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Q8WZ04

- TOMT_HUMAN

UniProt

Q8WZ04 - TOMT_HUMAN

Protein

Transmembrane O-methyltransferase

Gene

LRTOMT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 3 (14 Apr 2009)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei137 – 1371S-adenosyl-L-methioninePROSITE-ProRule annotation
    Binding sitei145 – 1451S-adenosyl-L-methioninePROSITE-ProRule annotation
    Binding sitei163 – 1631S-adenosyl-L-methioninePROSITE-ProRule annotation
    Binding sitei193 – 1931S-adenosyl-L-methionine; via amide nitrogenPROSITE-ProRule annotation

    GO - Molecular functioni

    1. catechol O-methyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. auditory receptor cell development Source: UniProtKB
    2. catecholamine catabolic process Source: UniProtKB
    3. neurotransmitter catabolic process Source: UniProtKB-KW
    4. sensory perception of sound Source: UniProtKB

    Keywords - Molecular functioni

    Methyltransferase, Transferase

    Keywords - Biological processi

    Catecholamine metabolism, Hearing, Neurotransmitter degradation

    Keywords - Ligandi

    S-adenosyl-L-methionine

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:25033. LRTOMT.

    Subcellular locationi

    Isoform 2 : Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161L → P in DFNB63. 1 Publication
    VAR_047554
    Natural varianti81 – 811R → Q in DFNB63. 1 Publication
    VAR_054955
    Natural varianti105 – 1051W → R in DFNB63. 1 Publication
    VAR_054956
    Natural varianti110 – 1101E → K in DFNB63. 1 Publication
    VAR_054957
    Natural varianti158 – 1581R → H in DFNB63. 1 Publication
    VAR_047555
    Natural varianti208 – 2081R → Q in DFNB63. 1 Publication
    Corresponds to variant rs61741195 [ dbSNP | Ensembl ].
    VAR_047556

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi611451. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA164722133.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291Transmembrane O-methyltransferasePRO_0000354093Add
    BLAST

    Proteomic databases

    PRIDEiQ8WZ04.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8WZ04.
    BgeeiQ8WZ04.
    GenevestigatoriQ8WZ04.

    Interactioni

    Protein-protein interaction databases

    BioGridi128624. 1 interaction.
    STRINGi9606.ENSP00000409403.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WZ04.
    SMRiQ8WZ04. Positions 79-290.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei31 – 5121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni139 – 1402S-adenosyl-L-methionine bindingPROSITE-ProRule annotation

    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

    eggNOGiCOG4122.
    HOGENOMiHOG000046392.
    OMAiIPCLRTQ.
    PhylomeDBiQ8WZ04.
    TreeFamiTF329140.

    Family and domain databases

    Gene3Di3.40.50.150. 1 hit.
    InterProiIPR025782. Catechol_O-MeTrfase.
    IPR002935. O-MeTrfase_3.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view]
    PANTHERiPTHR10509. PTHR10509. 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. Align

    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

    MGTPWRKRKG IAGPGLPDLS CALVLQPRAQ VGTMSPAIAL AFLPLVVTLL    50
    VRYRHYFRLL VRTVLLRSLR DCLSGLRIEE RAFSYVLTHA LPGDPGHILT 100
    TLDHWSSRCE YLSHMGPVKG QILMRLVEEK APACVLELGT YCGYSTLLIA 150
    RALPPGGRLL TVERDPRTAA VAEKLIRLAG FDEHMVELIV GSSEDVIPCL 200
    RTQYQLSRAD LVLLAHRPRC YLRDLQLLEA HALLPAGATV LADHVLFPGA 250
    PRFLQYAKSC GRYRCRLHHT GLPDFPAIKD GIAQLTYAGP G 291
    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 AAL55772.1 differs from that shown. Reason: Frameshift at position 91.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161L → P in DFNB63. 1 Publication
    VAR_047554
    Natural varianti81 – 811R → Q in DFNB63. 1 Publication
    VAR_054955
    Natural varianti105 – 1051W → R in DFNB63. 1 Publication
    VAR_054956
    Natural varianti110 – 1101E → K in DFNB63. 1 Publication
    VAR_054957
    Natural varianti158 – 1581R → H in DFNB63. 1 Publication
    VAR_047555
    Natural varianti208 – 2081R → Q in DFNB63. 1 Publication
    Corresponds to variant rs61741195 [ dbSNP | Ensembl ].
    VAR_047556

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei28 – 6740Missing in isoform 2. 2 PublicationsVSP_036898Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    ENST00000419228; ENSP00000392233; ENSG00000184154. [Q8WZ04-2]
    ENST00000435085; ENSP00000409789; ENSG00000184154. [Q8WZ04-1]
    GeneIDi220074.
    KEGGihsa:220074.
    UCSCiuc001ors.4. human. [Q8WZ04-2]
    uc010rqv.2. human. [Q8WZ04-1]

    Polymorphism databases

    DMDMi226693615.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS44668.1. [Q8WZ04-1 ]
    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 ]
    UniGenei Hs.317243.
    Hs.667985.

    3D structure databases

    ProteinModelPortali Q8WZ04.
    SMRi Q8WZ04. Positions 79-290.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128624. 1 interaction.
    STRINGi 9606.ENSP00000409403.

    Polymorphism databases

    DMDMi 226693615.

    Proteomic databases

    PRIDEi Q8WZ04.

    Protocols and materials databases

    DNASUi 220074.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307198 ; ENSP00000305742 ; ENSG00000184154 . [Q8WZ04-1 ]
    ENST00000419228 ; ENSP00000392233 ; ENSG00000184154 . [Q8WZ04-2 ]
    ENST00000435085 ; ENSP00000409789 ; ENSG00000184154 . [Q8WZ04-1 ]
    GeneIDi 220074.
    KEGGi hsa:220074.
    UCSCi uc001ors.4. human. [Q8WZ04-2 ]
    uc010rqv.2. human. [Q8WZ04-1 ]

    Organism-specific databases

    CTDi 220074.
    GeneCardsi GC11P071792.
    GeneReviewsi LRTOMT.
    HGNCi HGNC:25033. LRTOMT.
    MIMi 611451. phenotype.
    612414. gene.
    neXtProti NX_Q8WZ04.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA164722133.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4122.
    HOGENOMi HOG000046392.
    OMAi IPCLRTQ.
    PhylomeDBi Q8WZ04.
    TreeFami TF329140.

    Miscellaneous databases

    ChiTaRSi LRTOMT. human.
    GenomeRNAii 220074.
    NextBioi 90973.
    PROi Q8WZ04.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WZ04.
    Bgeei Q8WZ04.
    Genevestigatori Q8WZ04.

    Family and domain databases

    Gene3Di 3.40.50.150. 1 hit.
    InterProi IPR025782. Catechol_O-MeTrfase.
    IPR002935. O-MeTrfase_3.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view ]
    PANTHERi PTHR10509. PTHR10509. 1 hit.
    Pfami PF01596. Methyltransf_3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53335. SSF53335. 1 hit.
    PROSITEi PS51682. SAM_OMT_I. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS DFNB63 GLN-81; ARG-105 AND LYS-110.
      Tissue: Brain.
    2. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: IDENTIFICATION, FUNCTION, VARIANTS DFNB63 PRO-16; HIS-158 AND GLN-208.

    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: October 1, 2014
    This is version 74 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

    External Data

    Dasty 3