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    L3mbtl1 L3MBTL1 histone methyl-lysine binding protein [ Mus musculus (house mouse) ]

    Gene ID: 241764, updated on 5-Mar-2024

    Summary

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    Official Symbol
    L3mbtl1provided by MGI
    Official Full Name
    L3MBTL1 histone methyl-lysine binding proteinprovided by MGI
    Primary source
    MGI:MGI:2676663
    See related
    Ensembl:ENSMUSG00000035576 AllianceGenome:MGI:2676663
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    L3mbtl; mKIAA0681; C630004G01
    Summary
    Predicted to enable SAM domain binding activity; histone binding activity; and identical protein binding activity. Predicted to be involved in several processes, including negative regulation of transcription, DNA-templated; regulation of megakaryocyte differentiation; and regulation of mitotic nuclear division. Predicted to be located in chromosome; nucleoplasm; and plasma membrane. Predicted to be active in nucleus. Is expressed in several structures, including blastocyst; central nervous system; early embryo; genitourinary system; and sensory organ. Orthologous to human L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 2.6), CNS E18 (RPKM 2.4) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 H2; 2 83.88 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (162784260..162819726)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (162942333..162977806)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CDGSH iron sulfur domain 3B Neighboring gene STARR-seq mESC enhancer starr_06291 Neighboring gene STARR-positive B cell enhancer ABC_E7882 Neighboring gene serine and arginine-rich splicing factor 6 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene serum/glucocorticoid regulated kinase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Activity-Induced Regulation of Synaptic Strength through the Chromatin Reader L3mbtl1. Mao W, et al. Cell Rep, 2018 Jun 12. PMID 29898393, Free PMC Article
    2. Cognition and mood-related behaviors in L3mbtl1 null mutant mice. Shen EY, et al. PLoS One, 2015. PMID 25849281, Free PMC Article
    3. Chromatin protein L3MBTL1 is dispensable for development and tumor suppression in mice. Qin J, et al. J Biol Chem, 2010 Sep 3. PMID 20592034, Free PMC Article
    4. L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprinting. Li J, et al. Genomics, 2005 Oct. PMID 16081246
    5. Characterization of non-canonical Polycomb Repressive Complex 1 subunits during early mouse embryogenesis. Eid A, et al. Epigenetics, 2016 Jun 2. PMID 27081692, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0681

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SAM domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables nucleosome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in epigenetic regulation of gene expression NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of megakaryocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitotic nuclear division ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of chromatin lock complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in condensed chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    lethal(3)malignant brain tumor-like protein 1
    Names
    H-l(3)mbt protein
    L(3)mbt protein homolog

    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_001081338.3 → NP_001074807.1  lethal(3)malignant brain tumor-like protein 1

      See identical proteins and their annotated locations for NP_001074807.1

      Status: VALIDATED

      Source sequence(s)
      AL591584, AL606473
      Consensus CDS
      CCDS38314.1
      UniProtKB/Swiss-Prot
      A2A5N8, Q5DU20
      Related
      ENSMUSP00000044038.6, ENSMUST00000035751.12
      Conserved Domains (3) summary
      cd09582
      Location:754 → 819
      SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      162784260..162819726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251189.2 → XP_030107049.1  lethal(3)malignant brain tumor-like protein 1 isoform X11

      Conserved Domains (1) summary
      smart00561
      Location:283 → 380
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    2. XM_030251184.2 → XP_030107044.1  lethal(3)malignant brain tumor-like protein 1 isoform X6

      Conserved Domains (3) summary
      smart00561
      Location:464 → 556
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:592 → 620
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:719 → 752
      SAM_superfamily; SAM (Sterile alpha motif )

    3. XM_030251175.2 → XP_030107035.1  lethal(3)malignant brain tumor-like protein 1 isoform X2

      Conserved Domains (3) summary
      smart00561
      Location:498 → 590
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:626 → 654
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:753 → 786
      SAM_superfamily; SAM (Sterile alpha motif )

    4. XM_030251174.2 → XP_030107034.1  lethal(3)malignant brain tumor-like protein 1 isoform X1

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 787
      SAM_superfamily; SAM (Sterile alpha motif )

    5. XM_011239544.4 → XP_011237846.1  lethal(3)malignant brain tumor-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011237846.1

