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A1Y9I9 (TOMT_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 56. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane O-methyltransferase

EC=2.1.1.6
Alternative name(s):
Catechol O-methyltransferase 2
Protein LRTOMT2
Gene names
Name:Tomt
Synonyms:Comt2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones By similarity. Required for auditory function. Ref.2 UniProtKB P21964

Catalytic activity

S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol. Ref.2 UniProtKB P21964

Subcellular location

Cytoplasm Ref.1.

Tissue specificity

Widely expressed with high levels in outer and inner hair cells of the cochlea and vestibule. Ref.1 Ref.2

Developmental stage

Not detected in the embryo at E12.5. At E14.5, expressed in the developing inner ear. At E16.5, expressed in the utricle and saccule. At E18.5, expressed specifically in the region of the sensory cells of the cochlea, utricle, saccule and crista ampullaris. Ref.1

Miscellaneous

In primates, this protein is produced by a bicistronic gene which also produces the LRRC51 protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene.

Sequence similarities

Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.

Caution

Despite its name, the murine TOMT protein does not contain a transmembrane region in contrast to primate orthologs.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 258258Transmembrane O-methyltransferase
PRO_0000354094

Regions

Region106 – 1072S-adenosyl-L-methionine binding By similarity

Sites

Binding site1041S-adenosyl-L-methionine By similarity
Binding site1121S-adenosyl-L-methionine By similarity
Binding site1301S-adenosyl-L-methionine By similarity
Binding site1601S-adenosyl-L-methionine; via amide nitrogen By similarity

Experimental info

Mutagenesis481R → L in add; reduces methyltransferase activity; causes hyperkinesis, circling, head-tossing, aggression, progressive degeneration of the organ of Corti, hair cell defects and profound deafness. Ref.2

Sequences

Sequence LengthMass (Da)Tools
A1Y9I9 [UniParc].

Last modified February 6, 2007. Version 1.
Checksum: 393954F017C67E0C

FASTA25828,846
        10         20         30         40         50         60 
MSPAIALAFL PLVVTLLVRY RHHFRLLVRT VLLRGFRDCL SGLRIEERAF SYVLTHALPG 

        70         80         90        100        110        120 
DPGHILTTLD HWSSCCEYLS HMGPVKGQIL MRLVEEKAPA CVLELGTYCG YSTLLIARAL 

       130        140        150        160        170        180 
PPGSRLLTVE RDSRTAAVAE KVIRLAGFDE QMVELIAGSS EEVIPRLRAQ HQLNRADLVL 

       190        200        210        220        230        240 
LAHRPRYYLR DLQLLEAHAL LPHGATVLAD HVLFPGAPRF LQYTKSCGRY RCRLHHTSLP 

       250 
DFPAIKDGIA QLTYTGPG 

« Hide

References

[1]"Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans."
Ahmed Z.M., Masmoudi S., Kalay E., Belyantseva I.A., Mosrati M.A., Collin R.W.J., Riazuddin S., Hmani-Aifa M., Venselaar H., Kawar M.N., Tlili A., van der Zwaag B., Khan S.Y., Ayadi L., Riazuddin S.A., Morell R.J., Griffith A.J., Charfedine I. expand/collapse author list , Caylan R., Oostrik J., Karaguzel A., Ghorbel A., Riazuddin S., Friedman T.B., Ayadi H., Kremer H.
Nat. Genet. 40:1335-1340(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Strain: C57BL/6J.
Tissue: Brain.
[2]"A catechol-O-methyltransferase that is essential for auditory function in mice and humans."
Du X., Schwander M., Moresco E.M.Y., Viviani P., Haller C., Hildebrand M.S., Pak K., Tarantino L., Roberts A., Richardson H., Koob G., Najmabadi H., Ryan A.F., Smith R.J.H., Mueller U., Beutler B.
Proc. Natl. Acad. Sci. U.S.A. 105:14609-14614(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY, MUTAGENESIS OF ARG-48.
Strain: C57BL/6J.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EU627091 mRNA. Translation: ACF40901.1.
DQ854743 mRNA. Translation: ABI37014.1.
RefSeqNP_001075148.1. NM_001081679.1.
NP_001269017.1. NM_001282088.1.
XP_006508413.1. XM_006508350.1.
UniGeneMm.475469.

3D structure databases

ProteinModelPortalA1Y9I9.
SMRA1Y9I9. Positions 46-257.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000102582.

Proteomic databases

PRIDEA1Y9I9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000106969; ENSMUSP00000102582; ENSMUSG00000078630.
ENSMUST00000106970; ENSMUSP00000102583; ENSMUSG00000078630.
GeneID791260.
KEGGmmu:791260.
UCSCuc009ipu.1. mouse.

Organism-specific databases

CTD791260.
MGIMGI:3769724. Tomt.

Phylogenomic databases

eggNOGCOG4122.
GeneTreeENSGT00390000011316.
HOGENOMHOG000046392.
InParanoidA1Y9I9.
OMAIPCLRTQ.
OrthoDBEOG77T154.
PhylomeDBA1Y9I9.
TreeFamTF329140.

Enzyme and pathway databases

SABIO-RKA1Y9I9.

Gene expression databases

BgeeA1Y9I9.
GenevestigatorA1Y9I9.

Family and domain databases

InterProIPR025782. Catechol_O-MeTrfase.
IPR002935. O-MeTrfase_3.
[Graphical view]
PANTHERPTHR10509. PTHR10509. 1 hit.
PfamPF01596. Methyltransf_3. 1 hit.
[Graphical view]
PROSITEPS51682. SAM_OMT_I. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLRTOMT. mouse.
NextBio440083.
PROA1Y9I9.
SOURCESearch...

Entry information

Entry nameTOMT_MOUSE
AccessionPrimary (citable) accession number: A1Y9I9
Entry history
Integrated into UniProtKB/Swiss-Prot: December 16, 2008
Last sequence update: February 6, 2007
Last modified: April 16, 2014
This is version 56 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot