Q9Y2Z2 (MTO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein MTO1 homolog, mitochondrial

Gene names

Name:	MTO1
ORF Names:	CGI-02

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	717 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	tRNA processing
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Disease	Cardiomyopathy Disease mutation
Domain	Transit peptide
Ligand	FAD Flavoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrial tRNA wobble uridine modification Inferred from electronic annotation. Source: Compara oxidation-reduction process Inferred from electronic annotation. Source: InterPro
Cellular_component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	flavin adenine dinucleotide binding Inferred from electronic annotation. Source: InterPro
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 25	25	Mitochondrion Potential
	Chain	26 – 717	692	Protein MTO1 homolog, mitochondrial		PRO_0000042688
Regions
	Nucleotide binding	43 – 48	6	FAD By similarity
Natural variations
	Alternative sequence	1 – 74	74	Missing in isoform 6.		VSP_001748
	Alternative sequence	179 – 275	97	Missing in isoform 1.		VSP_001749
	Alternative sequence	314 – 717	404	Missing in isoform 2.		VSP_001750
	Alternative sequence	376 – 400	25	Missing in isoform 7.		VSP_040985
	Alternative sequence	377 – 401	25	Missing in isoform 1 and isoform 5.		VSP_001751
	Alternative sequence	444	1	A → AQTECCSVARLECSDMISQL QAILLPQPSLVAGTAGMHHN T in isoform 7.		VSP_040986
	Natural variant	453	1	A → T in COXPD10. Ref.9		VAR_068693
Experimental info
	Sequence conflict	300	1	H → Q in AAL82394. Ref.1
	Sequence conflict	300	1	H → Q in AAL82395. Ref.1
	Sequence conflict	300	1	H → Q in AAD27712. Ref.2
	Sequence conflict	586 – 587	2	LA → CT in AAL35894. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 (4) [UniParc]. Last modified May 15, 2002. Version 2. Checksum: 78F84D8833BC0ED3	FASTA	717	79,964
	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
	Isoform 1 [UniParc]. Checksum: 922A9C32D205DED0	FASTA	595	66,842
	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 CRVSGVVLPE 190 200 210 220 230 240 DQLPCYLTHT NPRVDEIVLK NLHLNSHVKE TTRGPRYCPS IESKVLRFPN RLHQVWLEPE 250 260 270 280 290 300 GMDSDLIYPQ GLSMTLPAEL QEKMITCIRG LEKAKVIQPG YGVQYDYLDP RQITPSLETH 310 320 330 340 350 360 LVQRLFFAGQ INGTTGYEEA AAQGVIAGIN ASLRVSRKPP FVVSRTEGYI GVLIDDLTTL 370 380 390 400 410 420 GTSEPYRMFT SRVEFRLSLR PDNADSRLTL RGYKDAGCVS QQRYERACWM KSSLEEGISV 430 440 450 460 470 480 LKSIEFLSSK WKKLIPEASI STSRSLPVRA LDVLKYEEVD MDSLAKAVPE PLKKYTKCRE 490 500 510 520 530 540 LAERLKIEAT YESVLFHQLQ EIKGVQQDEA LQLPKDLDYL TIRDVSLSHE VREKLHFSRP 550 560 570 580 590 QTIGAASRIP GVTPAAIINL LRFVKTTQRR QSAMNESSKT DQYLCDADRL QEREL
	Isoform 2 [UniParc]. Checksum: FF395ED6D3849053	FASTA	313	34,295
	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 LNSHVKETTR GPR
	Isoform 5 [UniParc]. Checksum: 7C5FCDF76033E6DB	FASTA	692	77,301
	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 AKVIQPGYGV QYDYLDPRQI TPSLETHLVQ RLFFAGQING TTGYEEAAAQ 430 440 450 460 470 480 GVIAGINASL RVSRKPPFVV SRTEGYIGVL IDDLTTLGTS EPYRMFTSRV EFRLSLRPDN 490 500 510 520 530 540 ADSRLTLRGY KDAGCVSQQR YERACWMKSS LEEGISVLKS IEFLSSKWKK LIPEASISTS 550 560 570 580 590 600 RSLPVRALDV LKYEEVDMDS LAKAVPEPLK KYTKCRELAE RLKIEATYES VLFHQLQEIK 610 620 630 640 650 660 GVQQDEALQL PKDLDYLTIR DVSLSHEVRE KLHFSRPQTI GAASRIPGVT PAAIINLLRF 670 680 690 VKTTQRRQSA MNESSKTDQY LCDADRLQER EL
	Isoform 6 [UniParc]. Checksum: 415907FB950D47D5	FASTA	643	72,047
	10 20 30 40 50 60 MSCNPSFGGI GKGHLMREVD ALDGLCSRIC DQSGVHYKVL NRRKGPAVWG LRAQIDRKLY 70 80 90 100 110 120 KQNMQKEILN TPLLTVQEGA VEDLILTEPE PEHTGKCRVS GVVLVDGSTV YAESVILTTG 130 140 150 160 170 180 TFLRGMIVIG LETHPAGRLG DQPSIGLAQT LEKLGFVVGR LKTGTPPRIA KESINFSILN 190 200 210 220 230 240 KHIPDNPSIP FSFTNETVWI KPEDQLPCYL THTNPRVDEI VLKNLHLNSH VKETTRGPRY 250 260 270 280 290 300 CPSIESKVLR FPNRLHQVWL EPEGMDSDLI YPQGLSMTLP AELQEKMITC IRGLEKAKVI 310 320 330 340 350 360 QPDGVLLLLP RMECNGAISA HHNLPLPGYG VQYDYLDPRQ ITPSLETHLV QRLFFAGQIN 370 380 390 400 410 420 GTTGYEEAAA QGVIAGINAS LRVSRKPPFV VSRTEGYIGV LIDDLTTLGT SEPYRMFTSR 430 440 450 460 470 480 VEFRLSLRPD NADSRLTLRG YKDAGCVSQQ RYERACWMKS SLEEGISVLK SIEFLSSKWK 490 500 510 520 530 540 KLIPEASIST SRSLPVRALD VLKYEEVDMD SLAKAVPEPL KKYTKCRELA ERLKIEATYE 550 560 570 580 590 600 SVLFHQLQEI KGVQQDEALQ LPKDLDYLTI RDVSLSHEVR EKLHFSRPQT IGAASRIPGV 610 620 630 640 TPAAIINLLR FVKTTQRRQS AMNESSKTDQ YLCDADRLQE REL
	Isoform 7 [UniParc]. Checksum: C5EF598F0D83875A	FASTA	732	81,538
	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 AKVIQPGYGV QYDYLDPRQI TPSLETHLVQ RLFFAGQING TTGYEEAAAQ 430 440 450 460 470 480 TECCSVARLE CSDMISQLQA ILLPQPSLVA GTAGMHHNTQ GVIAGINASL RVSRKPPFVV 490 500 510 520 530 540 SRTEGYIGVL IDDLTTLGTS EPYRMFTSRV EFRLSLRPDN ADSRLTLRGY KDAGCVSQQR 550 560 570 580 590 600 YERACWMKSS LEEGISVLKS IEFLSSKWKK LIPEASISTS RSLPVRALDV LKYEEVDMDS 610 620 630 640 650 660 LAKAVPEPLK KYTKCRELAE RLKIEATYES VLFHQLQEIK GVQQDEALQL PKDLDYLTIR 670 680 690 700 710 720 DVSLSHEVRE KLHFSRPQTI GAASRIPGVT PAAIINLLRF VKTTQRRQSA MNESSKTDQY 730 LCDADRLQER EL

