U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 120356739, updated on 21-Mar-2024

Summary

Go to the top of the page Help
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
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11q13.4
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72080850..72096895)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72007754..72023785)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Potential readthrough

Included genes: LRTOMT, TOMT

Homology

Clone Names

  • MGC9830, FLJ18732, FLJ56230, FLJ79541, FLJ93642

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_2023_10

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.