L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 26013
• Gene name: L3MBTL histone methyl-lysine binding protein 1
• Gene symbol: L3MBTL1
• Synonyms (NCBI Gene): H-L(3)MBT, L3MBTL, ZC2HC3, dJ138B7.3
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different iso

miRNA Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440349	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440349	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1102919	hsa-miR-155	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102925	hsa-miR-3148	CLIP-seq
MIRT1102926	hsa-miR-3681	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102929	hsa-miR-4504	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT1102931	hsa-miR-4668-5p	CLIP-seq
MIRT1102932	hsa-miR-542-3p	CLIP-seq
MIRT1102933	hsa-miR-548k	CLIP-seq
MIRT1102934	hsa-miR-548n	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT1102920	hsa-miR-181a	CLIP-seq
MIRT1102921	hsa-miR-181b	CLIP-seq
MIRT1102922	hsa-miR-181c	CLIP-seq
MIRT1102923	hsa-miR-181d	CLIP-seq
MIRT1102924	hsa-miR-3136-5p	CLIP-seq
MIRT1102927	hsa-miR-4262	CLIP-seq
MIRT1102928	hsa-miR-4439	CLIP-seq
MIRT1102930	hsa-miR-4513	CLIP-seq
MIRT2452829	hsa-miR-106a	CLIP-seq
MIRT2452830	hsa-miR-106b	CLIP-seq
MIRT2452831	hsa-miR-17	CLIP-seq
MIRT2452832	hsa-miR-20a	CLIP-seq
MIRT2452833	hsa-miR-20b	CLIP-seq
MIRT2452834	hsa-miR-3609	CLIP-seq
MIRT2452835	hsa-miR-4796-3p	CLIP-seq
MIRT2452836	hsa-miR-509-3p	CLIP-seq
MIRT2452837	hsa-miR-519d	CLIP-seq
MIRT2452838	hsa-miR-548ah	CLIP-seq
MIRT2452839	hsa-miR-93	CLIP-seq

Gene ontology (GO) Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	18408754
GO:0000793	Component	Condensed chromosome	IDA	10445843
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	18408754
GO:0005515	Function	Protein binding	IPI	12588862, 16415788, 17540172, 18408754, 20870719, 21149733, 22120668, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10445843, 17540172, 18408754
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	10445843
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10445843
GO:0006325	Process	Chromatin organization	IDA	17540172
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	10445843
GO:0008270	Function	Zinc ion binding	IEA
GO:0030097	Process	Hemopoiesis	IEP	15334543
GO:0031491	Function	Nucleosome binding	IDA	17540172
GO:0031507	Process	Heterochromatin formation	IDA	17540172
GO:0032093	Function	SAM domain binding	IPI	12588862
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IPI	17540172, 18474616
GO:0042802	Function	Identical protein binding	IPI	12588862
GO:0045652	Process	Regulation of megakaryocyte differentiation	IDA	18474616
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17540172, 18474616
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	12588862, 17540172
GO:0046872	Function	Metal ion binding	IEA
GO:0051726	Process	Regulation of cell cycle	NAS	15566354
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0061793	Component	Chromatin lock complex	IPI	17540172
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0140005	Function	Histone H4K20me2 reader activity	IDA	22120668
GO:0140005	Function	Histone H4K20me2 reader activity	IPI	17540172, 18408754
GO:0140128	Function	Histone H1 reader activity	IDA	19144645
GO:0140719	Process	Constitutive heterochromatin formation	IDA	18408754

Other IDs

• MIM: 608802
• HGNC: 15905
• e!Ensembl: ENSG00000185513

Protein

• UniProt ID: Q9Y468
• Protein name: Lethal(3)malignant brain tumor-like protein 1 (H-l(3)mbt) (H-l(3)mbt protein) (L(3)mbt-like) (L(3)mbt protein homolog) (L3MBTL1)
• Protein function: Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, thereby acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally
• PDB: 1OYX , 1OZ2 , 1OZ3 , 2PQW , 2RHI , 2RHU , 2RHX , 2RHY , 2RHZ , 2RI2 , 2RI3 , 2RI5 , 2RJC , 2RJD , 2RJE , 2RJF , 3OQ5 , 3P8H , 3UWN , 6BYB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01530	zf-C2HC	621 → 649	Zinc finger, C2HC type	Family
  PF02820	MBT	417 → 485	mbt repeat	Domain
  PF02820	MBT	521 → 589	mbt repeat	Domain
  PF02820	MBT	310 → 378	mbt repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60. {ECO:0000269|PubMed:10445843}.
• Sequence:

