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Q9Y2Z2

- MTO1_HUMAN

UniProt

Q9Y2Z2 - MTO1_HUMAN

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Protein
Protein MTO1 homolog, mitochondrial
Gene
MTO1, CGI-02
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 486FAD By similarity

GO - Molecular functioni

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

GO - Biological processi

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2525Mitochondrion Reviewed prediction
Add
BLAST
Chaini26 – 717692Protein MTO1 homolog, mitochondrial
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the MnmG family.

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.

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.
VSP_001748Add
BLAST
Alternative sequencei179 – 27597Missing in isoform 1.
VSP_001749Add
BLAST
Alternative sequencei314 – 717404Missing in isoform 2.
VSP_001750Add
BLAST
Alternative sequencei376 – 40025Missing in isoform 7.
VSP_040985Add
BLAST
Alternative sequencei377 – 40125Missing in isoform 1 and isoform 5.
VSP_001751Add
BLAST
Alternative sequencei444 – 4441A → AQTECCSVARLECSDMISQL QAILLPQPSLVAGTAGMHHN T in isoform 7.
VSP_040986

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti300 – 3001H → Q in AAL82394. 1 Publication
Sequence conflicti300 – 3001H → Q in AAL82395. 1 Publication
Sequence conflicti300 – 3001H → Q in AAD27712. 1 Publication
Sequence conflicti586 – 5872LA → CT in AAL35894. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 134 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

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