Transmembrane O-methyltransferase - Mus musculus (Mouse)

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A1Y9I9 (TOMT_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 49. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Transmembrane O-methyltransferase
EC=2.1.1.6

Alternative name(s):
Catechol O-methyltransferase 2
Protein LRTOMT2

Gene names

Name:	Tomt
Synonyms:	Comt2

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	258 AA.
Sequence status	Complete.
Protein existence	Evidence 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 methyltransferase superfamily. Catechol-O-methyltransferase family.
Caution	Despite its name, the murine TOMT protein does not contain a transmembrane region in contrast to primate orthologs.

Ontologies

Keywords
Biological process	Catecholamine metabolism Hearing Neurotransmitter degradation
Cellular component	Cytoplasm
Disease	Deafness
Molecular function	Methyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	auditory receptor cell development Inferred from mutant phenotype Ref.2. Source: UniProtKB catecholamine catabolic process Inferred from direct assay Ref.2. Source: UniProtKB neurotransmitter catabolic process Inferred from electronic annotation. Source: UniProtKB-KW sensory perception of sound Inferred from mutant phenotype Ref.2. Source: UniProtKB
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	catechol O-methyltransferase activity Inferred from direct assay Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 258

258

Transmembrane O-methyltransferase

PRO_0000354094

Experimental info

Mutagenesis

R → 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

Length

Mass (Da)

Tools

A1Y9I9 [UniParc].

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

FASTA

258

28,846

        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. 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.
IPI	IPI00828901.
RefSeq	NP_001075148.1. NM_001081679.1.
UniGene	Mm.475469.
3D structure databases
ProteinModelPortal	A1Y9I9.
SMR	A1Y9I9. Positions 46-257.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000102582.
Proteomic databases
PRIDE	A1Y9I9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000106969; ENSMUSP00000102582; ENSMUSG00000078630. ENSMUST00000106970; ENSMUSP00000102583; ENSMUSG00000078630.
GeneID	791260.
KEGG	mmu:791260.
UCSC	uc009ipu.1. mouse.
Organism-specific databases
CTD	791260.
MGI	MGI:3769724. Tomt.
Phylogenomic databases
eggNOG	COG4122.
GeneTree	ENSGT00390000011316.
HOGENOM	HOG000046392.
InParanoid	A1Y9I9.
OMA	KSCGRYR.
OrthoDB	EOG44QT1M.
Gene expression databases
Bgee	A1Y9I9.
Genevestigator	A1Y9I9.
Family and domain databases
InterPro	IPR025782. Catechol_O-MeTrfase. IPR002935. O-MeTrfase_3. [Graphical view]
PANTHER	PTHR10509. PTHR10509. 1 hit.
Pfam	PF01596. Methyltransf_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	LRTOMT. mouse.
NextBio	440083.
SOURCE	Search...

Entry information

Entry name

TOMT_MOUSE

Accession

Primary (citable) accession number: A1Y9I9

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 16, 2008
Last sequence update:	February 6, 2007
Last modified:	May 1, 2013
This is version 49 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents