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    LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [ Homo sapiens (human) ]

    Gene ID: 8649, updated on 9-Dec-2024

    Summary

    Official Symbol
    LAMTOR3provided by HGNC
    Official Full Name
    late endosomal/lysosomal adaptor, MAPK and MTOR activator 3provided by HGNC
    Primary source
    HGNC:HGNC:15606
    See related
    Ensembl:ENSG00000109270 MIM:603296; AllianceGenome:HGNC:15606
    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
    Also known as
    MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3
    Summary
    This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.3), brain (RPKM 11.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LAMTOR3 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99878336..99894546, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103193819..103210029, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100799493..100815703, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 4 open reading frame 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21741 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15583 Neighboring gene DnaJ heat shock protein family (Hsp40) member B14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15584 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:100870086-100870691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:100871297-100871901 Neighboring gene H2A.Z variant histone 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of FNIP-folliculin RagC/D GAP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Ragulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Ragulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Ragulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in late endosome membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ragulator complex protein LAMTOR3
    Names
    MAPK scaffold protein 1
    MEK binding partner 1
    late endosomal/lysosomal adaptor and MAPK and MTOR activator 3
    mitogen-activated protein kinase kinase 1 interacting protein 1
    mitogen-activated protein kinase scaffold protein 1

    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_001243736.1NP_001230665.1  ragulator complex protein LAMTOR3 isoform 2

      See identical proteins and their annotated locations for NP_001230665.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL544981, AP001962, BI562630
      Consensus CDS
      CCDS58920.1
      UniProtKB/TrEMBL
      Q53FH6
      Related
      ENSP00000226522.8, ENST00000226522.8
      Conserved Domains (1) summary
      pfam08923
      Location:3114
      MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting
    2. NM_021970.4NP_068805.1  ragulator complex protein LAMTOR3 isoform 1

      See identical proteins and their annotated locations for NP_068805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF201947, AK022313, AP001962, BC026245, DA300823
      Consensus CDS
      CCDS3652.1
      UniProtKB/Swiss-Prot
      B2R4A1, J3KMX4, Q9H364, Q9UHA4
      UniProtKB/TrEMBL
      Q53FH6
      Related
      ENSP00000424183.1, ENST00000499666.7
      Conserved Domains (1) summary
      pfam08923
      Location:3121
      MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting

    RNA

    1. NR_024170.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon that contains the start codon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame coding region, compared to variant 1.
      Source sequence(s)
      AK022313, BC110402, BI562630, DA300823

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      99878336..99894546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      103193819..103210029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)