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UniProtKB - Q9BUK6 (MSTO1_HUMAN)

Entry version 154 (17 Jun 2020)
Sequence version 1 (01 Jun 2001)
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Protein

Protein misato homolog 1

Gene

MSTO1

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

Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275).3 Publications

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

Complete GO annotation on QuickGO ...

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein misato homolog 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MSTO1
ORF Names:LST005, SLTP005
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic 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%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000125459.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:29678 MSTO1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617619 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BUK6

<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

<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>Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, mitochondrial, and ataxia (MMYAT)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others.
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_0798898V → M in MMYAT; autosomal dominant; patient cells show decreased mitochondrial fusion and mitochondrial network formation; patient cells show increased mitochondria aggregation and fragmentation. 1 PublicationCorresponds to variant dbSNP:rs762798018Ensembl.1
Natural variantiVAR_035046324T → I in MMYAT; unknown pathological significance; compound heterozygous with a splice site mutation. 1 PublicationCorresponds to variant dbSNP:rs622288EnsemblClinVar.1
Natural variantiVAR_079890345R → C in MMYAT; unknown pathological significance; compound heterozygous with L-376. 1 PublicationCorresponds to variant dbSNP:rs749922789EnsemblClinVar.1
Natural variantiVAR_079891376F → L in MMYAT; unknown pathological significance; compound heterozygous with C-345. 1 PublicationCorresponds to variant dbSNP:rs1553295536EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		55154

MalaCards human disease database

More...MalaCardsi		MSTO1
MIMi617675 phenotype

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

More...Orphaneti		502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671313

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BUK6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MSTO1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752357

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003046261 – 570Protein misato homolog 1Add BLAST570

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 residuei495PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BUK6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BUK6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BUK6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BUK6

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

More...PaxDbi		Q9BUK6

PeptideAtlas

More...PeptideAtlasi		Q9BUK6

PRoteomics IDEntifications database

More...PRIDEi		Q9BUK6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79098 [Q9BUK6-1]
79099 [Q9BUK6-2]
79100 [Q9BUK6-3]
79101 [Q9BUK6-4]
79102 [Q9BUK6-5]
79103 [Q9BUK6-6]
79104 [Q9BUK6-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BUK6

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

More...PhosphoSitePlusi		Q9BUK6

<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

Present in all cell lines tested (at protein level). Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125459 Expressed in left testis and 87 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BUK6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BUK6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125459 Low tissue specificity

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

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120457, 27 interactors

Protein interaction database and analysis system

More...IntActi		Q9BUK6, 22 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000245564

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BUK6 protein

<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

<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 misato family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2530 Eukaryota
ENOG410XPM0 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000064067

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_184878_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BUK6

Identification of Orthologs from Complete Genome Data

More...OMAi		LQLYYQC

Database of Orthologous Groups

More...OrthoDBi		1321917at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BUK6

TreeFam database of animal gene trees

More...TreeFami		TF323669

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029209 DML1/Misato_tubulin
IPR019605 Misato_II_tubulin-like
IPR036525 Tubulin/FtsZ_GTPase_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10644 Misat_Tub_SegII, 1 hit
PF14881 Tubulin_3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52490 SSF52490, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BUK6-1) [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
MAGGAREVLT LQLGHFAGFV GAHWWNQQDA ALGRATDSKE PPGELCPDVL 
        60         70         80         90        100
YRTGRTLHGQ ETYTPRLILM DLKGSLSSLK EEGGLYRDKQ LDAAIAWQGK 
       110        120        130        140        150
LTTHKEELYP KNPYLQDFLS AEGVLSSDGV WRVKSIPNGK GSSPLPTATT 
       160        170        180        190        200
PKPLIPTEAS IRVWSDFLRV HLHPRSICMI QKYNHDGEAG RLEAFGQGES 
       210        220        230        240        250
VLKEPKYQEE LEDRLHFYVE ECDYLQGFQI LCDLHDGFSG VGAKAAELLQ 
       260        270        280        290        300
DEYSGRGIIT WGLLPGPYHR GEAQRNIYRL LNTAFGLVHL TAHSSLVCPL 
       310        320        330        340        350
SLGGSLGLRP EPPVSFPYLH YDATLPFHCS AILATALDTV TVPYRLCSSP 
       360        370        380        390        400
VSMVHLADML SFCGKKVVTA GAIIPFPLAP GQSLPDSLMQ FGGATPWTPL 
       410        420        430        440        450
SACGEPSGTR CFAQSVVLRG IDRACHTSQL TPGTPPPSAL HACTTGEEIL 
       460        470        480        490        500
AQYLQQQQPG VMSSSHLLLT PCRVAPPYPH LFSSCSPPGM VLDGSPKGAA 
       510        520        530        540        550
VESIPVFGAL CSSSSLHQTL EALARDLTKL DLRRWASFMD AGVEHDDVAE 
       560        570
LLQELQSLAQ CYQGGDSLVD
Length:570
Mass (Da):61,835
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA139748AF2798619
GO
Isoform 2 (identifier: Q9BUK6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     499-499: Missing.