  MHLVAGDSPGSGPHLPATAFIIPASSATLGLPSSALDVSCFPREPIHVGAPEQVAGCEPV
  SATVLPQLSAGPASSSTSTVRLLEWTEAAAPPPGGGLRFRISEYKPLNMAGVEQPPSPEL
  RQEGVTEYEDGGAPAGDGEAGPQQAEDHPQNPPEDPNQDPPEDDSTCQCQACGPHQAAGP
  DLGSSNDGCPQLFQERSVIVENSSGSTSASELLKPMKKRKRREYQSPSEEESEPEAMEKQ
  EEGKDPEGQPTASTPESEEWSSSQPATGEKKECWSWESYLEEQKAITAPVSLFQDSQAVT
  HNKNGFKLGMKLEGIDPQHPSMYFILTVAEVCGYRLRLHFDGYSECHDFWVNANSPDIHP
  AGWFEKTGHKLQPPKGYKEEEFSWSQYLRSTRAQAAPKHLFVSQSHSPPPLGFQVGMKLE
  AVDRMNPSLVCVASVTDVVDSRFLVHFDNWDDTYDYWCDPSSPYIHPVGWCQKQGKPLTP
  PQDYPDPDNFCWEKYLEETGASAVPTWAFKVRPPHSFLVNMKLEAVDRRNPALIRVASVE
  DVEDHRIKIHFDGWSHGYDFWIDADHPDIHPAGWCSKTGHPLQPPLGPREPSSASPGGCP
  PLSYRSLPHTRTSKYSFHHRKCPTPGCDGSGHVTGKFTAHHCLSGCPLAERNQSRLKAEL
  SDSEASARKKNLSGFSPRKKPRHHGRIGRPPKYRKIPQEDFQTLTPDVVHQSLFMSALSA
  HPDRSLSVCWEQHCKLLPGVAGISASTVAKWTIDEVFGFVQTLTGCEDQARLFKDEARIV
  RVTHVSGKTLVWTVAQLGDLVCSDHLQEGKGILETGVHSLLCSLPTHLLAKLSFASDSQY
  

• Sequence length: 840

Pathways

KEGG Pathway:

Polycomb repressive complex

Reactome Pathway:

Regulation of TP53 Activity through Methylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
L3MBTL1-related disorder	Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (28)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31061493		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12588862, 21857667, 24243547, 31453329		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	17540172, 20870725, 27111853	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21837478		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38211440	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15334543, 22170482		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29737552		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	31061493		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	12588862, 21149733	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15334543		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	12588862, 12842041, 21149733		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12588862		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	21149733	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20585043	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15334543, 20585043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	10445843, 12588862, 15334543, 28552546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21837478		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15123827, 15566354, 21149733		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15334543		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20585043	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	15334543		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	15334543		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15334543, 20585043		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10445843, 12588862, 15334543, 15566354, 20585043, 20592034, 21149733, 21837478, 21857667, 24243547, 29511022		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	31061493		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	15566354, 20585043		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	20585043	Associate	★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	29476317		★☆☆☆☆ Found in Text Mining only

Related Genes

EP300 2 shared pathwaysPolycomb repressive complex, Regulation of TP53 Activity through Methylation Related via 2 shared pathways including Polycomb repressive complex, Regulation of TP53 Activity through Methylation.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EP300	0	[]	2	["Polycomb repressive complex","Regulation of TP53 Activity through Methylation"]	0	[]

Diseases Linked via Similar Genes

Cerebellar ataxia Linked via 1 of 1 related geneEP300 Breast neoplasms Linked via 1 of 1 related geneEP300 Adenoid cystic carcinoma Linked via 1 of 1 related geneEP300 Squamous cell carcinoma Linked via 1 of 1 related geneEP300 Transitional cell carcinoma Linked via 1 of 1 related geneEP300

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cerebellar ataxia	1	["EP300"]
Breast neoplasms	1	["EP300"]
Adenoid cystic carcinoma	1	["EP300"]
Squamous cell carcinoma	1	["EP300"]
Transitional cell carcinoma	1	["EP300"]