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    LRRTM3 leucine rich repeat transmembrane neuronal 3 [ Homo sapiens (human) ]

    Gene ID: 347731, updated on 27-Nov-2024

    Summary

    Official Symbol
    LRRTM3provided by HGNC
    Official Full Name
    leucine rich repeat transmembrane neuronal 3provided by HGNC
    Primary source
    HGNC:HGNC:19410
    See related
    Ensembl:ENSG00000198739 MIM:610869; AllianceGenome:HGNC:19410
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in regulation of presynapse assembly. Acts upstream of or within positive regulation of amyloid-beta formation. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.5), adrenal (RPKM 1.0) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LRRTM3 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (66926036..67101551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (67789258..67964743)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (68685794..68861309)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene catenin alpha 3 Neighboring gene uncharacterized LOC124902441 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15324 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15354 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:68197862-68199061 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15439 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15446 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15534 Neighboring gene uncharacterized LOC101928961 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:68685181-68686037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:68990147-68990732 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:68990733-68991316 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15618 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15623 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:69087266-69087766 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15668 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15678 Neighboring gene ribosomal protein L7a pseudogene 51 Neighboring gene microRNA 7151

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC131810

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    leucine-rich repeat transmembrane neuronal protein 3

    NCBI Reference Sequences (RefSeq)

    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_178011.5NP_821079.3  leucine-rich repeat transmembrane neuronal protein 3 precursor

      See identical proteins and their annotated locations for NP_821079.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AC022401, AC069536, BC111492
      Consensus CDS
      CCDS7270.1
      UniProtKB/Swiss-Prot
      A8K2A3, Q2NKX7, Q6N0A3, Q86VH5
      Related
      ENSP00000355187.3, ENST00000361320.5
      Conserved Domains (4) summary
      smart00013
      Location:3361
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:6686
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:86145
      LRR_8; Leucine rich repeat
      cd21340
      Location:156342
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    RNA

    1. NR_111909.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and contains two alternate 5' exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC022401, BU154601, DB029785

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      66926036..67101551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      67789258..67964743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)