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Q9Y2Z2 (MTO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein MTO1 homolog, mitochondrial
Gene names
Name:MTO1
ORF Names:CGI-02
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length717 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Cofactor

FAD By similarity.

Subcellular location

Mitochondrion By similarity.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the MnmG family.

Sequence caution

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.

Ontologies

Keywords
   Biological processtRNA processing
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
   DiseaseCardiomyopathy
Disease mutation
   DomainTransit peptide
   LigandFAD
Flavoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmitochondrial tRNA wobble uridine modification

Inferred from electronic annotation. Source: Ensembl

oxidation-reduction process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionflavin adenine dinucleotide binding

Inferred from electronic annotation. Source: InterPro

poly(A) RNA binding

Inferred from direct assay PubMed 22681889. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q9Y2Z2-1)

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.
Isoform 1 (identifier: Q9Y2Z2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     179-275: Missing.
     377-401: Missing.
Isoform 2 (identifier: Q9Y2Z2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     314-717: Missing.
Isoform 5 (identifier: Q9Y2Z2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     377-401: Missing.
Isoform 6 (identifier: Q9Y2Z2-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.
Note: No experimental confirmation available.
Isoform 7 (identifier: Q9Y2Z2-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2525Mitochondrion Potential
Chain26 – 717692Protein MTO1 homolog, mitochondrial
PRO_0000042688

Regions

Nucleotide binding43 – 486FAD By similarity

Natural variations

Alternative sequence1 – 7474Missing in isoform 6.
VSP_001748
Alternative sequence179 – 27597Missing in isoform 1.
VSP_001749
Alternative sequence314 – 717404Missing in isoform 2.
VSP_001750
Alternative sequence376 – 40025Missing in isoform 7.
VSP_040985
Alternative sequence377 – 40125Missing in isoform 1 and isoform 5.
VSP_001751
Alternative sequence4441A → AQTECCSVARLECSDMISQL QAILLPQPSLVAGTAGMHHN T in isoform 7.
VSP_040986
Natural variant4531A → T in COXPD10. Ref.9
VAR_068693

Experimental info

Sequence conflict3001H → Q in AAL82394. Ref.1
Sequence conflict3001H → Q in AAL82395. Ref.1
Sequence conflict3001H → Q in AAD27712. Ref.2
Sequence conflict586 – 5872LA → CT in AAL35894. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 (4) [UniParc].

Last modified May 15, 2002. Version 2.
Checksum: 78F84D8833BC0ED3

FASTA71779,964
        10         20         30         40         50         60 
MFYFRGCGRW VAVSFTKQQF PLARLSSDSA APRTPHFDVI VIGGGHAGTE AATAAARCGS 

        70         80         90        100        110        120 
RTLLLTHRVD TIGQMSCNPS FGGIGKGHLM REVDALDGLC SRICDQSGVH YKVLNRRKGP 

       130        140        150        160        170        180 
AVWGLRAQID RKLYKQNMQK EILNTPLLTV QEGAVEDLIL TEPEPEHTGK CRVSGVVLVD 

       190        200        210        220        230        240 
GSTVYAESVI LTTGTFLRGM IVIGLETHPA GRLGDQPSIG LAQTLEKLGF VVGRLKTGTP 

       250        260        270        280        290        300 
PRIAKESINF SILNKHIPDN PSIPFSFTNE TVWIKPEDQL PCYLTHTNPR VDEIVLKNLH 

       310        320        330        340        350        360 
LNSHVKETTR GPRYCPSIES KVLRFPNRLH QVWLEPEGMD SDLIYPQGLS MTLPAELQEK 

       370        380        390        400        410        420 
MITCIRGLEK AKVIQPDGVL LLLPRMECNG AISAHHNLPL PGYGVQYDYL DPRQITPSLE 

       430        440        450        460        470        480 
THLVQRLFFA GQINGTTGYE EAAAQGVIAG INASLRVSRK PPFVVSRTEG YIGVLIDDLT 

       490        500        510        520        530        540 
TLGTSEPYRM FTSRVEFRLS LRPDNADSRL TLRGYKDAGC VSQQRYERAC WMKSSLEEGI 

       550        560        570        580        590        600 
SVLKSIEFLS SKWKKLIPEA SISTSRSLPV RALDVLKYEE VDMDSLAKAV PEPLKKYTKC 

       610        620        630        640        650        660 
RELAERLKIE ATYESVLFHQ LQEIKGVQQD EALQLPKDLD YLTIRDVSLS HEVREKLHFS 

       670        680        690        700        710 
RPQTIGAASR IPGVTPAAII NLLRFVKTTQ RRQSAMNESS KTDQYLCDAD RLQEREL 

« Hide

Isoform 1 [UniParc].

