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Entry version 176 (22 Apr 2020)
Sequence version 2 (15 May 2002)
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Protein

Protein MTO1 homolog, mitochondrial

Gene

MTO1

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 5-carboxymethylaminomethyl modification (mnm5s2U34) of the wobble uridine base in mitochondrial tRNAs.1 Publication

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FADBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi43 – 48FADBy similarity6

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

GO - Biological processi

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

Biological processtRNA processing
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000135297-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6787450 tRNA modification in the mitochondrion

<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 MTO1 homolog, mitochondrial
<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:MTO1
ORF Names:CGI-02
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19261 MTO1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614667 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y2Z2

<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

Mitochondrion

<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

Combined oxidative phosphorylation deficiency 10 (COXPD10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.
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_068693453A → T in COXPD10. 1 PublicationCorresponds to variant dbSNP:rs143747297Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
25821

MalaCards human disease database

More...
MalaCardsi
MTO1
MIMi614702 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135297

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

More...
Orphaneti
314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134974199

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2Z2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MTO1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20981712

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 25MitochondrionSequence analysisAdd BLAST25
<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_000004268826 – 717Protein MTO1 homolog, mitochondrialAdd BLAST692

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 residuei533N6-methyllysineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y2Z2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y2Z2

PeptideAtlas

More...
PeptideAtlasi
Q9Y2Z2

PRoteomics IDEntifications database

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PRIDEi
Q9Y2Z2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85942 [Q9Y2Z2-1]
85943 [Q9Y2Z2-2]
85944 [Q9Y2Z2-3]
85945 [Q9Y2Z2-4]
85946 [Q9Y2Z2-5]
85947 [Q9Y2Z2-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y2Z2

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

More...
PhosphoSitePlusi
Q9Y2Z2

<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

Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135297 Expressed in testis and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y2Z2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y2Z2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000135297 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117349, 24 interactors

Protein interaction database and analysis system

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IntActi
Q9Y2Z2, 25 interactors

Molecular INTeraction database

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MINTi
Q9Y2Z2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000402038

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y2Z2 protein

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

3D structure databases

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

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SMRi
Q9Y2Z2

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

<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 MnmG family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011297

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_007831_2_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y2Z2

KEGG Orthology (KO)

More...
KOi
K03495

Identification of Orthologs from Complete Genome Data

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OMAi
FRPGYAI

Database of Orthologous Groups

More...
OrthoDBi
1437708at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y2Z2

TreeFam database of animal gene trees

More...
TreeFami
TF354240

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.50.50.60, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR026904 GidA-assoc_3
IPR004416 MnmG
IPR002218 MnmG-rel
IPR020595 MnmG-rel_CS

The PANTHER Classification System

More...
PANTHERi
PTHR11806 PTHR11806, 1 hit
PTHR11806:SF0 PTHR11806:SF0, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13932 GIDA_assoc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51905 SSF51905, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01280 GIDA_1, 1 hit
PS01281 GIDA_2, 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 (6+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. 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 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q9Y2Z2-1) [UniParc]FASTAAdd to basket
Also known as: 4

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
MFYFRGCGRW VAVSFTKQQF PLARLSSDSA APRTPHFDVI VIGGGHAGTE
60 70 80 90 100
AATAAARCGS RTLLLTHRVD TIGQMSCNPS FGGIGKGHLM REVDALDGLC
110 120 130 140 150
SRICDQSGVH YKVLNRRKGP AVWGLRAQID RKLYKQNMQK EILNTPLLTV
160 170 180 190 200
QEGAVEDLIL TEPEPEHTGK CRVSGVVLVD GSTVYAESVI LTTGTFLRGM
210 220 230 240 250
IVIGLETHPA GRLGDQPSIG LAQTLEKLGF VVGRLKTGTP PRIAKESINF
260 270 280 290 300
SILNKHIPDN PSIPFSFTNE TVWIKPEDQL PCYLTHTNPR VDEIVLKNLH
310 320 330 340 350
LNSHVKETTR GPRYCPSIES KVLRFPNRLH QVWLEPEGMD SDLIYPQGLS
360 370 380 390 400
MTLPAELQEK MITCIRGLEK AKVIQPDGVL LLLPRMECNG AISAHHNLPL
410 420 430 440 450
PGYGVQYDYL DPRQITPSLE THLVQRLFFA GQINGTTGYE EAAAQGVIAG
460 470 480 490 500
INASLRVSRK PPFVVSRTEG YIGVLIDDLT TLGTSEPYRM FTSRVEFRLS
510 520 530 540 550
LRPDNADSRL TLRGYKDAGC VSQQRYERAC WMKSSLEEGI SVLKSIEFLS
560 570 580 590 600
SKWKKLIPEA SISTSRSLPV RALDVLKYEE VDMDSLAKAV PEPLKKYTKC
610 620 630 640 650
RELAERLKIE ATYESVLFHQ LQEIKGVQQD EALQLPKDLD YLTIRDVSLS
660 670 680 690 700
HEVREKLHFS RPQTIGAASR IPGVTPAAII NLLRFVKTTQ RRQSAMNESS
710
KTDQYLCDAD RLQEREL
Length:717
Mass (Da):79,964
Last modified:May 15, 2002 - 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:i78F84D8833BC0ED3
GO
Isoform 1 (identifier: Q9Y2Z2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     179-275: Missing.
     377-401: Missing.

