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UniProtKB - Q9UM54 (MYO6_HUMAN)

Entry version 199 (18 Sep 2019)
Sequence version 4 (09 Jan 2007)
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Protein

Unconventional myosin-VI

Gene

MYO6

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 (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370).By similarity5 Publications

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-6 (MYH6).Curated
Originally predicted to contain a coiled coil domain but generally accepted to contain a stable SAH domain instead.Curated

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 bindingi151 – 158ATPSequence analysis8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processEndocytosis, Hearing, Protein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-190873 Gap junction degradation
R-HSA-399719 Trafficking of AMPA receptors

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UM54

<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-VI
Alternative name(s):
Unconventional myosin-6
<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:MYO6Imported
Synonyms:KIAA0389
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7605 MYO6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600970 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UM54

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Coated pit, Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane, Nucleus

<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

Deafness, autosomal dominant, 22 (DFNA22)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. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness.
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_012110442C → Y in DFNA22. 1 Publication1
Deafness, autosomal recessive, 37 (DFNB37)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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016209216E → V in DFNB37. 1 PublicationCorresponds to variant dbSNP:rs121912559EnsemblClinVar.1
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029988246H → R in DFNHCM. 1 PublicationCorresponds to variant dbSNP:rs121912560EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		4646

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

More...GeneReviewsi		MYO6

MalaCards human disease database

More...MalaCardsi		MYO6
MIMi606346 phenotype
607821 phenotype

Open Targets

More...OpenTargetsi		ENSG00000196586

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
228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31410

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MYO6

Domain mapping of disease mutations (DMDM)

More...DMDMi		122065628

<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_00001234641 – 1294Unconventional myosin-VIAdd BLAST1294

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 residuei267PhosphoserineCombined sources1
Modified residuei405PhosphothreonineCombined sources1
Modified residuei604PhosphoserineBy similarity1
Modified residuei1025PhosphoserineBy similarity1
Modified residuei1155PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK).1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UM54

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UM54

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UM54

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UM54

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

More...PaxDbi		Q9UM54

PeptideAtlas

More...PeptideAtlasi		Q9UM54

PRoteomics IDEntifications database

More...PRIDEi		Q9UM54

ProteomicsDB human proteome resource

More...ProteomicsDBi		85177 [Q9UM54-3]
85178 [Q9UM54-1]
85179 [Q9UM54-2]
85180 [Q9UM54-4]
85181 [Q9UM54-5]
85182 [Q9UM54-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UM54

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

More...PhosphoSitePlusi		Q9UM54

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9UM54

<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 most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and isoform 4, containing neither insert, are expressed in unpolarized epithelial cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196586 Expressed in 217 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UM54 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UM54 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010762
HPA035483

<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

Homodimer; dimerization seems to implicate the unfolding of the three-helix bundle region creating an additional calmodulin binding site, and cargo binding (By similarity). Able to function as a monomer under specific conditions in vitro (PubMed:15044955).

Forms a complex with CFTR and DAB2 in the apical membrane of epithelial cells (PubMed:15247260).

Component of the DISP/DOCK7-induced septin displacement complex, at least composed of DOCK7, LRCH3 and MYO6 (PubMed:29467281). Binding to calmodulin through a unique insert, not found in other myosins, located in the neck region between the motor domain and the IQ domain appears to contribute to the directionality reversal (By similarity). This interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium (By similarity). Interaction with F-actin/ACTN1 occurs only at the apical brush border domain of the proximal tubule cells (By similarity).

Interacts with DAB2 (PubMed:11967127). In vitro, the C-terminal globular tail binds a C-terminal region of DAB2 (By similarity).

Interacts with CFTR (PubMed:15247260).

Interacts with OPTN (By similarity).

Interacts with CABP5 (By similarity).

By similarity4 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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110730, 216 interactors

Database of interacting proteins

More...DIPi		DIP-33123N

Protein interaction database and analysis system

More...IntActi		Q9UM54, 65 interactors

Molecular INTeraction database

More...MINTi		Q9UM54

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358994

<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

11294
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9UM54

Database of comparative protein structure models

More...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>Domaini2 – 53Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST52
Domaini57 – 771Myosin motorPROSITE-ProRule annotationAdd BLAST715
Domaini814 – 834IQBy similarityAdd BLAST21

