Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q8WZ04 (TOMT_HUMAN)

Entry version 117 (02 Dec 2020)
Sequence version 3 (14 Apr 2009)
Previous versions | rss
Add a publicationFeedback
Protein

Transmembrane O-methyltransferase

Gene

LRTOMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).By similarity1 Publication

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMethyltransferase, Transferase
Biological processCatecholamine metabolism, Hearing, Neurotransmitter degradation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WZ04

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-379397, Enzymatic degradation of dopamine by COMT

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane O-methyltransferaseBy similarity (EC:2.1.1.6By similarity)
Alternative name(s):
Catechol O-methyltransferase 21 Publication
Protein LRTOMT2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LRTOMT
Synonyms:COMT21 Publication, TOMT
ORF Names:PP7517
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000184154.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:25033, LRTOMT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612414, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WZ04

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei31 – 51HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 63 (DFNB63)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04755416L → P in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs891068154Ensembl.1
Natural variantiVAR_07950652R → W in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1372399805Ensembl.1
Natural variantiVAR_05495581R → Q in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853185EnsemblClinVar.1
Natural variantiVAR_054956105W → R in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853186EnsemblClinVar.1
Natural variantiVAR_054957110E → K in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853187EnsemblClinVar.1
Natural variantiVAR_047555158R → H in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758115449Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		220074

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		LRTOMT

MalaCards human disease database

More...MalaCardsi		LRTOMT
MIMi611451, phenotype

Open Targets

More...OpenTargetsi		ENSG00000184154

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164722133

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WZ04, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRTOMT

Domain mapping of disease mutations (DMDM)

More...DMDMi		226693615

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003540931 – 291Transmembrane O-methyltransferaseAdd BLAST291

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WZ04

PeptideAtlas

More...PeptideAtlasi		Q8WZ04

PRoteomics IDEntifications database

More...PRIDEi		Q8WZ04

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75203 [Q8WZ04-1]
75204 [Q8WZ04-2]

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WZ04

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000184154, Expressed in testis and 140 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WZ04, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WZ04, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000184154, Tissue enhanced (fallopian tube, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with LHFPL5, PCDH15, TMC1, TMC2 and TMIE.

Interacts directly with TMC1. The interaction of TOMT with TMC1 and TMC2 is required for the transportation of TMC1/2 into the stereocilia of hair cells.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128624, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000305742

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WZ04, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WZ04

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni139 – 140S-adenosyl-L-methionine bindingPROSITE-ProRule annotation2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1663, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_050461_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WZ04

Identification of Orthologs from Complete Genome Data

More...OMAi		EERAYQY

Database of Orthologous Groups

More...OrthoDBi		1274244at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WZ04

TreeFam database of animal gene trees

More...TreeFami		TF329140

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029063, SAM-dependent_MTases
IPR002935, SAM_O-MeTrfase
IPR033025, TOMT

The PANTHER Classification System

More...PANTHERi		PTHR43836:SF1, PTHR43836:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01596, Methyltransf_3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53335, SSF53335, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51682, SAM_OMT_I, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q96E66LRC51_HUMAN
Leucine-rich repeat-containing prot...
LRTOMT LRRC51
192Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYI0F5GYI0_HUMAN
Leucine-rich repeat-containing prot...
LRTOMT
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6F7F5H6F7_HUMAN
Leucine-rich repeat-containing prot...
LRTOMT
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6K5F5H6K5_HUMAN
Leucine-rich repeat-containing prot...
LRTOMT
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04755416L → P in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs891068154Ensembl.1
Natural variantiVAR_07950652R → W in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1372399805Ensembl.1
Natural variantiVAR_05495581R → Q in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853185EnsemblClinVar.1
Natural variantiVAR_054956105W → R in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853186EnsemblClinVar.1
Natural variantiVAR_054957110E → K in DFNB63. 1 PublicationCorresponds to variant dbSNP:rs137853187EnsemblClinVar.1
Natural variantiVAR_047555158R → H in DFNB63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758115449Ensembl.1
Natural variantiVAR_047556208R → Q1 PublicationCorresponds to variant dbSNP:rs61741195EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03689828 – 67Missing in isoform 2. 2 PublicationsAdd BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44668.1 [Q8WZ04-1]

NCBI Reference Sequences

More...RefSeqi		NP_001138780.1, NM_001145308.4 [Q8WZ04-1]
NP_001138781.1, NM_001145309.3 [Q8WZ04-1]
NP_001138782.1, NM_001145310.3 [Q8WZ04-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000307198; ENSP00000305742; ENSG00000184154 [Q8WZ04-1]
ENST00000435085; ENSP00000409789; ENSG00000184154 [Q8WZ04-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		220074

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:220074

UCSC genome browser

More...UCSCi		uc010rqw.3, human [Q8WZ04-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ8WZ04
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128624, 2 interactors
STRINGi9606.ENSP00000305742

PTM databases

PhosphoSitePlusiQ8WZ04

Polymorphism and mutation databases

BioMutaiLRTOMT
DMDMi226693615

Proteomic databases

PaxDbiQ8WZ04
PeptideAtlasiQ8WZ04
PRIDEiQ8WZ04
ProteomicsDBi75203 [Q8WZ04-1]
75204 [Q8WZ04-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34978, 55 antibodies

The DNASU plasmid repository

More...DNASUi		220074

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		220074
DisGeNETi220074
EuPathDBiHostDB:ENSG00000184154.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		LRTOMT
GeneReviewsiLRTOMT
HGNCiHGNC:25033, LRTOMT
HPAiENSG00000184154, Tissue enhanced (fallopian tube, testis)
MalaCardsiLRTOMT
MIMi611451, phenotype
612414, gene
neXtProtiNX_Q8WZ04
OpenTargetsiENSG00000184154
Orphaneti90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA164722133

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1663, Eukaryota
HOGENOMiCLU_050461_5_0_1
InParanoidiQ8WZ04
OMAiEERAYQY
OrthoDBi1274244at2759
PhylomeDBiQ8WZ04
TreeFamiTF329140

Enzyme and pathway databases

PathwayCommonsiQ8WZ04
ReactomeiR-HSA-379397, Enzymatic degradation of dopamine by COMT

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		220074, 2 hits in 838 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		LRTOMT, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		220074
PharosiQ8WZ04, Tbio

Protein Ontology

More...PROi		PR:Q8WZ04
RNActiQ8WZ04, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000184154, Expressed in testis and 140 other tissues
ExpressionAtlasiQ8WZ04, baseline and differential
GenevisibleiQ8WZ04, HS

Family and domain databases

InterProiView protein in InterPro
IPR029063, SAM-dependent_MTases
IPR002935, SAM_O-MeTrfase
IPR033025, TOMT
PANTHERiPTHR43836:SF1, PTHR43836:SF1, 1 hit
PfamiView protein in Pfam
PF01596, Methyltransf_3, 1 hit
SUPFAMiSSF53335, SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51682, SAM_OMT_I, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTOMT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WZ04
Secondary accession number(s): B7Z816
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 25, 2008
Last sequence update: April 14, 2009
Last modified: December 2, 2020
This is version 117 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again