Checksum: 922A9C32D205DED0
Show »

FASTA59566,842
Isoform 2 [UniParc].

Checksum: FF395ED6D3849053
Show »

FASTA31334,295
Isoform 5 [UniParc].

Checksum: 7C5FCDF76033E6DB
Show »

FASTA69277,301
Isoform 6 [UniParc].

Checksum: 415907FB950D47D5
Show »

FASTA64372,047
Isoform 7 [UniParc].

Checksum: C5EF598F0D83875A
Show »

FASTA73281,538

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001116698.1. NM_001123226.1.
NP_036255.2. NM_012123.3.
NP_598400.1. NM_133645.2.
UniGeneHs.347614.

3D structure databases

ProteinModelPortalQ9Y2Z2.
SMRQ9Y2Z2. Positions 6-686.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117349. 3 interactions.
IntActQ9Y2Z2. 3 interactions.
MINTMINT-3085164.

PTM databases

PhosphoSiteQ9Y2Z2.

Polymorphism databases

DMDM20981712.

Proteomic databases

PaxDbQ9Y2Z2.
PRIDEQ9Y2Z2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370300; ENSP00000359323; ENSG00000135297. [Q9Y2Z2-1]
ENST00000370305; ENSP00000359328; ENSG00000135297. [Q9Y2Z2-5]
ENST00000415954; ENSP00000402038; ENSG00000135297. [Q9Y2Z2-6]
ENST00000498286; ENSP00000419561; ENSG00000135297. [Q9Y2Z2-4]
GeneID25821.
KEGGhsa:25821.
UCSCuc003pgy.4. human. [Q9Y2Z2-1]
uc003pgz.4. human. [Q9Y2Z2-4]
uc003pha.4. human. [Q9Y2Z2-2]
uc010kav.3. human. [Q9Y2Z2-6]

Organism-specific databases

CTD25821.
GeneCardsGC06P074171.
HGNCHGNC:19261. MTO1.
HPAHPA030230.
HPA030232.
MIM614667. gene.
614702. phenotype.
neXtProtNX_Q9Y2Z2.
Orphanet314637. Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency.
PharmGKBPA134974199.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0445.
HOVERGENHBG031719.
InParanoidQ9Y2Z2.
KOK03495.
OMAVSGVVLX.
OrthoDBEOG72VH5J.
PhylomeDBQ9Y2Z2.
TreeFamTF354240.

Gene expression databases

ArrayExpressQ9Y2Z2.
BgeeQ9Y2Z2.
CleanExHS_MTO1.
GenevestigatorQ9Y2Z2.

Family and domain databases

InterProIPR013027. FAD_pyr_nucl-diS_OxRdtase.
IPR026904. GidA-assoc_3.
IPR002218. GIDA-rel.
IPR020595. GIDA-rel_CS.
[Graphical view]
PfamPF01134. GIDA. 1 hit.
PF13932. GIDA_assoc_3. 1 hit.
[Graphical view]
PRINTSPR00368. FADPNR.
PROSITEPS01280. GIDA_1. 1 hit.
PS01281. GIDA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMTO1. human.
GeneWikiMTO1.
GenomeRNAi25821.
NextBio47075.
PROQ9Y2Z2.
SOURCESearch...

Entry information

Entry nameMTO1_HUMAN
AccessionPrimary (citable) accession number: Q9Y2Z2
Secondary accession number(s): B3KQB5 expand/collapse secondary AC list , Q5SWL2, Q5SWL3, Q5SWL4, Q8NDN7, Q8WZ57, Q96FE6, Q9BS06
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 15, 2002
Last modified: April 16, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM