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    LRRC51 leucine rich repeat containing 51 [ Homo sapiens (human) ]

    Gene ID: 120356739, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC51provided by HGNC
    Official Full Name
    leucine rich repeat containing 51provided by HGNC
    Primary source
    HGNC:HGNC:55526
    See related
    Ensembl:ENSG00000184154 AllianceGenome:HGNC:55526
    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
    Summary
    This gene belongs to the leucine-rich repeat containing family. The encoded protein contains a transmembrane domain and two leucine-rich repeat domains. Unlike in mouse and other mammals, readthrough transcription is observed in primates between this gene and the adjacent transmembrane O-methyltransferase (Tomt) gene. Previously, this locus was annotated as a single gene representing the readthrough transcripts as well as the two different transcript species that encoded different proteins. It has since been split into three genes, including the two stand-alone genes and a third gene representing the readthrough transcription. [provided by RefSeq, Feb 2022]
    Orthologs
    mouse all
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    Genomic context

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    See LRRC51 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72080850..72096895)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72007754..72023785)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71791896..71807941)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nuclear mitotic apparatus protein 1 Neighboring gene uncharacterized LOC124902815 Neighboring gene microRNA 3165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71790999-71791954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71791955-71792909 Neighboring gene leucine rich transmembrane and O-methyltransferase domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71814909-71815429 Neighboring gene uncharacterized LOC124902837 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

    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. A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Sarmadi A, et al. BMC Med Genet, 2020 Jun 9. PMID 32517708, Free PMC Article
    2. Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. Ichinose A, et al. Ann Otol Rhinol Laryngol, 2015 May. PMID 25788562
    3. The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. Charif M, et al. Mol Biol Rep, 2012 Dec. PMID 23053991
    4. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. Vanwesemael M, et al. Am J Med Genet A, 2011 Aug. PMID 21739586
    5. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. Kalay E, et al. J Mol Med (Berl), 2007 Apr. PMID 17211611

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Potential readthrough

    Included genes: LRTOMT, TOMT

    Homology

    Clone Names

    • MGC9830, FLJ18732, FLJ56230, FLJ79541, FLJ93642

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 51
    NP_001138779.1
    NP_001192067.1
    NP_001258400.1
    NP_001305732.1
    NP_660352.1

    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_001145307.5 → NP_001138779.1  leucine-rich repeat-containing protein 51 isoform 4

      See identical proteins and their annotated locations for NP_001138779.1

      Status: REVIEWED

      Source sequence(s)
      BC012855, DA151871
      Consensus CDS
      CCDS44667.1
      UniProtKB/TrEMBL
      C9JDG7
      Related
      ENSP00000438522.1, ENST00000541614.5
      Conserved Domains (2) summary
      sd00033
      Location:52 → 80
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:89 → 146
      LRR_9; Leucine-rich repeat

    2. NM_001205138.4 → NP_001192067.1  leucine-rich repeat-containing protein 51 isoform 7

      See identical proteins and their annotated locations for NP_001192067.1

      Status: REVIEWED

      Source sequence(s)
      BC012855, DA151871
      Consensus CDS
      CCDS55778.1
      UniProtKB/Swiss-Prot
      Q96E66
      Related
      ENSP00000441249.1, ENST00000423494.6
      Conserved Domains (2) summary
      sd00033
      Location:34 → 62
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:62 → 121
      LRR_8; Leucine rich repeat

    3. NM_001271471.3 → NP_001258400.1  leucine-rich repeat-containing protein 51 isoform LRTOMT1d

      See identical proteins and their annotated locations for NP_001258400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as C) represents the short transcript form. It lacks a splice junction in the 3' region, which results in a longer transcript and immediate translation termination, compared to variant 1. The encoded isoform (LRTOMT1d) is a LRR-containing protein, but is truncated at the C-terminus, compared to isoform LRTOMT1a. This protein is supported by Western blot as reported in PMID:18953341.
      Source sequence(s)
      AP000812, DA151871, EU627068
      Consensus CDS
      CCDS59227.1
      UniProtKB/TrEMBL
      C9JDG7
      Related
      ENSP00000440693.1, ENST00000324866.11
      Conserved Domains (2) summary
      sd00033
      Location:52 → 80
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:89 → 146
      LRR_9; Leucine-rich repeat

    4. NM_001318803.2 → NP_001305732.1  leucine-rich repeat-containing protein 51 isoform LRTOMT1a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as A) differs in the 5' UTR compared to variant 1. It encodes the longest isoform (LRTOMT1a) of the leucine-rich repeat (LRR)-containing protein. This protein is supported by Western blot as reported in PMID:18953341. Variants 1 and 9 both encode the same isoform (LRTOMT1a).
      Source sequence(s)
      BI461207, EU627066
      Consensus CDS
      CCDS8208.1
      UniProtKB/Swiss-Prot
      B2R7X1, B6CZ35, B6CZ36, B6CZ37, B6CZ38, B6CZ39, B7Z5I4, Q96E66
      Related
      ENSP00000444583.1, ENST00000538478.5
      Conserved Domains (2) summary
      sd00033
      Location:52 → 80
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:89 → 173
      LRR_9; Leucine-rich repeat

    5. NM_145309.6 → NP_660352.1  leucine-rich repeat-containing protein 51 isoform LRTOMT1a

      See identical proteins and their annotated locations for NP_660352.1

      Status: REVIEWED

      Source sequence(s)
      BC012855, DA151871
      Consensus CDS
      CCDS8208.1
      UniProtKB/Swiss-Prot
      B2R7X1, B6CZ35, B6CZ36, B6CZ37, B6CZ38, B6CZ39, B7Z5I4, Q96E66
      Related
      ENSP00000289488.2, ENST00000289488.8
      Conserved Domains (2) summary
      sd00033
      Location:52 → 80
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:89 → 173
      LRR_9; Leucine-rich repeat

    RNA

    1. NR_026886.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the short transcript form. It includes an alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK311690, BC012855, DA151871

    2. NR_134858.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      DA004114, EU627066
      Related
      ENST00000642510.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      72080850..72096895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      72007754..72023785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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