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Protein

Transmembrane O-methyltransferase

Gene

LRTOMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function.By similarity1 Publication

Catalytic activityi

S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei137S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei145S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei163S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei193S-adenosyl-L-methionine; via amide nitrogenPROSITE-ProRule annotation1

GO - Molecular functioni

  • catechol O-methyltransferase activity Source: UniProtKB

GO - Biological processi

  • auditory receptor cell development Source: UniProtKB
  • catecholamine catabolic process Source: UniProtKB
  • neurotransmitter catabolic process Source: UniProtKB-KW
  • sensory perception of sound Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Biological processi

Catecholamine metabolism, Hearing, Neurotransmitter degradation

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:G66-31611-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane O-methyltransferaseBy similarity (EC:2.1.1.6)
Alternative name(s):
Catechol O-methyltransferase 21 Publication
Protein LRTOMT2
Gene namesi
Name:LRTOMT
Synonyms:COMT21 Publication, TOMT
ORF Names:PP7517
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25033. LRTOMT.

Subcellular locationi

Isoform 2 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei31 – 51HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 63 (DFNB63)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:611451
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04755416L → P in DFNB63. 1 Publication1
Natural variantiVAR_05495581R → Q in DFNB63. 1 PublicationCorresponds to variant rs137853185dbSNPEnsembl.1
Natural variantiVAR_054956105W → R in DFNB63. 1 PublicationCorresponds to variant rs137853186dbSNPEnsembl.1
Natural variantiVAR_054957110E → K in DFNB63. 1 PublicationCorresponds to variant rs137853187dbSNPEnsembl.1
Natural variantiVAR_047555158R → H in DFNB63. 1 PublicationCorresponds to variant rs758115449dbSNPEnsembl.1
Natural variantiVAR_047556208R → Q in DFNB63. 1 PublicationCorresponds to variant rs61741195dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi220074.
MalaCardsiLRTOMT.
MIMi611451. phenotype.
OpenTargetsiENSG00000184154.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA164722133.

Polymorphism and mutation databases

DMDMi226693615.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003540931 – 291Transmembrane O-methyltransferaseAdd BLAST291

Proteomic databases

PaxDbiQ8WZ04.
PRIDEiQ8WZ04.

Expressioni

Gene expression databases

BgeeiENSG00000184154.
ExpressionAtlasiQ8WZ04. baseline and differential.
GenevisibleiQ8WZ04. HS.

Interactioni

Protein-protein interaction databases

BioGridi128624. 2 interactors.
STRINGi9606.ENSP00000305742.

Structurei

3D structure databases

ProteinModelPortaliQ8WZ04.
SMRiQ8WZ04.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni139 – 140S-adenosyl-L-methionine bindingPROSITE-ProRule annotation2

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1663. Eukaryota.
COG4122. LUCA.
GeneTreeiENSGT00390000011316.
HOGENOMiHOG000046392.
InParanoidiQ8WZ04.
OMAiEERAFQY.
OrthoDBiEOG091G0GQK.
PhylomeDBiQ8WZ04.
TreeFamiTF329140.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002935. O-MeTrfase_3.
IPR029063. SAM-dependent_MTases.
IPR033025. TOMT.
[Graphical view]
PANTHERiPTHR10509:SF1. PTHR10509:SF1. 1 hit.
PfamiPF01596. Methyltransf_3. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
PROSITEiPS51682. SAM_OMT_I. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WZ04-1) [UniParc]FASTAAdd to basket
Also known as: D'

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
MGTPWRKRKG IAGPGLPDLS CALVLQPRAQ VGTMSPAIAL AFLPLVVTLL
60 70 80 90 100
VRYRHYFRLL VRTVLLRSLR DCLSGLRIEE RAFSYVLTHA LPGDPGHILT
110 120 130 140 150
TLDHWSSRCE YLSHMGPVKG QILMRLVEEK APACVLELGT YCGYSTLLIA
160 170 180 190 200
RALPPGGRLL TVERDPRTAA VAEKLIRLAG FDEHMVELIV GSSEDVIPCL
210 220 230 240 250
RTQYQLSRAD LVLLAHRPRC YLRDLQLLEA HALLPAGATV LADHVLFPGA
260 270 280 290
PRFLQYAKSC GRYRCRLHHT GLPDFPAIKD GIAQLTYAGP G
Length:291
Mass (Da):32,155
Last modified:April 14, 2009 - v3
Checksum:iF6108CBEE0FF49E7
GO
Isoform 2 (identifier: Q8WZ04-2) [UniParc]FASTAAdd to basket
Also known as: E'

The sequence of this isoform differs from the canonical sequence as follows:
     28-67: Missing.

