Human Gene LRRC51 (ENST00000289488.8) from GENCODE V44
  Description: Homo sapiens leucine rich transmembrane and O-methyltransferase domain containing (LRTOMT), transcript variant 3, non-coding RNA. (from RefSeq NR_026886)
RefSeq Summary (NM_145309): This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017].
Gencode Transcript: ENST00000289488.8
Gencode Gene: ENSG00000184154.16
Transcript (Including UTRs)
   Position: hg38 chr11:72,080,850-72,096,895 Size: 16,046 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr11:72,089,084-72,095,520 Size: 6,437 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:72,080,850-72,096,895)mRNA (may differ from genome)Protein (192 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LRC51_HUMAN
DESCRIPTION: RecName: Full=Leucine-rich repeat-containing protein 51; AltName: Full=Protein LRTOMT1;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
MISCELLANEOUS: In primates, this protein is produced by a bicistronic gene which also produces the TOMT 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.
SIMILARITY: Contains 3 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.34 RPKM in Testis
Total median expression: 180.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.80175-0.296 Picture PostScript Text
3' UTR -468.301375-0.341 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt

ModBase Predicted Comparative 3D Structure on Q96E66
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK313150 - Homo sapiens cDNA, FLJ93642, highly similar to Homo sapiens leucine rich repeat containing 51 (LRRC51), mRNA.
AK298997 - Homo sapiens cDNA FLJ56230 complete cds, highly similar to Leucine-rich repeat-containing protein 51.
AK315892 - Homo sapiens cDNA, FLJ79541 complete cds, highly similar to Leucine-rich repeat-containing protein 51.
AK302772 - Homo sapiens cDNA FLJ52451 complete cds, weakly similar to Catechol O-methyltransferase (EC 2.1.1.6).
BC012855 - Homo sapiens leucine rich transmembrane and 0-methyltransferase domain containing, mRNA (cDNA clone MGC:9830 IMAGE:3863323), complete cds.
EU627066 - Homo sapiens LRTOMT isoform A mRNA, complete cds, alternatively spliced.
EU627068 - Homo sapiens LRTOMT isoform C mRNA, complete cds, alternatively spliced.
EU627069 - Homo sapiens LRTOMT isoform D mRNA, complete cds, alternatively spliced.
EU627070 - Homo sapiens LRTOMT isoform E mRNA, complete cds, alternatively spliced.
AK311690 - Homo sapiens cDNA, FLJ18732.
EU627067 - Homo sapiens LRTOMT isoform B mRNA, complete cds, alternatively spliced.
KJ895847 - Synthetic construct Homo sapiens clone ccsbBroadEn_05241 LRTOMT gene, encodes complete protein.
BC035223 - Homo sapiens leucine rich repeat containing 51, mRNA (cDNA clone IMAGE:4821851), with apparent retained intron.
JD469518 - Sequence 450542 from Patent EP1572962.
JD386945 - Sequence 367969 from Patent EP1572962.
JD174159 - Sequence 155183 from Patent EP1572962.
AF289588 - Homo sapiens clone pp7517 unknown mRNA.
JD266111 - Sequence 247135 from Patent EP1572962.
JD367177 - Sequence 348201 from Patent EP1572962.
JD367178 - Sequence 348202 from Patent EP1572962.
JD325832 - Sequence 306856 from Patent EP1572962.
JD152912 - Sequence 133936 from Patent EP1572962.
JD140574 - Sequence 121598 from Patent EP1572962.
JD152915 - Sequence 133939 from Patent EP1572962.
JD198280 - Sequence 179304 from Patent EP1572962.
JD152914 - Sequence 133938 from Patent EP1572962.
JD070083 - Sequence 51107 from Patent EP1572962.
JD072660 - Sequence 53684 from Patent EP1572962.
JD247413 - Sequence 228437 from Patent EP1572962.
JD367014 - Sequence 348038 from Patent EP1572962.
JD325488 - Sequence 306512 from Patent EP1572962.
JD257458 - Sequence 238482 from Patent EP1572962.
JD492113 - Sequence 473137 from Patent EP1572962.
JD492114 - Sequence 473138 from Patent EP1572962.
JD492115 - Sequence 473139 from Patent EP1572962.
JD513704 - Sequence 494728 from Patent EP1572962.
JD514441 - Sequence 495465 from Patent EP1572962.
JD371278 - Sequence 352302 from Patent EP1572962.
JD337581 - Sequence 318605 from Patent EP1572962.
JD321986 - Sequence 303010 from Patent EP1572962.
JD207638 - Sequence 188662 from Patent EP1572962.
JD352930 - Sequence 333954 from Patent EP1572962.
JD526246 - Sequence 507270 from Patent EP1572962.
JD152189 - Sequence 133213 from Patent EP1572962.
JD256730 - Sequence 237754 from Patent EP1572962.
JD407508 - Sequence 388532 from Patent EP1572962.
JD432408 - Sequence 413432 from Patent EP1572962.
JD560915 - Sequence 541939 from Patent EP1572962.
JD212899 - Sequence 193923 from Patent EP1572962.
JD542864 - Sequence 523888 from Patent EP1572962.
JD212898 - Sequence 193922 from Patent EP1572962.
JD059548 - Sequence 40572 from Patent EP1572962.
JD476793 - Sequence 457817 from Patent EP1572962.
JD312195 - Sequence 293219 from Patent EP1572962.
JD346685 - Sequence 327709 from Patent EP1572962.
JD506979 - Sequence 488003 from Patent EP1572962.
JD341092 - Sequence 322116 from Patent EP1572962.
JD334504 - Sequence 315528 from Patent EP1572962.
JD036651 - Sequence 17675 from Patent EP1572962.
JD195560 - Sequence 176584 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7X1, B6CZ35, B6CZ36, B6CZ37, B6CZ38, B6CZ39, B7Z5I4, ENST00000289488.1, ENST00000289488.2, ENST00000289488.3, ENST00000289488.4, ENST00000289488.5, ENST00000289488.6, ENST00000289488.7, LRC51_HUMAN, LRTOMT, NR_026886, Q96E66, uc001orr.1, uc001orr.2, uc001orr.3, uc001orr.4, uc001orr.5, uc001orr.6
UCSC ID: ENST00000289488.8
RefSeq Accession: NM_145309
Protein: Q96E66 (aka LRC51_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.