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LRTOMT leucine rich transmembrane and O-methyltransferase domain containing [ Pan troglodytes (chimpanzee) ]

Gene ID: 748243, updated on 3-Apr-2024

Summary

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Official Symbol
LRTOMTprovided by VGNC
Official Full Name
leucine rich transmembrane and O-methyltransferase domain containingprovided by VGNC
Primary source
VGNC:VGNC:53182
Locus tag
CK820_G0047605
See related
Ensembl:ENSPTRG00000004025
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Pan troglodytes
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pan
Summary
This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness in humans. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Aug 2013]
Orthologs
human all
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Genomic context

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Location:
chromosome: 11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current NHGRI_mPanTro3-v2.0_pri (GCF_028858775.2) 9 NC_072407.2 (74115901..74146113)
RS_2023_04 previous assembly NHGRI_mPanTro3-v1.1-hic.freeze_pri (GCF_028858775.1) Unplaced Scaffold NW_026545444.1 (53018..83230)

Chromosome 9 - NC_072407.2Genomic Context describing neighboring genes Neighboring gene nuclear mitotic apparatus protein 1 Neighboring gene U6 spliceosomal RNA Neighboring gene microRNA mir-3165 Neighboring gene small nucleolar RNA U13 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 Neighboring gene anaphase promoting complex subunit 15 Neighboring gene folate receptor gamma Neighboring gene folate receptor alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Ahmed ZM, et al. Nat Genet, 2008 Nov. PMID 18953341, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables catechol O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in catecholamine catabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in developmental process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
leucine-rich repeat-containing protein 51; transmembrane O-methyltransferase
Names
leucine rich transmembrane and 0-methyltransferase domain containing
NP_001138337.1
NP_001186282.1
NP_001269004.1
XP_054533360.1
XP_054533362.1
XP_054533363.1
XP_054533364.1
XP_054533365.1
XP_054533367.1
XP_054533368.1
XP_063638686.1
XP_063638687.1
XP_063638688.1
XP_063638689.1
XP_063638690.1
XP_063638691.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001144865.1 → NP_001138337.1  leucine-rich repeat-containing protein 51 isoform LRTOMT1

    See identical proteins and their annotated locations for NP_001138337.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the short transcript form. It encodes a leucine-rich repeat-containing protein that is known as LRTOMT1 or LRRC51.
    Source sequence(s)
    EU627071
    UniProtKB/Swiss-Prot
    B6CZ40, B6CZ41, B6CZ42, B6CZ43, B6CZ44
    Related
    ENSPTRP00000090908.1, ENSPTRT00000079141.1
    Conserved Domains (2) summary
    sd00033
    Location:52 → 80
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:80 → 139
    LRR_8; Leucine rich repeat

  2. NM_001199353.1 → NP_001186282.1  transmembrane O-methyltransferase isoform LRTOMT2a

    See identical proteins and their annotated locations for NP_001186282.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) 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.
    Source sequence(s)
    EU627074
    UniProtKB/Swiss-Prot
    P86243
    UniProtKB/TrEMBL
    A0A2J8PZY2, H2R551
    Related
    ENSPTRP00000075354.1, ENSPTRT00000107086.1
    Conserved Domains (1) summary
    COG4122
    Location:115 → 251
    YrrM; Predicted O-methyltransferase YrrM [General function prediction only]

  3. NM_001282075.1 → NP_001269004.1  transmembrane O-methyltransferase isoform LRTOMT2b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) 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 is a transmembrane catechol-O-methyltransferase, but lacks an internal segment, compared to isoform LRTOMT2a.
    Source sequence(s)
    EU627075
    UniProtKB/TrEMBL
    H2R551
    Conserved Domains (1) summary
    cl17173
    Location:72 → 209
    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: GCF_028858775.2-RS_2024_02

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

Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

Genomic

  1. NC_072407.2 Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

    Range
    74115901..74146113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054677390.1 → XP_054533365.1  leucine-rich repeat-containing protein 51 isoform X3

    UniProtKB/TrEMBL
    A0A2J8PZY9, A0A6D2WUW5, H2R552

  2. XM_063782618.1 → XP_063638688.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  3. XM_054677392.1 → XP_054533367.1  leucine-rich repeat-containing protein 51 isoform X3

    UniProtKB/TrEMBL
    A0A2J8PZY9, A0A6D2WUW5, H2R552

  4. XM_063782620.1 → XP_063638690.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  5. XM_054677387.2 → XP_054533362.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  6. XM_054677393.1 → XP_054533368.1  leucine-rich repeat-containing protein 51 isoform X3

    UniProtKB/TrEMBL
    A0A2J8PZY9, A0A6D2WUW5, H2R552

  7. XM_063782616.1 → XP_063638686.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  8. XM_063782619.1 → XP_063638689.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  9. XM_054677389.2 → XP_054533364.1  leucine-rich repeat-containing protein 51 isoform X3

    UniProtKB/TrEMBL
    A0A2J8PZY9, A0A6D2WUW5, H2R552

  10. XM_063782617.1 → XP_063638687.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  11. XM_063782621.1 → XP_063638691.1  leucine-rich repeat-containing protein 51 isoform X3

    UniProtKB/TrEMBL
    A0A2J8PZY9, A0A6D2WUW5, H2R552

  12. XM_054677388.2 → XP_054533363.1  leucine-rich repeat-containing protein 51 isoform X2

    UniProtKB/TrEMBL
    A0A2J8PZY8, A0A6D2XWW7, K7BN53

  13. XM_054677385.2 → XP_054533360.1  transmembrane O-methyltransferase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B6CZ40.1 GenPept UniProtKB/Swiss-Prot:B6CZ40
P86243.1 GenPept UniProtKB/Swiss-Prot:P86243

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