Format

Send to:

Choose Destination

LRTOMT leucine rich transmembrane and O-methyltransferase domain containing [ Homo sapiens (human) ]

Gene ID: 220074, updated on 8-Jul-2021

Summary

Official Symbol
LRTOMTprovided by HGNC
Official Full Name
leucine rich transmembrane and O-methyltransferase domain containingprovided by HGNC
Primary source
HGNC:HGNC:25033
See related
Ensembl:ENSG00000284922 MIM:612414
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB63; LRRC51; CFAP111
Summary
This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]
Expression
Broad expression in testis (RPKM 6.2), thyroid (RPKM 2.2) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See LRTOMT in Genome Data Viewer
Location:
11q13.4
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (72080850..72110782)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71791896..71821828)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nuclear mitotic apparatus protein 1 Neighboring gene Sharpr-MPRA regulatory region 3523 Neighboring gene microRNA 3165 Neighboring gene leucine rich repeat containing 51 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 Neighboring gene anaphase promoting complex subunit 15 Neighboring gene transmembrane O-methyltransferase Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 6 Neighboring gene folate receptor gamma

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ52451

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-dopa O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables O-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables catechol O-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables catechol O-methyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables catechol O-methyltransferase activity TAS
Traceable Author Statement
more info
 
enables orcinol O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in auditory receptor cell development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in catecholamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in catecholamine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dopamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transmembrane O-methyltransferase
Names
leucine rich transmembrane and 0-methyltransferase domain containing
NP_001138780.1
NP_001138781.1
NP_001138782.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021423.1 RefSeqGene

    Range
    4996..35447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145308.5NP_001138780.1  transmembrane O-methyltransferase isoform LRTOMT2a

    See identical proteins and their annotated locations for NP_001138780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the long transcript form. It has multiple differences from variant 1. This variant lacks the upstream open reading frame as seen in the other variants of the long transcript form. The encoded isoform (LRTOMT2a) is a transmembrane catechol-O-methyltransferase. This protein is supported by Western blot as reported in PMID:18953341. Variants 4 and 5 encode the same isoform LRTOMT2a.
    Source sequence(s)
    AK302772, BX115135, EU627069
    Consensus CDS
    CCDS44668.1
    UniProtKB/Swiss-Prot
    Q8WZ04
    Related
    ENSP00000305742.7, ENST00000307198.11
    Conserved Domains (1) summary
    cl17173
    Location:88249
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_001145309.4NP_001138781.1  transmembrane O-methyltransferase isoform LRTOMT2a

    See identical proteins and their annotated locations for NP_001138781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as D') represents the long transcript form. It lacks the 3' terminal exon and includes several alternate exons, compared to variant 1. This variant encodes isoform LRTOMT2a, which is a transmembrane catechol-O-methyltransferase and is supported by Western blot as reported in PMID: 18953341. Variants 4 and 5 encode the same isoform LRTOMT2a.
    Source sequence(s)
    BX115135, DA151871, EU627069
    UniProtKB/Swiss-Prot
    Q8WZ04
    Conserved Domains (1) summary
    cl17173
    Location:88249
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. NM_001145310.4NP_001138782.1  transmembrane O-methyltransferase isoform LRTOMT2b

    See identical proteins and their annotated locations for NP_001138782.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as E') represents the long transcript form. It lacks the 3' terminal exon and includes several alternate exons, compared to variant 1. This variant encodes isoform LRTOMT2b, which lacks an internal segment including the transmembrane region, compared to isoform LRTOMT2a. Isoform LRTOMT2b is a catechol-O-methyltransferase, which is supported by Western blot as reported in PMID: 18953341.
    Source sequence(s)
    DA151871, EU627070
    UniProtKB/Swiss-Prot
    Q8WZ04
    Conserved Domains (1) summary
    cl17173
    Location:48209
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    72080850..72110782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_073187.2: Suppressed sequence

    Description
    NR_073187.2: This RefSeq was permanently suppressed because this transcript has been represented by NM_001145309.3.
  2. NR_073188.2: Suppressed sequence

    Description
    NR_073188.2: This RefSeq was permanently suppressed because this transcript has been represented by NM_001145310.3.
Support Center