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>Regioni273 – 317Responsible for slow ATPase activityBy similarityAdd BLAST45
Regioni665 – 672Actin-bindingSequence analysis8
Regioni782 – 810Required for binding calmodulinBy similarityAdd BLAST29
Regioni835 – 916Three-helix bundleBy similarityAdd BLAST82
Regioni917 – 984SAH1 PublicationAdd BLAST68
Regioni1116 – 1118Interaction with OPTNBy similarity3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi920 – 1027Glu-richAdd BLAST108

<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

Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a three-helix bundle region, a SAH domain and a unique globular domain required for interaction with other proteins such as cargo-binding.By similarity
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 (PubMed:18511944). Its contribution to the mechanism confering the myosin movement on actin filaments is debated (PubMed:18511944).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

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0163 Eukaryota
COG5022 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156078

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UM54

KEGG Orthology (KO)

More...KOi		K10358

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UM54

TreeFam database of animal gene trees

More...TreeFami		TF351449

Family and domain databases

Conserved Domains Database

More...CDDi		cd01382 MYSc_Myo6, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		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
IPR036961 Kinesin_motor_dom_sf
IPR032412 Myosin-VI_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036114 MYSc_Myo6
IPR027417 P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16521 Myosin-VI_CBD, 1 hit
PF00063 Myosin_head, 1 hit

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
SM00242 MYSc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 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 (6+)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 6 <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 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q9UM54-3) [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
MEDGKPVWAP HPTDGFQMGN IVDIGPDSLT IEPLNQKGKT FLALINQVFP 
        60         70         80         90        100
AEEDSKKDVE DNCSLMYLNE ATLLHNIKVR YSKDRIYTYV ANILIAVNPY 
       110        120        130        140        150
FDIPKIYSSE AIKSYQGKSL GTRPPHVFAI ADKAFRDMKV LKMSQSIIVS 
       160        170        180        190        200
GESGAGKTEN TKFVLRYLTE SYGTGQDIDD RIVEANPLLE AFGNAKTVRN 
       210        220        230        240        250
NNSSRFGKFV EIHFNEKSSV VGGFVSHYLL EKSRICVQGK EERNYHIFYR 
       260        270        280        290        300
LCAGASEDIR EKLHLSSPDN FRYLNRGCTR YFANKETDKQ ILQNRKSPEY 
       310        320        330        340        350
LKAGSMKDPL LDDHGDFIRM CTAMKKIGLD DEEKLDLFRV VAGVLHLGNI 
       360        370        380        390        400
DFEEAGSTSG GCNLKNKSAQ SLEYCAELLG LDQDDLRVSL TTRVMLTTAG 
       410        420        430        440        450
GTKGTVIKVP LKVEQANNAR DALAKTVYSH LFDHVVNRVN QCFPFETSSY 
       460        470        480        490        500
FIGVLDIAGF EYFEHNSFEQ FCINYCNEKL QQFFNERILK EEQELYQKEG 
       510        520        530        540        550
LGVNEVHYVD NQDCIDLIEA KLVGILDILD EENRLPQPSD QHFTSAVHQK 
       560        570        580        590        600
HKDHFRLTIP RKSKLAVHRN IRDDEGFIIR HFAGAVCYET TQFVEKNNDA 
       610        620        630        640        650
LHMSLESLIC ESRDKFIREL FESSTNNNKD TKQKAGKLSF ISVGNKFKTQ 
       660        670        680        690        700
LNLLLDKLRS TGASFIRCIK PNLKMTSHHF EGAQILSQLQ CSGMVSVLDL 
       710        720        730        740        750
MQGGYPSRAS FHELYNMYKK YMPDKLARLD PRLFCKALFK ALGLNENDYK 
       760        770        780        790        800
FGLTKVFFRP GKFAEFDQIM KSDPDHLAEL VKRVNHWLTC SRWKKVQWCS 
       810        820        830        840        850
LSVIKLKNKI KYRAEACIKM QKTIRMWLCK RRHKPRIDGL VKVGTLKKRL 
       860        870        880        890        900
DKFNEVVSVL KDGKPEMNKQ IKNLEISIDT LMAKIKSTMM TQEQIQKEYD 
       910        920        930        940        950
ALVKSSEELL SALQKKKQQE EEAERLRRIQ EEMEKERKRR EEDEKRRRKE 
       960        970        980        990       1000
EEERRMKLEM EAKRKQEEEE RKKREDDEKR IQAEVEAQLA RQKEEESQQQ 
      1010       1020       1030       1040       1050
AVLEQERRDR ELALRIAQSE AELISDEAQA DLALRRSLDS YPVSKNDGTR 
      1060       1070       1080       1090       1100
PKMTPEQMAK EMSEFLSRGP AVLATKAAAG TKKYDLSKWK YAELRDTINT 
      1110       1120       1130       1140       1150
SCDIELLAAC REEFHRRLKV YHAWKSKNKK RNTETEQRAP KSVTDYDFAP 
      1160       1170       1180       1190       1200
FLNNSPQQNP AAQIPARQRE IEMNRQQRFF RIPFIRPADQ YKDPQSKKKG 
      1210       1220       1230       1240       1250
WWYAHFDGPW IARQMELHPD KPPILLVAGK DDMEMCELNL EETGLTRKRG 
      1260       1270       1280       1290 
AEILPRQFEE IWERCGGIQY LQNAIESRQA RPTYATAMLQ SLLK
Length:1,294
Mass (Da):149,691
Last modified:January 9, 2007 - v4
<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:i3A8966E6864B8576
GO
Isoform 1 (identifier: Q9UM54-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1045: Missing.

