L3MBTL3 (L3MBTL histone methyl-lysine binding protein 3)

2014-11-01  

Identity

HGNC
LOCATION
6q23.1
LOCUSID
ALIAS
MBT-1,MBT1
FUSION GENES

Other Information

Locus ID:

NCBI: 84456
MIM: 618844
HGNC: 23035
Ensembl: ENSG00000198945

Variants:

dbSNP: 84456
ClinVar: 84456
TCGA: ENSG00000198945
COSMIC: L3MBTL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198945ENST00000361794Q96JM7
ENSG00000198945ENST00000368136Q96JM7
ENSG00000198945ENST00000368139Q96JM7
ENSG00000198945ENST00000526019Q96JM7
ENSG00000198945ENST00000526087E9PI01
ENSG00000198945ENST00000528385E9PLL7
ENSG00000198945ENST00000533560Q96JM7

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375236902023Association of the L3MBTL3 rs1125970 and rs4897367 Gene Polymorphisms With Coronary Heart Disease Susceptibility in the Chinese Population: A Case-Control Study.0
375236902023Association of the L3MBTL3 rs1125970 and rs4897367 Gene Polymorphisms With Coronary Heart Disease Susceptibility in the Chinese Population: A Case-Control Study.0
343739922022Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population.3
350880802022Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.2
364773672022The structure, binding and function of a Notch transcription complex involving RBPJ and the epigenetic reader protein L3MBTL3.1
343739922022Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population.3
350880802022Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.2
364773672022The structure, binding and function of a Notch transcription complex involving RBPJ and the epigenetic reader protein L3MBTL3.1
304427132019Proteolysis of methylated SOX2 protein is regulated by L3MBTL3 and CRL4(DCAF5) ubiquitin ligase.20
304567212019Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.4
304427132019Proteolysis of methylated SOX2 protein is regulated by L3MBTL3 and CRL4(DCAF5) ubiquitin ligase.20
304567212019Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.4
278418772017Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.264
290304832017RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1.34
278418772017Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.264

Citation

Dessen P

L3MBTL3 (L3MBTL histone methyl-lysine binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65154/l3mbtl3-(l3mbtl-histone-methyl-lysine-binding-protein-3)