs111033215EnsemblClinVar.1
Natural variantiVAR_0240541887P → L in USH1B. 1 PublicationCorresponds to variant dbSNP:rs199606180EnsemblClinVar.1
Natural variantiVAR_0093451954L → I2 PublicationsCorresponds to variant dbSNP:rs948962EnsemblClinVar.1
Natural variantiVAR_0273151962Missing in USH1B. 1 Publication1
Natural variantiVAR_0093461992F → I. Corresponds to variant dbSNP:rs771906493Ensembl.1
Natural variantiVAR_0093472137G → E in USH1B. 1 PublicationCorresponds to variant dbSNP:rs1191025888Ensembl.1
Natural variantiVAR_0273162142D → N. Corresponds to variant dbSNP:rs1132036EnsemblClinVar.1
Natural variantiVAR_0093482163G → S in USH1B. Corresponds to variant dbSNP:rs747656448EnsemblClinVar.1
Natural variantiVAR_0240552187G → D in USH1B. 1 PublicationCorresponds to variant dbSNP:rs397516332EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0537931 – 11Missing in isoform 8. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_003353284 – 360Missing in isoform 5. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_003354519 – 564Missing in isoform 5. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0033551095E → EVLQ in isoform 4. 1 Publication1
Alternative sequenceiVSP_0033581096 – 1125Missing in isoform 6. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0033561169 – 1200DEIYC…SLCVG → SVPESLLVAEWCLCQPSKRL SQAWPGFGFAAS in isoform 3 and isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0033571201 – 2215Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST1015
Alternative sequenceiVSP_0033591433 – 1470Missing in isoform 7. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0033601524 – 1561Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_0458482117 – 2118Missing in isoform 2. 1 Publication2

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

More...
DDBJi
Links Updated
U39226 mRNA Translation: AAB03679.1
U55208 mRNA Translation: AAC50927.1
U55209 mRNA Translation: AAC50722.1
AP000752 Genomic DNA No translation available.
AP001855 Genomic DNA No translation available.
L29146 mRNA Translation: AAA20909.1
U34227 mRNA Translation: AAC50218.1
BF869194 mRNA No translation available.
AH006665 Genomic DNA Translation: AAC51150.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS53683.1 [Q13402-1]
CCDS53684.1 [Q13402-2]

Protein sequence database of the Protein Information Resource

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PIRi
A59255
A59257
I61697

NCBI Reference Sequences

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RefSeqi
NP_000251.3, NM_000260.3 [Q13402-1]
NP_001120652.1, NM_001127180.1 [Q13402-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000409619; ENSP00000386635; ENSG00000137474 [Q13402-8]
ENST00000409709; ENSP00000386331; ENSG00000137474 [Q13402-1]
ENST00000458637; ENSP00000392185; ENSG00000137474 [Q13402-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4647

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4647

UCSC genome browser

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UCSCi
uc001oyb.3 human [Q13402-1]

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

Hereditary hearing loss homepage

Gene page

Mutations of the MYO7A gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U39226 mRNA Translation: AAB03679.1
U55208 mRNA Translation: AAC50927.1
U55209 mRNA Translation: AAC50722.1
AP000752 Genomic DNA No translation available.
AP001855 Genomic DNA No translation available.
L29146 mRNA Translation: AAA20909.1
U34227 mRNA Translation: AAC50218.1
BF869194 mRNA No translation available.
AH006665 Genomic DNA Translation: AAC51150.1
CCDSiCCDS53683.1 [Q13402-1]
CCDS53684.1 [Q13402-2]
PIRiA59255
A59257
I61697
RefSeqiNP_000251.3, NM_000260.3 [Q13402-1]
NP_001120652.1, NM_001127180.1 [Q13402-2]

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
5MV9X-ray2.60A1702-2215[»]
SMRiQ13402
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110731, 14 interactors
CORUMiQ13402
ELMiQ13402
IntActiQ13402, 5 interactors
MINTiQ13402
STRINGi9606.ENSP00000386331

PTM databases

iPTMnetiQ13402
PhosphoSitePlusiQ13402

Polymorphism and mutation databases

BioMutaiMYO7A
DMDMi460018219

Proteomic databases

jPOSTiQ13402
MassIVEiQ13402
PaxDbiQ13402
PeptideAtlasiQ13402
PRIDEiQ13402
ProteomicsDBi28745
59375 [Q13402-1]
59376 [Q13402-2]
59377 [Q13402-3]
59378 [Q13402-4]
59379 [Q13402-5]
59380 [Q13402-6]
59381 [Q13402-7]
7477

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4647
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409619; ENSP00000386635; ENSG00000137474 [Q13402-8]
ENST00000409709; ENSP00000386331; ENSG00000137474 [Q13402-1]
ENST00000458637; ENSP00000392185; ENSG00000137474 [Q13402-2]
GeneIDi4647
KEGGihsa:4647
UCSCiuc001oyb.3 human [Q13402-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4647
DisGeNETi4647

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYO7A
GeneReviewsiMYO7A
HGNCiHGNC:7606 MYO7A
HPAiCAB034059
HPA028918
MalaCardsiMYO7A
MIMi276900 phenotype
276903 gene
600060 phenotype
601317 phenotype
neXtProtiNX_Q13402
OpenTargetsiENSG00000137474
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1
231178 Usher syndrome type 2
PharmGKBiPA31411

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4229 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00940000155350
HOGENOMiHOG000007836
InParanoidiQ13402
KOiK10359
OMAiFNIEEAH
OrthoDBi527681at2759
PhylomeDBiQ13402
TreeFamiTF335306

Enzyme and pathway databases

ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Miscellaneous databases

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

More...
ChiTaRSi
MYO7A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MYO7A

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

More...
GenomeRNAii
4647

Pharos

More...
Pharosi
Q13402

Protein Ontology

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PROi
PR:Q13402

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137474 Expressed in 149 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiQ13402 baseline and differential
GenevisibleiQ13402 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 2 hits
cd13198 FERM_C1_MyoVII, 1 hit
cd13199 FERM_C2_MyoVII, 1 hit
cd01381 MYSc_Myo7, 1 hit
Gene3Di1.20.80.10, 2 hits
1.25.40.530, 2 hits
2.30.29.30, 3 hits
2.30.30.360, 1 hit
3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR008989 Myosin_S1_N
IPR041793 MyoVII_FERM_C1
IPR041794 MyoVII_FERM_C2
IPR036106 MYSc_Myo7
IPR000857 MyTH4_dom
IPR038185 MyTH4_dom_sf
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00612 IQ, 2 hits
PF00063 Myosin_head, 1 hit
PF00784 MyTH4, 2 hits
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00295 B41, 2 hits
SM00015 IQ, 4 hits
SM00242 MYSc, 1 hit
SM00139 MyTH4, 2 hits
SM00326 SH3, 1 hit
SUPFAMiSSF47031 SSF47031, 2 hits
SSF50044 SSF50044, 1 hit
SSF52540 SSF52540, 2 hits
SSF54236 SSF54236, 2 hits
PROSITEiView protein in PROSITE
PS50057 FERM_3, 2 hits
PS50096 IQ, 3 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51016 MYTH4, 2 hits
PS50002 SH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiMYO7A_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: Q13402
Secondary accession number(s): B9A011
, F8VUN5, P78427, Q13321, Q14785, Q92821, Q92822
<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: December 1, 2000
Last sequence update: March 6, 2013
Last modified: September 18, 2019
This is version 219 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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