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 787
      SAM_superfamily; SAM (Sterile alpha motif )

    6. XM_011239540.4 → XP_011237842.1  lethal(3)malignant brain tumor-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011237842.1

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 787
      SAM_superfamily; SAM (Sterile alpha motif )

    7. XM_011239541.4 → XP_011237843.1  lethal(3)malignant brain tumor-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011237843.1

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 787
      SAM_superfamily; SAM (Sterile alpha motif )

    8. XM_011239543.4 → XP_011237845.1  lethal(3)malignant brain tumor-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011237845.1

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 787
      SAM_superfamily; SAM (Sterile alpha motif )

    9. XM_030251183.2 → XP_030107043.1  lethal(3)malignant brain tumor-like protein 1 isoform X5

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 807
      SAM_superfamily; SAM (Sterile alpha motif )

    10. XM_030251179.2 → XP_030107039.1  lethal(3)malignant brain tumor-like protein 1 isoform X4

      Conserved Domains (3) summary
      cd09582
      Location:753 → 818
      SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
      smart00561
      Location:498 → 590
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:626 → 654
      zf-C2HC; Zinc finger, C2HC type

    11. XM_036162017.1 → XP_036017910.1  lethal(3)malignant brain tumor-like protein 1 isoform X7

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 782
      SAM_superfamily; SAM (Sterile alpha motif )

    12. XM_036162019.1 → XP_036017912.1  lethal(3)malignant brain tumor-like protein 1 isoform X7

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 782
      SAM_superfamily; SAM (Sterile alpha motif )

    13. XM_030251190.2 → XP_030107050.1  lethal(3)malignant brain tumor-like protein 1 isoform X13

      Conserved Domains (4) summary
      smart00561
      Location:77 → 169
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:205 → 233
      zf-C2HC; Zinc finger, C2HC type
      pfam02820
      Location:2 → 69
      MBT; mbt repeat
      cl15755
      Location:332 → 365
      SAM_superfamily; SAM (Sterile alpha motif )

    14. XM_030251188.2 → XP_030107048.1  lethal(3)malignant brain tumor-like protein 1 isoform X9

      Conserved Domains (3) summary
      cd09582
      Location:719 → 784
      SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
      smart00561
      Location:464 → 556
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:592 → 620
      zf-C2HC; Zinc finger, C2HC type

    15. XM_030251186.2 → XP_030107046.1  lethal(3)malignant brain tumor-like protein 1 isoform X8

      Conserved Domains (3) summary
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:754 → 784
      SAM_superfamily; SAM (Sterile alpha motif )

    16. XM_030251176.2 → XP_030107036.1  lethal(3)malignant brain tumor-like protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2A5N8, Q5DU20
      Conserved Domains (3) summary
      cd09582
      Location:754 → 819
      SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
      smart00561
      Location:499 → 591
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:627 → 655
      zf-C2HC; Zinc finger, C2HC type

    17. XM_036162028.1 → XP_036017921.1  lethal(3)malignant brain tumor-like protein 1 isoform X13

      Conserved Domains (4) summary
      smart00561
      Location:77 → 169
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:205 → 233
      zf-C2HC; Zinc finger, C2HC type
      pfam02820
      Location:2 → 69
      MBT; mbt repeat
      cl15755
      Location:332 → 365
      SAM_superfamily; SAM (Sterile alpha motif )

    18. XM_036162021.1 → XP_036017914.1  lethal(3)malignant brain tumor-like protein 1 isoform X10

      Conserved Domains (4) summary
      cd09582
      Location:439 → 504
      SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
      smart00561
      Location:184 → 276
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:312 → 340
      zf-C2HC; Zinc finger, C2HC type
      pfam02820
      Location:2 → 69
      MBT; mbt repeat

    19. XM_011239553.3 → XP_011237855.1  lethal(3)malignant brain tumor-like protein 1 isoform X12

      See identical proteins and their annotated locations for XP_011237855.1

      Conserved Domains (3) summary
      smart00561
      Location:98 → 190
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:226 → 254
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:353 → 386
      SAM_superfamily; SAM (Sterile alpha motif )

    RNA

    1. XR_003952994.2 RNA Sequence

    2. XR_374471.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2A5N8.1 GenPept UniProtKB/Swiss-Prot:A2A5N8

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