Show »
Length:251
Mass (Da):27,548
Checksum:iBB46042216F8830C
GO

Sequence cautioni

The sequence AAL55772 differs from that shown. Reason: Frameshift at position 91.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04755416L → P in DFNB63. 1 Publication1
Natural variantiVAR_05495581R → Q in DFNB63. 1 PublicationCorresponds to variant rs137853185dbSNPEnsembl.1
Natural variantiVAR_054956105W → R in DFNB63. 1 PublicationCorresponds to variant rs137853186dbSNPEnsembl.1
Natural variantiVAR_054957110E → K in DFNB63. 1 PublicationCorresponds to variant rs137853187dbSNPEnsembl.1
Natural variantiVAR_047555158R → H in DFNB63. 1 PublicationCorresponds to variant rs758115449dbSNPEnsembl.1
Natural variantiVAR_047556208R → Q in DFNB63. 1 PublicationCorresponds to variant rs61741195dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03689828 – 67Missing in isoform 2. 2 PublicationsAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU627069 mRNA. No translation available.
EU627070 mRNA. No translation available.
AF289588 mRNA. Translation: AAL55772.1. Frameshift.
AK302772 mRNA. Translation: BAH13802.1.
AP000812 Genomic DNA. No translation available.
CCDSiCCDS44668.1. [Q8WZ04-1]
RefSeqiNP_001138780.1. NM_001145308.4. [Q8WZ04-1]
NP_001138781.1. NM_001145309.3. [Q8WZ04-1]
NP_001138782.1. NM_001145310.3. [Q8WZ04-2]
UniGeneiHs.317243.
Hs.667985.

Genome annotation databases

EnsembliENST00000307198; ENSP00000305742; ENSG00000184154. [Q8WZ04-1]
ENST00000435085; ENSP00000409789; ENSG00000184154. [Q8WZ04-1]
GeneIDi220074.
KEGGihsa:220074.
UCSCiuc010rqw.3. human. [Q8WZ04-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU627069 mRNA. No translation available.
EU627070 mRNA. No translation available.
AF289588 mRNA. Translation: AAL55772.1. Frameshift.
AK302772 mRNA. Translation: BAH13802.1.
AP000812 Genomic DNA. No translation available.
CCDSiCCDS44668.1. [Q8WZ04-1]
RefSeqiNP_001138780.1. NM_001145308.4. [Q8WZ04-1]
NP_001138781.1. NM_001145309.3. [Q8WZ04-1]
NP_001138782.1. NM_001145310.3. [Q8WZ04-2]
UniGeneiHs.317243.
Hs.667985.

3D structure databases

ProteinModelPortaliQ8WZ04.
SMRiQ8WZ04.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128624. 2 interactors.
STRINGi9606.ENSP00000305742.

Polymorphism and mutation databases

DMDMi226693615.

Proteomic databases

PaxDbiQ8WZ04.
PRIDEiQ8WZ04.

Protocols and materials databases

DNASUi220074.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307198; ENSP00000305742; ENSG00000184154. [Q8WZ04-1]
ENST00000435085; ENSP00000409789; ENSG00000184154. [Q8WZ04-1]
GeneIDi220074.
KEGGihsa:220074.
UCSCiuc010rqw.3. human. [Q8WZ04-1]

Organism-specific databases

CTDi220074.
DisGeNETi220074.
GeneCardsiLRTOMT.
GeneReviewsiLRTOMT.
HGNCiHGNC:25033. LRTOMT.
MalaCardsiLRTOMT.
MIMi611451. phenotype.
612414. gene.
neXtProtiNX_Q8WZ04.
OpenTargetsiENSG00000184154.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA164722133.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1663. Eukaryota.
COG4122. LUCA.
GeneTreeiENSGT00390000011316.
HOGENOMiHOG000046392.
InParanoidiQ8WZ04.
OMAiEERAFQY.
OrthoDBiEOG091G0GQK.
PhylomeDBiQ8WZ04.
TreeFamiTF329140.

Enzyme and pathway databases

BioCyciZFISH:G66-31611-MONOMER.

Miscellaneous databases

ChiTaRSiLRTOMT. human.
GenomeRNAii220074.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184154.
ExpressionAtlasiQ8WZ04. baseline and differential.
GenevisibleiQ8WZ04. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002935. O-MeTrfase_3.
IPR029063. SAM-dependent_MTases.
IPR033025. TOMT.
[Graphical view]
PANTHERiPTHR10509:SF1. PTHR10509:SF1. 1 hit.
PfamiPF01596. Methyltransf_3. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
PROSITEiPS51682. SAM_OMT_I. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTOMT_HUMAN
AccessioniPrimary (citable) accession number: Q8WZ04
Secondary accession number(s): B7Z816
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 25, 2008
Last sequence update: April 14, 2009
Last modified: November 2, 2016
This is version 90 of the entry and version 3 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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.