Show »
Length:1,285
Mass (Da):148,714
Checksum:iBCB4FDFE920712CD
GO
Isoform 2 (identifier: Q9UM54-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1068: Missing.

Show »
Length:1,262
Mass (Da):146,048
Checksum:iCF1FA35796FC1C60
GO
Isoform 4 (identifier: Q9UM54-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1147-1155: Missing.

Show »
Length:1,285
Mass (Da):148,685
Checksum:iF68A79F74AB9170C
GO
Isoform 5 (identifier: Q9UM54-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1068: Missing.
     1147-1155: Missing.

Show »
Length:1,253
Mass (Da):145,042
Checksum:iDD739BA2DD557EEF
GO
Isoform 6 (identifier: Q9UM54-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1147-1156: DFAPFLNNSP → A

Show »
Length:1,285
Mass (Da):148,659
Checksum:iEAE6008E2FAC170C
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRM8A0A0A0MRM8_HUMAN
Unconventional myosin-VI
MYO6
1,253Annotation 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>
E7EW20E7EW20_HUMAN
Unconventional myosin-VI
MYO6
1,295Annotation 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>
A0A0D9SGC1A0A0D9SGC1_HUMAN
Unconventional myosin-VI
MYO6
1,294Annotation 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>
Q5JVM0Q5JVM0_HUMAN
Unconventional myosin-VI
MYO6
174Annotation 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 BAA20843 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016209216E → V in DFNB37. 1 PublicationCorresponds to variant dbSNP:rs121912559EnsemblClinVar.1
Natural variantiVAR_029988246H → R in DFNHCM. 1 PublicationCorresponds to variant dbSNP:rs121912560EnsemblClinVar.1
Natural variantiVAR_012110442C → Y in DFNA22. 1 Publication1

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_0079851037 – 1068Missing in isoform 2 and isoform 5. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0223321037 – 1045Missing in isoform 1. 2 Publications9
Alternative sequenceiVSP_0422081147 – 1156DFAPFLNNSP → A in isoform 6. 1 Publication10
Alternative sequenceiVSP_0223331147 – 1155Missing in isoform 4 and isoform 5. Curated9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U90236 mRNA Translation: AAC51654.2
AF229111
, AF229082, AF229083, AF229084, AF229085, AF229086, AF229087, AF229088, AF229089, AF229090, AF229091, AF229092, AF229093, AF229094, AF229095, AF229096, AF229097, AF229098, AF229099, AF229100, AF229101, AF229102, AF229103, AF229104, AF229105, AF229106, AF229107, AF229108, AF229109, AF229110 Genomic DNA Translation: AAK00229.1
AL109897 Genomic DNA No translation available.
AL136093 Genomic DNA No translation available.
AB002387 mRNA Translation: BAA20843.2 Different initiation.
CH471051 Genomic DNA Translation: EAW48730.1
CH471051 Genomic DNA Translation: EAW48731.1
BC146764 mRNA Translation: AAI46765.1
BP333853 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34487.1 [Q9UM54-1]
CCDS75481.1 [Q9UM54-2]

NCBI Reference Sequences

More...RefSeqi		NP_001287828.1, NM_001300899.1 [Q9UM54-2]
NP_004990.3, NM_004999.3 [Q9UM54-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369977; ENSP00000358994; ENSG00000196586 [Q9UM54-1]
ENST00000369985; ENSP00000359002; ENSG00000196586 [Q9UM54-2]
ENST00000615563; ENSP00000478013; ENSG00000196586 [Q9UM54-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4646