Show »
Length:569
Mass (Da):61,764
Checksum:iBEF188A94366DA80
GO
Isoform 3 (identifier: Q9BUK6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     489-500: Missing.

Show »
Length:558
Mass (Da):60,751
Checksum:i7608363DFE62A188
GO
Isoform 4 (identifier: Q9BUK6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-99: QG → EC
     100-570: Missing.

Show »
Length:99
Mass (Da):10,886
Checksum:i3EF3D20EA7056658
GO
Isoform 5 (identifier: Q9BUK6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     499-499: Missing.

Show »
Length:391
Mass (Da):42,151
Checksum:i9540473C3F1E7346
GO
Isoform 6 (identifier: Q9BUK6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-388: Missing.

Show »
Length:182
Mass (Da):19,278
Checksum:i018C425E9BEB648F
GO
Isoform 7 (identifier: Q9BUK6-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-139: Missing.
     489-499: Missing.

Show »
Length:524
Mass (Da):56,903
Checksum:i9741EB34DB6A33B6
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GYF2V9GYF2_HUMAN
Protein misato homolog 1
MSTO1
78Annotation 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>
A0A3B3IUD2A0A3B3IUD2_HUMAN
Protein misato homolog 1
MSTO1
557Annotation 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 AAM12424 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti389M → V in BAA91651 (PubMed:14702039).Curated1
Sequence conflicti482F → S in AK092950 (PubMed:14702039).Curated1
Sequence conflicti563Q → P in CAI59784 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0798898V → M in MMYAT; autosomal dominant; patient cells show decreased mitochondrial fusion and mitochondrial network formation; patient cells show increased mitochondria aggregation and fragmentation. 1 PublicationCorresponds to variant dbSNP:rs762798018Ensembl.1
Natural variantiVAR_035046324T → I in MMYAT; unknown pathological significance; compound heterozygous with a splice site mutation. 1 PublicationCorresponds to variant dbSNP:rs622288EnsemblClinVar.1
Natural variantiVAR_079890345R → C in MMYAT; unknown pathological significance; compound heterozygous with L-376. 1 PublicationCorresponds to variant dbSNP:rs749922789EnsemblClinVar.1
Natural variantiVAR_079891376F → L in MMYAT; unknown pathological significance; compound heterozygous with C-345. 1 PublicationCorresponds to variant dbSNP:rs1553295536EnsemblClinVar.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_0280491 – 388Missing in isoform 6. 1 PublicationAdd BLAST388
Alternative sequenceiVSP_0280501 – 178Missing in isoform 5. 1 PublicationAdd BLAST178
Alternative sequenceiVSP_02805198 – 99QG → EC in isoform 4. 1 Publication2
Alternative sequenceiVSP_028052100 – 570Missing in isoform 4. 1 PublicationAdd BLAST471
Alternative sequenceiVSP_028053105 – 139Missing in isoform 7. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_028054489 – 500Missing in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_028055489 – 499Missing in isoform 7. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_028056499Missing in isoform 2 and isoform 5. 2 Publications1

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
AF111708 mRNA Translation: AAM12424.1 Frameshift.
AY334564 mRNA Translation: AAP94730.1
AK001366 mRNA Translation: BAA91651.1
AK092950 mRNA No translation available.
AK222863 mRNA Translation: BAD96583.1
BX537684 mRNA Translation: CAD97810.1
CR749791 mRNA Translation: CAH18652.1
CR936872 Transcribed RNA Translation: CAI59784.1
AL353807 Genomic DNA No translation available.
BC002535 mRNA Translation: AAH02535.1
AF272833 mRNA Translation: AAF81794.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1114.1 [Q9BUK6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001243461.1, NM_001256532.1 [Q9BUK6-2]
NP_001243462.1, NM_001256533.1 [Q9BUK6-3]
NP_060586.2, NM_018116.3 [Q9BUK6-1]
XP_011508010.1, XM_011509708.1 [Q9BUK6-5]
XP_016857098.1, XM_017001609.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000245564; ENSP00000245564; ENSG00000125459 [Q9BUK6-1]
ENST00000368341; ENSP00000357325; ENSG00000125459 [Q9BUK6-7]
ENST00000490743; ENSP00000476353; ENSG00000125459 [Q9BUK6-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55154

