L3MBTL3 - L3MBTL histone methyl-lysine binding protein 3 Gene

Homo sapiens

Also known as MBT1; MBT-1

Gene ID: 84456 | Gene type: protein coding

About L3MBTL3

Cytogenetic location: 6q23.1 Genomic coordinates (GRCh38): 6:130,018,581-130,141,438 (from NCBI)

This gene has 10 transcripts (splice variants), 169 orthologues and 18 paralogues. Ubiquitous expression in endometrium (RPKM 5.0), spleen (RPKM 4.6) and 24 other tissues.

Summary

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]

L3MBTL3 Products(4)

mRNA	Protein	Name
NM_001007102.4	NP_001007103.1	lethal(3)malignant brain tumor-like protein 3 isoform b
NM_001346550.2	NP_001333479.1	lethal(3)malignant brain tumor-like protein 3 isoform b
NM_001346551.2	NP_001333480.1	lethal(3)malignant brain tumor-like protein 3 isoform b
NM_032438.4	NP_115814.1	lethal(3)malignant brain tumor-like protein 3 isoform a

L3MBTL3 Protein Structure

MBT

SAM_1

0
200
400
600
780 a.a.

Protein Preferred Names

Protein Names

lethal(3)malignant brain tumor-like protein 3

H-l(3)mbt-like protein 3

Related Diseases

Diseases

Alias

Lipodystrophy, Familial Partial, Type 1

FPLD1	Familial Partial Lipodystrophy Type 1
Familial Partial Lipodystrophy, Kobberling Type	Lipodystrophy, Familial Partial, Kobberling Type
Familial Partial Lipodystrophy Kobberling Type	Familial Partial Lipodystrophy Type Köbberling
Familial Partial Lipodystrophy, Köbberling Type	Familial Partial Lipodystrophy, Type 1

N Syndrome

NSX	Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15649	UNC1215		98.47%	Unkown
HY-15839	UNC 669	Inhibitor	99.74%	Unkown
HY-16510	UNC926	Inhibitor	99.82%	Unkown
HY-16510A	UNC926 hydrochloride	Inhibitor	/	Unkown
HY-18372	UNC1021	Inhibitor	96.02%	Unkown
HY-RS07486	L3MBTL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	L3MBTL3	MGD	MGI:2143628
Macaca mulatta	L3MBTL3	VGNC	VGNC:74106
Canis familiaris	L3MBTL3	VGNC	VGNC:53732
Rattus norvegicus	L3MBTL3	RGD	RGD:1305474
Felis catus	L3MBTL3	VGNC	VGNC:63183
Bos taurus	L3MBTL3	VGNC	VGNC:50640

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