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UniProtKB - Q9Y2Z2 (MTO1_HUMAN)

Entry version 185 (23 Feb 2022)
Sequence version 2 (15 May 2002)
Previous versions | rss
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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

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

Biological processtRNA processing
LigandFAD, Flavoprotein

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y2Z2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6787450, tRNA modification in the mitochondrion

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9Y2Z2

<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 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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19261, MTO1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614667, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y2Z2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000135297

<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

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 variants 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 variant, 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

Genetic variation 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

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y2Z2

PeptideAtlas

More...PeptideAtlasi		Q9Y2Z2

PRoteomics IDEntifications database

More...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 233 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, 73 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y2Z2, 25 interactors

Molecular INTeraction database

More...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

More...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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2311, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011297

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007831_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y2Z2

Identification of Orthologs from Complete Genome Data

More...OMAi		FRPGYAI

Database of Orthologous Groups

More...OrthoDBi		1437708at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y2Z2

TreeFam database of animal gene trees

More...TreeFami		TF354240

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.150.570, 1 hit
3.50.50.60, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036188, FAD/NAD-bd_sf
IPR004416, MnmG
IPR002218, MnmG-rel
IPR020595, MnmG-rel_CS
IPR026904, MnmG_C
IPR044920, MnmG_C_subdom
IPR040131, MnmG_N

The PANTHER Classification System

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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01134, GIDA, 1 hit
PF13932, GIDA_C, 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.<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 31 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 <p><strong>What is the canonical sequence?</strong><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 31 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YB81H0YB81_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
515Annotation 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>
H0YBI9H0YBI9_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
565Annotation 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>
A0A7P0T9S8A0A7P0T9S8_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
589Annotation 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>
A0A7P0Z4R0A0A7P0Z4R0_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1 hCG_22900
618Annotation 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>
A0A7P0T9I0A0A7P0T9I0_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
603Annotation 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>
A0A7P0TA27A0A7P0TA27_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
438Annotation 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>
A0A7P0TB86A0A7P0TB86_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
598Annotation 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>
A0A7P0Z471A0A7P0Z471_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
427Annotation 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>
A0A7P0T957A0A7P0T957_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
432Annotation 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>
A0A7P0T9Q8A0A7P0T9Q8_HUMAN
Protein MTO1 homolog, mitochondrial
MTO1
364Annotation 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>
There are more potential isoformsShow all

<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

NCBI Reference Sequences

More...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

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		25821

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:25821

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000498286.6; ENSP00000419561.2; NM_012123.4; NP_036255.2 [Q9Y2Z2-4]

UCSC genome browser

More...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, 73 interactors
IntActiQ9Y2Z2, 25 interactors
MINTiQ9Y2Z2
STRINGi9606.ENSP00000402038

PTM databases

iPTMnetiQ9Y2Z2
PhosphoSitePlusiQ9Y2Z2

Genetic variation databases

BioMutaiMTO1
DMDMi20981712

Proteomic databases

jPOSTiQ9Y2Z2
MassIVEiQ9Y2Z2
MaxQBiQ9Y2Z2
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

More...Antibodypediai		31347, 97 antibodies from 24 providers

The DNASU plasmid repository

More...DNASUi		25821

Genome annotation databases

EnsembliENST00000370300; ENSP00000359323; ENSG00000135297
ENST00000370305; ENSP00000359328; ENSG00000135297 [Q9Y2Z2-5]
ENST00000415954; ENSP00000402038; ENSG00000135297 [Q9Y2Z2-6]
ENST00000498286; ENSP00000419561; ENSG00000135297 [Q9Y2Z2-4]
GeneIDi25821
KEGGihsa:25821
MANE-SelectiENST00000498286.6; ENSP00000419561.2; NM_012123.4; NP_036255.2 [Q9Y2Z2-4]
UCSCiuc003pgy.5, human [Q9Y2Z2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		25821
DisGeNETi25821

GeneCards: human genes, protein and diseases

More...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
VEuPathDBiHostDB:ENSG00000135297

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2311, Eukaryota
GeneTreeiENSGT00390000011297
HOGENOMiCLU_007831_2_2_1
InParanoidiQ9Y2Z2
OMAiFRPGYAI
OrthoDBi1437708at2759
PhylomeDBiQ9Y2Z2
TreeFamiTF354240

Enzyme and pathway databases

PathwayCommonsiQ9Y2Z2
ReactomeiR-HSA-6787450, tRNA modification in the mitochondrion
SignaLinkiQ9Y2Z2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		25821, 86 hits in 1048 CRISPR screens

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

More...ChiTaRSi		MTO1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MTO1

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

More...GenomeRNAii		25821
PharosiQ9Y2Z2, Tbio

Protein Ontology

More...PROi		PR:Q9Y2Z2
RNActiQ9Y2Z2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135297, Expressed in testis and 233 other tissues
ExpressionAtlasiQ9Y2Z2, baseline and differential
GenevisibleiQ9Y2Z2, HS

Family and domain databases

Gene3Di1.10.150.570, 1 hit
3.50.50.60, 2 hits
InterProiView protein in InterPro
IPR036188, FAD/NAD-bd_sf
IPR004416, MnmG
IPR002218, MnmG-rel
IPR020595, MnmG-rel_CS
IPR026904, MnmG_C
IPR044920, MnmG_C_subdom
IPR040131, MnmG_N
PANTHERiPTHR11806, PTHR11806, 1 hit
PTHR11806:SF0, PTHR11806:SF0, 1 hit
PfamiView protein in Pfam
PF01134, GIDA, 1 hit
PF13932, GIDA_C, 1 hit
SUPFAMiSSF51905, SSF51905, 1 hit
PROSITEiView protein in PROSITE
PS01280, GIDA_1, 1 hit
PS01281, GIDA_2, 1 hit

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: February 23, 2022
This is version 185 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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