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L3MBTL3 - L3MBTL histone methyl-lysine binding protein 3 Gene

Also Known as MBT1; MBT-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84456

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	33980486	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables methylation-dependent protein binding	IPI IPI: Inferred from physical interaction	29691401	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17517653	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	29030483	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	29691401	GOA
involved in regulation of DNA methylation-dependent heterochromatin formation	IDA IDA: Inferred from direct assay	33980486	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in nucleus	IDA IDA: Inferred from direct assay	33980486	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

L3MBTL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	L3MBTL3	Q96JM7	OAZ3	Homo sapiens	Q9UMX2	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	OAZ3	Homo sapiens	Q9UMX2	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	NGB	Homo sapiens	Q9NPG2	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	PRKAA1	Homo sapiens	Q13131	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	PRKAA2	Homo sapiens	P54646	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	PRKAA2	Homo sapiens	P54646	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	PDE6G	Homo sapiens	P18545	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	PDE6G	Homo sapiens	P18545	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	L3MBTL3	Homo sapiens	Q96JM7	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	SAMD1	Homo sapiens	Q6SPF0	Anti Tag CoIP	26496610
Intra	L3MBTL3	Q96JM7	L3MBTL3	Homo sapiens	Q96JM7	Y2H	21516116
Intra	L3MBTL3	Q96JM7	PHC2	Homo sapiens	Q8IXK0	Y2H	21516116
Intra	L3MBTL3	Q96JM7	BANP	Homo sapiens	Q8N9N5	Y2H Array	31515488
Intra	L3MBTL3	Q96JM7	BANP	Homo sapiens	Q8N9N5	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	PHC2	Homo sapiens	Q8IXK0	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	SAMD1	Homo sapiens	Q6SPF0	TAP	24981860
Intra	L3MBTL3	Q96JM7	SAMD1	Homo sapiens	Q6SPF0	TAP	27705803
Intra	L3MBTL3	Q96JM7	L3MBTL3	Homo sapiens	Q96JM7	Y2H Array	31515488
Intra	L3MBTL3	Q96JM7	DNMT1	Homo sapiens	P26358	Anti Bait CoIP	29691401
Intra	L3MBTL3	Q96JM7	SAMD1	Homo sapiens	Q6SPF0	Anti Tag CoIP	33961781
Intra	L3MBTL3	Q96JM7	BANP	Homo sapiens	Q8N9N5	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	THRA	Homo sapiens	P10827	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	THRA	Homo sapiens	P10827	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	DCAF5	Homo sapiens	Q96JK2	Anti Tag CoIP	29691401
Intra	L3MBTL3	Q96JM7	DCAF5	Homo sapiens	Q96JK2	Anti Bait CoIP	29691401
Intra	L3MBTL3	Q96JM7	DDB1	Homo sapiens	Q16531	Anti Bait CoIP	29691401
Intra	L3MBTL3	Q96JM7	BYSL	Homo sapiens	Q13895	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	BYSL	Homo sapiens	Q13895	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	BYSL	Homo sapiens	Q13895	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	POLR2L	Homo sapiens	P62875	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	POLR2L	Homo sapiens	P62875	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	POLR2L	Homo sapiens	P62875	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	SNRPB	Homo sapiens	P14678-2	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	SNRPB	Homo sapiens	P14678-2	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	LSM4	Homo sapiens	Q9Y4Z0	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	LSM4	Homo sapiens	Q9Y4Z0	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	MORF4L1	Homo sapiens	Q9UBU8	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	MORF4L1	Homo sapiens	Q9UBU8	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	MORF4L1	Homo sapiens	Q9UBU8	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	MORF4L2	Homo sapiens	Q15014	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	MORF4L2	Homo sapiens	Q15014	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	MORF4L2	Homo sapiens	Q15014	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	E2F1	Homo sapiens	Q01094	Anti Tag CoIP	29691401
Intra	L3MBTL3	Q96JM7	ASB6	Homo sapiens	Q9NWX5	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	MAPK9	Homo sapiens	P45984	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	PHC2	Homo sapiens	Q8IXK0	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	PIK3R3	Homo sapiens	Q8N381	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	SP100	Homo sapiens	P23497	Validated Y2H	25416956
Intra	L3MBTL3	Q96JM7	SP100	Homo sapiens	P23497	Y2H Array	25416956
Intra	L3MBTL3	Q96JM7	SP100	Homo sapiens	P23497	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	E2F3	Homo sapiens	O00716	Anti Tag CoIP	17517653
Intra	L3MBTL3	Q96JM7	TTC19	Homo sapiens	Q6DKK2	Y2H Prey Pooling	25416956
Intra	L3MBTL3	Q96JM7	TTC19	Homo sapiens	Q6DKK2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15649	UNC1215		99.80%	Unkown
HY-15839	UNC 669	Inhibitor	99.74%	Unkown
HY-16510	UNC926	Inhibitor	99.97%	Unkown
HY-18372	UNC1021	Inhibitor	99.85%	Unkown
HY-16510A	UNC926 hydrochloride	Inhibitor	/	Unkown
HY-120772	UNC-1679	Antagonist	/	Unkown
HY-RS07486	L3MBTL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18575	L3mbtl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25059	L3mbtl3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	L3MBTL3	NCBI