L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1)

2010-09-01 Affiliation

Identity

HGNC

L3MBTL1

LOCATION

20q13.12

LOCUSID

26013

ALIAS

H-L(3)MBT,L3MBTL,ZC2HC3,dJ138B7.3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000288000	ENST00000657241	A0A590UK80

Pathways

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
Regulation of TP53 Activity	REACTOME	R-HSA-5633007
Regulation of TP53 Activity through Methylation	REACTOME	R-HSA-6804760

References

Pubmed ID	Year	Title	Citations
33515207	2021	Expression and DNA Methylation Status of the Imprinted Genes PEG10 and L3MBTL1 in the Umbilical Cord Blood and Placenta of the Offspring of Assisted Reproductive Technology.	3
33515207	2021	Expression and DNA Methylation Status of the Imprinted Genes PEG10 and L3MBTL1 in the Umbilical Cord Blood and Placenta of the Offspring of Assisted Reproductive Technology.	3
29737552	2018	Competing endogenous RNA network crosstalk reveals novel molecular markers in colorectal cancer.	9
29737552	2018	Competing endogenous RNA network crosstalk reveals novel molecular markers in colorectal cancer.	9
27553422	2017	Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.	4
27553422	2017	Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.	4
25754204	2015	The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.	5
25754204	2015	The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.	5
24243547	2014	Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers.	19
24243547	2014	Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers.	19
21837478	2012	Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1.	33
21837478	2012	Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1.	33
21341991	2011	L3MBTL1 deficiency directs the differentiation of human embryonic stem cells toward trophectoderm.	6
21341991	2011	L3MBTL1 deficiency directs the differentiation of human embryonic stem cells toward trophectoderm.	6
20585043	2010	Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells: possible role in 20q- polycythemia vera.	20

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-(l3mbtl-histone-methyl-lysine-binding-protein-1)