L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1)

2010-09-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
H-L(3)MBT,L3MBTL,ZC2HC3,dJ138B7.3
FUSION GENES

Other Information

Locus ID:

NCBI: 26013
MIM: 608802
HGNC: 15905
Ensembl: ENSG00000288000

Variants:

dbSNP: 26013
ClinVar: 26013
TCGA: ENSG00000288000
COSMIC: L3MBTL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000288000ENST00000657241A0A590UK80

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through MethylationREACTOMER-HSA-6804760

References

Pubmed IDYearTitleCitations
175401722007L3MBTL1, a histone-methylation-dependent chromatin lock.161
180424612007Structural basis for lower lysine methylation state-specific readout by MBT repeats of L3MBTL1 and an engineered PHD finger.96
180261172007L3MBTL1 recognition of mono- and dimethylated histones.86
184087542008Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1.71
125888622003The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6).44
208707252010The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at lysine 382 to target gene repression.36
211497332010L3MBTL1 polycomb protein, a candidate tumor suppressor in del(20q12) myeloid disorders, is essential for genome stability.33
218374782012Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1.25
151238272004Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies.18
205850432010Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells: possible role in 20q- polycythemia vera.14

Citation

Dessen P

L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51666/l3mbtl1