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Q9Y2Z2

- MTO1_HUMAN

UniProt

Q9Y2Z2 - MTO1_HUMAN

Protein

Protein MTO1 homolog, mitochondrial

Gene

MTO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (15 May 2002)
      Previous versions | rss
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    Functioni

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

    Cofactori

    FAD.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi43 – 486FADBy similarity

    GO - Molecular functioni

    1. flavin adenine dinucleotide binding Source: InterPro
    2. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. mitochondrial tRNA wobble uridine modification Source: Ensembl
    2. oxidation-reduction process Source: InterPro

    Keywords - Biological processi

    tRNA processing

    Keywords - Ligandi

    FAD, Flavoprotein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein MTO1 homolog, mitochondrial
    Gene namesi
    Name:MTO1
    ORF Names:CGI-02
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:19261. MTO1.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti453 – 4531A → T in COXPD10. 1 Publication
    VAR_068693

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi614702. phenotype.
    Orphaneti314637. Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency.
    PharmGKBiPA134974199.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2525MitochondrionSequence AnalysisAdd
    BLAST
    Chaini26 – 717692Protein MTO1 homolog, mitochondrialPRO_0000042688Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2Z2.
    PaxDbiQ9Y2Z2.
    PRIDEiQ9Y2Z2.

    PTM databases

    PhosphoSiteiQ9Y2Z2.

    Expressioni

    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

    ArrayExpressiQ9Y2Z2.
    BgeeiQ9Y2Z2.
    CleanExiHS_MTO1.
    GenevestigatoriQ9Y2Z2.

    Organism-specific databases

    HPAiHPA030230.
    HPA030232.

    Interactioni

    Protein-protein interaction databases

    BioGridi117349. 3 interactions.
    IntActiQ9Y2Z2. 3 interactions.
    MINTiMINT-3085164.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2Z2.
    SMRiQ9Y2Z2. Positions 37-686.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MnmG family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0445.
    HOVERGENiHBG031719.
    InParanoidiQ9Y2Z2.
    KOiK03495.
    OMAiNPQIECG.
    OrthoDBiEOG72VH5J.
    PhylomeDBiQ9Y2Z2.
    TreeFamiTF354240.

    Family and domain databases

    InterProiIPR013027. FAD_pyr_nucl-diS_OxRdtase.
    IPR026904. GidA-assoc_3.
    IPR002218. GIDA-rel.
    IPR020595. GIDA-rel_CS.
    [Graphical view]
    PfamiPF01134. GIDA. 1 hit.
    PF13932. GIDA_assoc_3. 1 hit.
    [Graphical view]
    PRINTSiPR00368. FADPNR.
    PROSITEiPS01280. GIDA_1. 1 hit.
    PS01281. GIDA_2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q9Y2Z2-1) [UniParc]FASTAAdd to Basket

    Also known as: 4

    This isoform has been chosen as the 'canonical' 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

    MFYFRGCGRW VAVSFTKQQF PLARLSSDSA APRTPHFDVI VIGGGHAGTE    50
    AATAAARCGS RTLLLTHRVD TIGQMSCNPS FGGIGKGHLM REVDALDGLC 100
    SRICDQSGVH YKVLNRRKGP AVWGLRAQID RKLYKQNMQK EILNTPLLTV 150
    QEGAVEDLIL TEPEPEHTGK CRVSGVVLVD GSTVYAESVI LTTGTFLRGM 200
    IVIGLETHPA GRLGDQPSIG LAQTLEKLGF VVGRLKTGTP PRIAKESINF 250
    SILNKHIPDN PSIPFSFTNE TVWIKPEDQL PCYLTHTNPR VDEIVLKNLH 300
    LNSHVKETTR GPRYCPSIES KVLRFPNRLH QVWLEPEGMD SDLIYPQGLS 350
    MTLPAELQEK MITCIRGLEK AKVIQPDGVL LLLPRMECNG AISAHHNLPL 400
    PGYGVQYDYL DPRQITPSLE THLVQRLFFA GQINGTTGYE EAAAQGVIAG 450
    INASLRVSRK PPFVVSRTEG YIGVLIDDLT TLGTSEPYRM FTSRVEFRLS 500
    LRPDNADSRL TLRGYKDAGC VSQQRYERAC WMKSSLEEGI SVLKSIEFLS 550
    SKWKKLIPEA SISTSRSLPV RALDVLKYEE VDMDSLAKAV PEPLKKYTKC 600
    RELAERLKIE ATYESVLFHQ LQEIKGVQQD EALQLPKDLD YLTIRDVSLS 650
    HEVREKLHFS RPQTIGAASR IPGVTPAAII NLLRFVKTTQ RRQSAMNESS 700
    KTDQYLCDAD RLQEREL 717
    Length:717
    Mass (Da):79,964
    Last modified:May 15, 2002 - v2
    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.

    Note: No experimental confirmation available.

    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

    Sequence cautioni

    The sequence AAD27712.1 differs from that shown. Reason: Frameshift at position 9.
    The sequence AAH05808.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti300 – 3001H → Q in AAL82394. (PubMed:12011058)Curated
    Sequence conflicti300 – 3001H → Q in AAL82395. (PubMed:12011058)Curated
    Sequence conflicti300 – 3001H → Q in AAD27712. (PubMed:10810093)Curated
    Sequence conflicti586 – 5872LA → CT in AAL35894. (PubMed:12011058)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti453 – 4531A → T in COXPD10. 1 Publication
    VAR_068693

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7474Missing in isoform 6. 1 PublicationVSP_001748Add
    BLAST
    Alternative sequencei179 – 27597Missing in isoform 1. 1 PublicationVSP_001749Add
    BLAST
    Alternative sequencei314 – 717404Missing in isoform 2. 1 PublicationVSP_001750Add
    BLAST
    Alternative sequencei376 – 40025Missing in isoform 7. 1 PublicationVSP_040985Add
    BLAST
    Alternative sequencei377 – 40125Missing in isoform 1 and isoform 5. 5 PublicationsVSP_001751Add
    BLAST
    Alternative sequencei444 – 4441A → AQTECCSVARLECSDMISQL QAILLPQPSLVAGTAGMHHN T in isoform 7. 1 PublicationVSP_040986

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI14880.1.
    AL603910 Genomic DNA. Translation: CAI14881.1.
    AL603910 Genomic DNA. Translation: CAI14882.1.
    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]
    UniGeneiHs.347614.