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55154

UCSC genome browser

More...UCSCi		uc001fky.5 human [Q9BUK6-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111708 mRNA Translation: AAM12424.1 Frameshift.
AY334564 mRNA Translation: AAP94730.1
AK001366 mRNA Translation: BAA91651.1
AK092950 mRNA No translation available.
AK222863 mRNA Translation: BAD96583.1
BX537684 mRNA Translation: CAD97810.1
CR749791 mRNA Translation: CAH18652.1
CR936872 Transcribed RNA Translation: CAI59784.1
AL353807 Genomic DNA No translation available.
BC002535 mRNA Translation: AAH02535.1
AF272833 mRNA Translation: AAF81794.1
CCDSiCCDS1114.1 [Q9BUK6-1]
RefSeqiNP_001243461.1, NM_001256532.1 [Q9BUK6-2]
NP_001243462.1, NM_001256533.1 [Q9BUK6-3]
NP_060586.2, NM_018116.3 [Q9BUK6-1]
XP_011508010.1, XM_011509708.1 [Q9BUK6-5]
XP_016857098.1, XM_017001609.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120457, 27 interactors
IntActiQ9BUK6, 22 interactors
STRINGi9606.ENSP00000245564

PTM databases

iPTMnetiQ9BUK6
PhosphoSitePlusiQ9BUK6

Polymorphism and mutation databases

BioMutaiMSTO1
DMDMi74752357

Proteomic databases

EPDiQ9BUK6
jPOSTiQ9BUK6
MassIVEiQ9BUK6
MaxQBiQ9BUK6
PaxDbiQ9BUK6
PeptideAtlasiQ9BUK6
PRIDEiQ9BUK6
ProteomicsDBi79098 [Q9BUK6-1]
79099 [Q9BUK6-2]
79100 [Q9BUK6-3]
79101 [Q9BUK6-4]
79102 [Q9BUK6-5]
79103 [Q9BUK6-6]
79104 [Q9BUK6-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		35210 100 antibodies

The DNASU plasmid repository

More...DNASUi		55154

Genome annotation databases

EnsembliENST00000245564; ENSP00000245564; ENSG00000125459 [Q9BUK6-1]
ENST00000368341; ENSP00000357325; ENSG00000125459 [Q9BUK6-7]
ENST00000490743; ENSP00000476353; ENSG00000125459 [Q9BUK6-4]
GeneIDi55154
KEGGihsa:55154
UCSCiuc001fky.5 human [Q9BUK6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55154
DisGeNETi55154
EuPathDBiHostDB:ENSG00000125459.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		MSTO1
HGNCiHGNC:29678 MSTO1
HPAiENSG00000125459 Low tissue specificity
MalaCardsiMSTO1
MIMi617619 gene
617675 phenotype
neXtProtiNX_Q9BUK6
Orphaneti502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
PharmGKBiPA142671313

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2530 Eukaryota
ENOG410XPM0 LUCA
GeneTreeiENSGT00530000064067
HOGENOMiCLU_184878_0_0_1
InParanoidiQ9BUK6
OMAiLQLYYQC
OrthoDBi1321917at2759
PhylomeDBiQ9BUK6
TreeFamiTF323669

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55154 421 hits in 782 CRISPR screens

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

More...ChiTaRSi		MSTO1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MSTO1

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

More...GenomeRNAii		55154
PharosiQ9BUK6 Tbio

Protein Ontology

More...PROi		PR:Q9BUK6
RNActiQ9BUK6 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125459 Expressed in left testis and 87 other tissues
ExpressionAtlasiQ9BUK6 baseline and differential
GenevisibleiQ9BUK6 HS

Family and domain databases

InterProiView protein in InterPro
IPR029209 DML1/Misato_tubulin
IPR019605 Misato_II_tubulin-like
IPR036525 Tubulin/FtsZ_GTPase_sf
PfamiView protein in Pfam
PF10644 Misat_Tub_SegII, 1 hit
PF14881 Tubulin_3, 1 hit
SUPFAMiSSF52490 SSF52490, 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 nameiMSTO1_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: Q9BUK6
Secondary accession number(s): Q53GR8
, Q5CZ69, Q5T717, Q68CT6, Q7LBZ8, Q7Z3M7, Q7Z558, Q8TE05, Q9NQX2, Q9NVU4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: June 1, 2001
Last modified: June 17, 2020
This is version 154 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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