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

Gene ID: 120356739, updated on 5-Aug-2022

Summary

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
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Genomic context

See LRRC51 in Genome Data Viewer
Location:
chromosome: 11
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72080850..72096895)
110 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 U6 spliceosomal RNA Neighboring gene microRNA 3165 Neighboring gene leucine rich transmembrane and O-methyltransferase domain containing Neighboring gene small nucleolar RNA U13 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

Genomic regions, transcripts, and products

General gene information

Potential readthrough

Included genes: LRTOMT, TOMT

Homology

Clone Names

  • MGC9830, FLJ18732, FLJ56230, FLJ79541, FLJ93642

General protein information

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_001145307.5NP_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/Swiss-Prot
    Q96E66
    Related
    ENSP00000438522.1, ENST00000541614.5
    Conserved Domains (2) summary
    sd00033
    Location:5280
    LRR_RI; leucine-rich repeat [structural motif]
    pfam14580
    Location:89146
    LRR_9; Leucine-rich repeat
  2. NM_001205138.4NP_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:3462
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:62121
    LRR_8; Leucine rich repeat
  3. NM_001271471.3NP_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/Swiss-Prot
    Q96E66
    Related
    ENSP00000440693.1, ENST00000324866.11
    Conserved Domains (2) summary
    sd00033
    Location:5280
    LRR_RI; leucine-rich repeat [structural motif]
    pfam14580
    Location:89146
    LRR_9; Leucine-rich repeat
  4. NM_001318803.2NP_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
    B7Z5I4, Q96E66
    UniProtKB/TrEMBL
    A0A024R5L6
    Related
    ENSP00000444583.1, ENST00000538478.5
    Conserved Domains (2) summary
    sd00033
    Location:5280
    LRR_RI; leucine-rich repeat [structural motif]
    pfam14580
    Location:89173
    LRR_9; Leucine-rich repeat
  5. NM_145309.6NP_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
    B7Z5I4, Q96E66
    UniProtKB/TrEMBL
    A0A024R5L6
    Related
    ENSP00000289488.2, ENST00000289488.8
    Conserved Domains (2) summary
    sd00033
    Location:5280
    LRR_RI; leucine-rich repeat [structural motif]
    pfam14580
    Location:89173
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)