Show »
Length:595
Mass (Da):66,842
Checksum:i922A9C32D205DED0
GO
Isoform 2 (identifier: Q9Y2Z2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     314-717: Missing.

Show »
Length:313
Mass (Da):34,295
Checksum:iFF395ED6D3849053
GO
Isoform 5 (identifier: Q9Y2Z2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     377-401: Missing.

Show »
Length:692
Mass (Da):77,301
Checksum:i7C5FCDF76033E6DB
GO
Isoform 6 (identifier: Q9Y2Z2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.

Show »
Length:643
Mass (Da):72,047
Checksum:i415907FB950D47D5
GO
Isoform 7 (identifier: Q9Y2Z2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-400: Missing.
     444-444: A → AQTECCSVARLECSDMISQLQAILLPQPSLVAGTAGMHHNT

Show »
Length:732
Mass (Da):81,538
Checksum:iC5EF598F0D83875A
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWI1E7EWI1_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
192Annotation 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>
H0YB81H0YB81_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
144Annotation 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>
H0YBI9H0YBI9_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFF7E5RFF7_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
95Annotation 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>
H0YC00H0YC00_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
86Annotation 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>
E9PHR8E9PHR8_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
118Annotation 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>
H7C2S9H7C2S9_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
98Annotation 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>
E7EWX0E7EWX0_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
110Annotation 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 AAD27712 differs from that shown. Reason: Frameshift.Curated
The sequence AAH05808 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti300H → Q in AAL82394 (PubMed:12011058).Curated1
Sequence conflicti300H → Q in AAL82395 (PubMed:12011058).Curated1
Sequence conflicti300H → Q in AAD27712 (PubMed:10810093).Curated1
Sequence conflicti586 – 587LA → CT in AAL35894 (PubMed:12011058).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068693453A → T in COXPD10. 1 PublicationCorresponds to variant dbSNP:rs143747297Ensembl.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_0017481 – 74Missing in isoform 6. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_001749179 – 275Missing in isoform 1. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_001750314 – 717Missing in isoform 2. 1 PublicationAdd BLAST404
Alternative sequenceiVSP_040985376 – 400Missing in isoform 7. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_001751377 – 401Missing in isoform 1 and isoform 5. 5 PublicationsAdd BLAST25
Alternative sequenceiVSP_040986444A → AQTECCSVARLECSDMISQL QAILLPQPSLVAGTAGMHHN T in isoform 7. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF469110 mRNA Translation: AAL82394.1
AF469111 mRNA Translation: AAL82395.1
AF442963 Genomic DNA Translation: AAL35894.1
AF319422 mRNA Translation: AAG42814.3
AY078986 mRNA Translation: AAL85491.1
AY078985 mRNA Translation: AAL85490.1
AF132937 mRNA Translation: AAD27712.1 Frameshift.
AK074625 mRNA Translation: BAG51977.1
AK225828 mRNA No translation available.
AL603910 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48762.1
BC005808 mRNA Translation: AAH05808.2 Different initiation.
BC011051 mRNA Translation: AAH11051.2
AL833823 mRNA Translation: CAD38685.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34485.1 [Q9Y2Z2-4]
CCDS47452.1 [Q9Y2Z2-6]
CCDS4979.1 [Q9Y2Z2-1]

NCBI Reference Sequences

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RefSeqi
NP_001116698.1, NM_001123226.1 [Q9Y2Z2-6]
NP_036255.2, NM_012123.3 [Q9Y2Z2-4]
NP_598400.1, NM_133645.2 [Q9Y2Z2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000370300; ENSP00000359323; ENSG00000135297 [Q9Y2Z2-1]
ENST00000370305; ENSP00000359328; ENSG00000135297 [Q9Y2Z2-5]
ENST00000415954; ENSP00000402038; ENSG00000135297 [Q9Y2Z2-6]
ENST00000498286; ENSP00000419561; ENSG00000135297 [Q9Y2Z2-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
25821

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:25821

UCSC genome browser

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UCSCi
uc003pgy.5 human [Q9Y2Z2-1]