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.
IPI	IPI00032630. IPI00180380. IPI00215953. IPI00215954. IPI00233661. IPI00890773.
RefSeq	NP_001116698.1. NM_001123226.1. NP_036255.2. NM_012123.3. NP_598400.1. NM_133645.2.
UniGene	Hs.347614.
3D structure databases
ProteinModelPortal	Q9Y2Z2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y2Z2. 1 interaction.
PTM databases
PhosphoSite	Q9Y2Z2.
Polymorphism databases
DMDM	20981712.
Proteomic databases
PaxDb	Q9Y2Z2.
PRIDE	Q9Y2Z2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370300; ENSP00000359323; ENSG00000135297. ENST00000370305; ENSP00000359328; ENSG00000135297. ENST00000415954; ENSP00000402038; ENSG00000135297. ENST00000498286; ENSP00000419561; ENSG00000135297.
GeneID	25821.
KEGG	hsa:25821.
UCSC	uc003pgy.4. human. uc003pgz.4. human. uc003pha.4. human. uc010kav.3. human.
Organism-specific databases
CTD	25821.
GeneCards	GC06P074171.
HGNC	HGNC:19261. MTO1.
HPA	HPA030230. HPA030232.
MIM	614667. gene. 614702. phenotype.
neXtProt	NX_Q9Y2Z2.
PharmGKB	PA134974199.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0445.
HOVERGEN	HBG031719.
InParanoid	Q9Y2Z2.
KO	K03495.
OMA	SRKPPFV.
PhylomeDB	Q9Y2Z2.
Gene expression databases
ArrayExpress	Q9Y2Z2.
Bgee	Q9Y2Z2.
CleanEx	HS_MTO1.
Genevestigator	Q9Y2Z2.
Family and domain databases
InterPro	IPR013027. FAD_pyr_nucl-diS_OxRdtase. IPR026904. GidA-assoc_3. IPR002218. GIDA-rel. IPR020595. GIDA-rel_CS. [Graphical view]
Pfam	PF01134. GIDA. 1 hit. PF13932. GIDA_assoc_3. 1 hit. [Graphical view]
PRINTS	PR00368. FADPNR.
PROSITE	PS01280. GIDA_1. 1 hit. PS01281. GIDA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MTO1. human.
GenomeRNAi	25821.
NextBio	47075.
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Entry information

Entry name

MTO1_HUMAN

Accession

Primary (citable) accession number: Q9Y2Z2
Secondary accession number(s): B3KQB5 , 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:	May 1, 2013
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.