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

Summary

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 several functions, including SAM domain binding activity; identical protein binding activity; and nucleosome binding activity. Predicted to be involved in several processes, including negative regulation of macromolecule biosynthetic process; regulation of megakaryocyte differentiation; and regulation of mitotic nuclear division. Predicted to be located in chromatin; condensed chromosome; and nucleoplasm. Predicted to be part of chromatin lock complex. 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, Nov 2024]
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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

L3mbtl1 (lethal 3 malignant brain tumor-like 1), a polycomb chromatin reader, is downregulated by neuronal activity and is essential for synaptic response and downscaling. L3mbtl1 knockout neurons enhanced synaptic transmission and restored homeostatic downscaling.
Title: Activity-Induced Regulation of Synaptic Strength through the Chromatin Reader L3mbtl1.
L3mbtl1 loss-of-function was associated with significant decreases in depression and and anxiety in some of the behavioral paradigms.
Title: Cognition and mood-related behaviors in L3mbtl1 null mutant mice.
generation and analysis of mice after disruption of L3MBTL1
Title: Chromatin protein L3MBTL1 is dispensable for development and tumor suppression in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L3mbtl1 (e-PCR), detects polymorphism
- UniSTS:547255

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 chromatin binding	ISS Inferred from Sequence or Structural Similarity 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 methylated histone binding	ISO Inferred from Sequence Orthology more info	PubMed
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables nucleosome binding	ISO Inferred from Sequence Orthology more info
enables nucleosome binding	ISS Inferred from Sequence or Structural Similarity 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 chromatin organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in epigenetic regulation of gene expression	NAS Non-traceable Author Statement more info	PubMed
involved_in hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
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 negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of megakaryocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of megakaryocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitotic nuclear division	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity 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 condensed chromosome	ISS Inferred from Sequence or Structural Similarity more info
NOT located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

162784260..162819726

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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 )
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 )
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 )
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 )
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 )
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 )
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 )
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 )
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
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 )
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 )
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 )
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
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 )
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
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 )
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
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 )