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Q8WZ04

- TOMT_HUMAN

UniProt

Q8WZ04 - TOMT_HUMAN

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Protein
Transmembrane O-methyltransferase
Gene
LRTOMT, COMT2, TOMT, PP7517
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei137 – 1371S-adenosyl-L-methionine By similarity
Binding sitei145 – 1451S-adenosyl-L-methionine By similarity
Binding sitei163 – 1631S-adenosyl-L-methionine By similarity
Binding sitei193 – 1931S-adenosyl-L-methionine; via amide nitrogen By similarity

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
Complete GO annotation...

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-methyltransferase (EC:2.1.1.6)
Alternative name(s):
Catechol O-methyltransferase 2
Protein LRTOMT2
Gene namesi
Name:LRTOMT
Synonyms:COMT2, 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei31 – 5121Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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-methyltransferase
PRO_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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni139 – 1402S-adenosyl-L-methionine binding By similarity

Sequence similaritiesi

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.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 73 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

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