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4646

UCSC genome browser

More...UCSCi		uc003pih.2 human [Q9UM54-3]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90236 mRNA Translation: AAC51654.2
AF229111
, AF229082, AF229083, AF229084, AF229085, AF229086, AF229087, AF229088, AF229089, AF229090, AF229091, AF229092, AF229093, AF229094, AF229095, AF229096, AF229097, AF229098, AF229099, AF229100, AF229101, AF229102, AF229103, AF229104, AF229105, AF229106, AF229107, AF229108, AF229109, AF229110 Genomic DNA Translation: AAK00229.1
AL109897 Genomic DNA No translation available.
AL136093 Genomic DNA No translation available.
AB002387 mRNA Translation: BAA20843.2 Different initiation.
CH471051 Genomic DNA Translation: EAW48730.1
CH471051 Genomic DNA Translation: EAW48731.1
BC146764 mRNA Translation: AAI46765.1
BP333853 mRNA No translation available.
CCDSiCCDS34487.1 [Q9UM54-1]
CCDS75481.1 [Q9UM54-2]
RefSeqiNP_001287828.1, NM_001300899.1 [Q9UM54-2]
NP_004990.3, NM_004999.3 [Q9UM54-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N0ZNMR-A1080-1122[»]
2N10NMR-A1080-1131[»]
2N11NMR-A998-1071[»]
2N12NMR-A1050-1131[»]
2N13NMR-A/D1080-1122[»]
SMRiQ9UM54
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110730, 216 interactors
DIPiDIP-33123N
IntActiQ9UM54, 65 interactors
MINTiQ9UM54
STRINGi9606.ENSP00000358994

PTM databases

iPTMnetiQ9UM54
PhosphoSitePlusiQ9UM54
SwissPalmiQ9UM54

Polymorphism and mutation databases

BioMutaiMYO6
DMDMi122065628

Proteomic databases

EPDiQ9UM54
jPOSTiQ9UM54
MassIVEiQ9UM54
MaxQBiQ9UM54
PaxDbiQ9UM54
PeptideAtlasiQ9UM54
PRIDEiQ9UM54
ProteomicsDBi85177 [Q9UM54-3]
85178 [Q9UM54-1]
85179 [Q9UM54-2]
85180 [Q9UM54-4]
85181 [Q9UM54-5]
85182 [Q9UM54-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369977; ENSP00000358994; ENSG00000196586 [Q9UM54-1]
ENST00000369985; ENSP00000359002; ENSG00000196586 [Q9UM54-2]
ENST00000615563; ENSP00000478013; ENSG00000196586 [Q9UM54-2]
GeneIDi4646
KEGGihsa:4646
UCSCiuc003pih.2 human [Q9UM54-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4646
DisGeNETi4646

GeneCards: human genes, protein and diseases

More...GeneCardsi		MYO6
GeneReviewsiMYO6
HGNCiHGNC:7605 MYO6
HPAiCAB010762
HPA035483
MalaCardsiMYO6
MIMi600970 gene
606346 phenotype
607821 phenotype
neXtProtiNX_Q9UM54
OpenTargetsiENSG00000196586
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
PharmGKBiPA31410

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0163 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00940000156078
InParanoidiQ9UM54
KOiK10358
PhylomeDBiQ9UM54
TreeFamiTF351449

Enzyme and pathway databases

ReactomeiR-HSA-190873 Gap junction degradation
R-HSA-399719 Trafficking of AMPA receptors
SIGNORiQ9UM54

Miscellaneous databases

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

More...ChiTaRSi		MYO6 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MYO6

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

More...GenomeRNAii		4646

Pharos

More...Pharosi		Q9UM54

Protein Ontology

More...PROi		PR:Q9UM54

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196586 Expressed in 217 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9UM54 baseline and differential
GenevisibleiQ9UM54 HS

Family and domain databases

CDDicd01382 MYSc_Myo6, 1 hit
Gene3Di2.30.30.360, 1 hit
3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR036961 Kinesin_motor_dom_sf
IPR032412 Myosin-VI_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036114 MYSc_Myo6
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF16521 Myosin-VI_CBD, 1 hit
PF00063 Myosin_head, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYO6_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: Q9UM54
Secondary accession number(s): A6H8V4
, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2
<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: April 27, 2001
Last sequence update: January 9, 2007
Last modified: September 18, 2019
This is version 199 of the entry and version 4 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 6
    Human chromosome 6: 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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