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Protein

Protein MTO1 homolog, mitochondrial

Gene

MTO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Cofactori

FADBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi43 – 48FADBy similarity6

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processtRNA processing
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000135297-MONOMER
ReactomeiR-HSA-6787450 tRNA modification in the mitochondrion

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000135297.15
HGNCiHGNC:19261 MTO1
MIMi614667 gene
neXtProtiNX_Q9Y2Z2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 10 (COXPD10)1 Publication
The disease is caused by mutations 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.
See also OMIM:614702
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068693453A → T in COXPD10. 1 PublicationCorresponds to variant dbSNP:rs143747297Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi25821
MalaCardsiMTO1
MIMi614702 phenotype
OpenTargetsiENSG00000135297
Orphaneti314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
PharmGKBiPA134974199

Polymorphism and mutation databases

BioMutaiMTO1
DMDMi20981712

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 25MitochondrionSequence analysisAdd BLAST25
ChainiPRO_000004268826 – 717Protein MTO1 homolog, mitochondrialAdd BLAST692

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei533N6-methyllysineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

PeptideAtlasiQ9Y2Z2
PRIDEiQ9Y2Z2
ProteomicsDBi85942
85943 [Q9Y2Z2-2]
85944 [Q9Y2Z2-3]
85945 [Q9Y2Z2-4]
85946 [Q9Y2Z2-5]
85947 [Q9Y2Z2-6]

PTM databases

iPTMnetiQ9Y2Z2
PhosphoSitePlusiQ9Y2Z2

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

BgeeiENSG00000135297
CleanExiHS_MTO1
ExpressionAtlasiQ9Y2Z2 baseline and differential
GenevisibleiQ9Y2Z2 HS

Organism-specific databases

HPAiHPA030230
HPA030232

Interactioni

Protein-protein interaction databases

BioGridi117349, 24 interactors
IntActiQ9Y2Z2, 6 interactors
MINTiQ9Y2Z2

Structurei

3D structure databases

ProteinModelPortaliQ9Y2Z2
SMRiQ9Y2Z2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MnmG family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

GeneTreeiENSGT00390000011297
HOVERGENiHBG031719
InParanoidiQ9Y2Z2
KOiK03495
OMAiFRPGYAI
OrthoDBiEOG091G03S2
PhylomeDBiQ9Y2Z2
TreeFamiTF354240

Family and domain databases

Gene3Di3.50.50.60, 2 hits
InterProiView protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR026904 GidA-assoc_3
IPR004416 MnmG
IPR002218 MnmG-rel
IPR020595 MnmG-rel_CS
PANTHERiPTHR11806 PTHR11806, 1 hit
PTHR11806:SF0 PTHR11806:SF0, 1 hit
PfamiView protein in Pfam
PF01134 GIDA, 1 hit
PF13932 GIDA_assoc, 1 hit
SUPFAMiSSF51905 SSF51905, 2 hits
PROSITEiView protein in PROSITE
PS01280 GIDA_1, 1 hit
PS01281 GIDA_2, 1 hit

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. AlignAdd to basket

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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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]
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.5 human [Q9Y2Z2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMTO1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2Z2
Secondary accession number(s): B3KQB5
, Q5SWL2, Q5SWL3, Q5SWL4, Q8NDN7, Q8WZ57, Q96FE6, Q9BS06
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 15, 2002
Last modified: June 20, 2018
This is version 164 of the entry and version 2 of the sequence. See 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

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