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
AF469110 mRNA Translation: AAL82394.1
AF469111 mRNA Translation: AAL82395.1
AF442963 Genomic DNA Translation: AAL35894.1
AF319422 mRNA Translation: AAG42814.3
AY078986 mRNA Translation: AAL85491.1
AY078985 mRNA Translation: AAL85490.1
AF132937 mRNA Translation: AAD27712.1 Frameshift.
AK074625 mRNA Translation: BAG51977.1
AK225828 mRNA No translation available.
AL603910 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48762.1
BC005808 mRNA Translation: AAH05808.2 Different initiation.
BC011051 mRNA Translation: AAH11051.2
AL833823 mRNA Translation: CAD38685.1
CCDSiCCDS34485.1 [Q9Y2Z2-4]
CCDS47452.1 [Q9Y2Z2-6]
CCDS4979.1 [Q9Y2Z2-1]
RefSeqiNP_001116698.1, NM_001123226.1 [Q9Y2Z2-6]
NP_036255.2, NM_012123.3 [Q9Y2Z2-4]
NP_598400.1, NM_133645.2 [Q9Y2Z2-1]

3D structure databases

SMRiQ9Y2Z2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117349, 24 interactors
IntActiQ9Y2Z2, 25 interactors
MINTiQ9Y2Z2
STRINGi9606.ENSP00000402038

PTM databases

iPTMnetiQ9Y2Z2
PhosphoSitePlusiQ9Y2Z2

Polymorphism and mutation databases

BioMutaiMTO1
DMDMi20981712

Proteomic databases

jPOSTiQ9Y2Z2
MassIVEiQ9Y2Z2
PeptideAtlasiQ9Y2Z2
PRIDEiQ9Y2Z2
ProteomicsDBi85942 [Q9Y2Z2-1]
85943 [Q9Y2Z2-2]
85944 [Q9Y2Z2-3]
85945 [Q9Y2Z2-4]
85946 [Q9Y2Z2-5]
85947 [Q9Y2Z2-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31347 87 antibodies

Genome annotation databases

EnsembliENST00000370300; ENSP00000359323; ENSG00000135297 [Q9Y2Z2-1]
ENST00000370305; ENSP00000359328; ENSG00000135297 [Q9Y2Z2-5]
ENST00000415954; ENSP00000402038; ENSG00000135297 [Q9Y2Z2-6]
ENST00000498286; ENSP00000419561; ENSG00000135297 [Q9Y2Z2-4]
GeneIDi25821
KEGGihsa:25821
UCSCiuc003pgy.5 human [Q9Y2Z2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
25821
DisGeNETi25821

GeneCards: human genes, protein and diseases

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GeneCardsi
MTO1
HGNCiHGNC:19261 MTO1
HPAiENSG00000135297 Low tissue specificity
MalaCardsiMTO1
MIMi614667 gene
614702 phenotype
neXtProtiNX_Q9Y2Z2
OpenTargetsiENSG00000135297
Orphaneti314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
PharmGKBiPA134974199

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000011297
HOGENOMiCLU_007831_2_2_1
InParanoidiQ9Y2Z2
KOiK03495
OMAiFRPGYAI
OrthoDBi1437708at2759
PhylomeDBiQ9Y2Z2
TreeFamiTF354240

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000135297-MONOMER
ReactomeiR-HSA-6787450 tRNA modification in the mitochondrion

Miscellaneous databases

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

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ChiTaRSi
MTO1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MTO1

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

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GenomeRNAii
25821
PharosiQ9Y2Z2 Tbio

Protein Ontology

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PROi
PR:Q9Y2Z2
RNActiQ9Y2Z2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135297 Expressed in testis and 221 other tissues
ExpressionAtlasiQ9Y2Z2 baseline and differential
GenevisibleiQ9Y2Z2 HS

Family and domain databases

Gene3Di3.50.50.60, 2 hits
InterProiView protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR026904 GidA-assoc_3
IPR004416 MnmG
IPR002218 MnmG-rel
IPR020595 MnmG-rel_CS
PANTHERiPTHR11806 PTHR11806, 1 hit
PTHR11806:SF0 PTHR11806:SF0, 1 hit
PfamiView protein in Pfam
PF13932 GIDA_assoc, 1 hit
SUPFAMiSSF51905 SSF51905, 1 hit
PROSITEiView protein in PROSITE
PS01280 GIDA_1, 1 hit
PS01281 GIDA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiMTO1_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: Q9Y2Z2
Secondary accession number(s): B3KQB5
, Q5SWL2, Q5SWL3, Q5SWL4, Q8NDN7, Q8WZ57, Q96FE6, Q9BS06
<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: May 30, 2000
Last sequence update: May 15, 2002
Last modified: April 22, 2020
This is version 176 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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