    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.4. human. [Q9Y2Z2-1]
    uc003pgz.4. human. [Q9Y2Z2-4]
    uc003pha.4. human. [Q9Y2Z2-2]
    uc010kav.3. human. [Q9Y2Z2-6]

    Polymorphism databases

    DMDMi20981712.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI14880.1 .
    AL603910 Genomic DNA. Translation: CAI14881.1 .
    AL603910 Genomic DNA. Translation: CAI14882.1 .
    CH471051 Genomic DNA. Translation: EAW48762.1 .
    BC005808 mRNA. Translation: AAH05808.2 . Different initiation.
    BC011051 mRNA. Translation: AAH11051.2 .
    AL833823 mRNA. Translation: CAD38685.1 .
    CCDSi CCDS34485.1. [Q9Y2Z2-4 ]
    CCDS47452.1. [Q9Y2Z2-6 ]
    CCDS4979.1. [Q9Y2Z2-1 ]
    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 ]
    UniGenei Hs.347614.

    3D structure databases

    ProteinModelPortali Q9Y2Z2.
    SMRi Q9Y2Z2. Positions 37-686.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117349. 3 interactions.
    IntActi Q9Y2Z2. 3 interactions.
    MINTi MINT-3085164.

    PTM databases

    PhosphoSitei Q9Y2Z2.

    Polymorphism databases

    DMDMi 20981712.

    Proteomic databases

    MaxQBi Q9Y2Z2.
    PaxDbi Q9Y2Z2.
    PRIDEi Q9Y2Z2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370300 ; ENSP00000359323 ; ENSG00000135297 . [Q9Y2Z2-1 ]
    ENST00000370305 ; ENSP00000359328 ; ENSG00000135297 . [Q9Y2Z2-5 ]
    ENST00000415954 ; ENSP00000402038 ; ENSG00000135297 . [Q9Y2Z2-6 ]
    ENST00000498286 ; ENSP00000419561 ; ENSG00000135297 . [Q9Y2Z2-4 ]
    GeneIDi 25821.
    KEGGi hsa:25821.
    UCSCi uc003pgy.4. human. [Q9Y2Z2-1 ]
    uc003pgz.4. human. [Q9Y2Z2-4 ]
    uc003pha.4. human. [Q9Y2Z2-2 ]
    uc010kav.3. human. [Q9Y2Z2-6 ]

    Organism-specific databases

    CTDi 25821.
    GeneCardsi GC06P074171.
    HGNCi HGNC:19261. MTO1.
    HPAi HPA030230.
    HPA030232.
    MIMi 614667. gene.
    614702. phenotype.
    neXtProti NX_Q9Y2Z2.
    Orphaneti 314637. Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency.
    PharmGKBi PA134974199.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0445.
    HOVERGENi HBG031719.
    InParanoidi Q9Y2Z2.
    KOi K03495.
    OMAi NPQIECG.
    OrthoDBi EOG72VH5J.
    PhylomeDBi Q9Y2Z2.
    TreeFami TF354240.

    Miscellaneous databases

    ChiTaRSi MTO1. human.
    GeneWikii MTO1.
    GenomeRNAii 25821.
    NextBioi 47075.
    PROi Q9Y2Z2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2Z2.
    Bgeei Q9Y2Z2.
    CleanExi HS_MTO1.
    Genevestigatori Q9Y2Z2.

    Family and domain databases

    InterProi IPR013027. FAD_pyr_nucl-diS_OxRdtase.
    IPR026904. GidA-assoc_3.
    IPR002218. GIDA-rel.
    IPR020595. GIDA-rel_CS.
    [Graphical view ]
    Pfami PF01134. GIDA. 1 hit.
    PF13932. GIDA_assoc_3. 1 hit.
    [Graphical view ]
    PRINTSi PR00368. FADPNR.
    PROSITEi PS01280. GIDA_1. 1 hit.
    PS01281. GIDA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation."
      Li X.M., Li R.H., Lin X., Guan M.-X.
      J. Biol. Chem. 277:27256-27264(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3 AND 5), FUNCTION, TISSUE SPECIFICITY.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
      Tissue: Embryo.
    4. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
      Tissue: Spleen.
    5. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6).
      Tissue: Lymph and Placenta.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-717 (ISOFORM 5).
      Tissue: Uterus.
    9. "Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis."
      Ghezzi D., Baruffini E., Haack T.B., Invernizzi F., Melchionda L., Dallabona C., Strom T.M., Parini R., Burlina A.B., Meitinger T., Prokisch H., Ferrero I., Zeviani M.
      Am. J. Hum. Genet. 90:1079-1087(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT COXPD10 THR-453.

    Entry informationi

    Entry nameiMTO1_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2Z2
    Secondary accession number(s): B3KQB5
    , Q5SWL2, Q5SWL3, Q5SWL4, Q8NDN7, Q8WZ57, Q96FE6, Q9BS06
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 15, 2002
    Last modified: October 1, 2014
    This is version 135 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3