• Gene id: 26013

Gene Summary

• Gene Symbol: L3MBTL1   Gene   UCSC   Ensembl
• Aliases: H-L(3)MBT, L3MBTL, ZC2HC3, dJ138B7.3
• Gene name: L3MBTL histone methyl-lysine binding protein 1
• Alternate names: lethal(3)malignant brain tumor-like protein 1, L3MBTL1, histone methyl-lysine binding protein, l(3)mbt protein homolog, l(3)mbt-like 1, lethal (3) malignant brain tumor l(3),
• Gene location: 20q13.12 (47753618: 47782752)     Exons: 11     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 608802

Protein Summary

• Protein general information: Q9Y468  
  • 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)
  • Length: 840  
  • Mass: 92297
  • Tissue specificity: Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60. {ECO
• Sequence:

  MHLVAGDSPGSGPHLPATAFIIPASSATLGLPSSALDVSCFPREPIHVGAPEQVAGCEPVSATVLPQLSAGPASS
  STSTVRLLEWTEAAAPPPGGGLRFRISEYKPLNMAGVEQPPSPELRQEGVTEYEDGGAPAGDGEAGPQQAEDHPQ
  NPPEDPNQDPPEDDSTCQCQACGPHQAAGPDLGSSNDGCPQLFQERSVIVENSSGSTSASELLKPMKKRKRREYQ
  SPSEEESEPEAMEKQEEGKDPEGQPTASTPESEEWSSSQPATGEKKECWSWESYLEEQKAITAPVSLFQDSQAVT
  HNKNGFKLGMKLEGIDPQHPSMYFILTVAEVCGYRLRLHFDGYSECHDFWVNANSPDIHPAGWFEKTGHKLQPPK
  GYKEEEFSWSQYLRSTRAQAAPKHLFVSQSHSPPPLGFQVGMKLEAVDRMNPSLVCVASVTDVVDSRFLVHFDNW
  DDTYDYWCDPSSPYIHPVGWCQKQGKPLTPPQDYPDPDNFCWEKYLEETGASAVPTWAFKVRPPHSFLVNMKLEA
  VDRRNPALIRVASVEDVEDHRIKIHFDGWSHGYDFWIDADHPDIHPAGWCSKTGHPLQPPLGPREPSSASPGGCP
  PLSYRSLPHTRTSKYSFHHRKCPTPGCDGSGHVTGKFTAHHCLSGCPLAERNQSRLKAELSDSEASARKKNLSGF
  SPRKKPRHHGRIGRPPKYRKIPQEDFQTLTPDVVHQSLFMSALSAHPDRSLSVCWEQHCKLLPGVAGISASTVAK
  WTIDEVFGFVQTLTGCEDQARLFKDEARIVRVTHVSGKTLVWTVAQLGDLVCSDHLQEGKGILETGVHSLLCSLP
  THLLAKLSFASDSQY

• Structural information:
  • Protein Domains: (751..82-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR004092  IPR002515  IPR036060  
  • Prosite: PS51079 PS50105 PS51802
  • PDB: 1OYX 1OZ2 1OZ3 2PQW 2RHI 2RHU 2RHX 2RHY 2RHZ 2RI2 2RI3 2RI5 2RJC 2RJD 2RJE 2RJF 3OQ5 3P8H 3UWN 6BYB
  • PDBsum: 1OYX 1OZ2 1OZ3 2PQW 2RHI 2RHU 2RHX 2RHY 2RHZ 2RI2 2RI3 2RI5 2RJC 2RJD 2RJE 2RJF 3OQ5 3P8H 3UWN 6BYB
  • DIP: 29628
  • STRING: ENSP00000398516
• Other Databases: GeneCards:  L3MBTL1  Malacards:  L3MBTL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0042393	histone binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045652	regulation of megakaryocyte differentiation	IDA	biological process
GO:0006325	chromatin organization	IDA	biological process
GO:0005730	nucleolus	IDA	NOT|cellular component
GO:0031491	nucleosome binding	IDA	molecular function
GO:0000785	chromatin	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0031493	nucleosomal histone binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000793	condensed chromosome	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0042393	histone binding	IPI	molecular function
GO:0035064	methylated histone binding	IPI	molecular function
GO:0035064	methylated histone binding	IPI	molecular function
GO:0035064	methylated histone binding	IPI	molecular function
GO:0030097	hemopoiesis	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051726	regulation of cell cycle	NAS	biological process
GO:0042393	histone binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0032093	SAM domain binding	IPI	molecular function
GO:0007088	regulation of mitotic nuclear division	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Breast cancer	PMID:21837478
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq