• Gene id: 84456

Gene Summary

• Gene Symbol: L3MBTL3   Gene   UCSC   Ensembl
• Aliases: MBT-1, MBT1
• Gene name: L3MBTL histone methyl-lysine binding protein 3
• Alternate names: lethal(3)malignant brain tumor-like protein 3, H-l(3)mbt-like protein 3, L3MBTL3, histone methyl-lysine binding protein, l(3)mbt-like 3,
• Gene location: 6q23.1 (130018580: 130141448)     Exons: 30     NC_000006.12
• Gene summary(Entrez): 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 ar
• OMIM: 612454

Protein Summary

• Protein general information: Q96JM7  
  • Name: Lethal(3)malignant brain tumor like protein 3 (H l(3)mbt like protein 3) (L(3)mbt like protein 3) (MBT 1)
  • Length: 780  
  • Mass: 88337
• Sequence:

  MTESASSTSGQEFDVFSVMDWKDGVGTLPGSDLKFRVNEFGALEVITDENEMENVKKATATTTWMVPTAQEAPTS
  PPSSRPVFPPAYWTSPPGCPTVFSEKTGMPFRLKDPVKVEGLQFCENCCQYGNVDECLSGGNYCSQNCARHIKDK
  DQKEERDVEEDNEEEDPKCSRKKKPKLSLKADTKEDGEERDDEMENKQDVRILRGSQRARRKRRGDSAVLKQGLP
  PKGKKAWCWASYLEEEKAVAVPAKLFKEHQSFPYNKNGFKVGMKLEGVDPEHQSVYCVLTVAEVCGYRIKLHFDG
  YSDCYDFWVNADALDIHPVGWCEKTGHKLHPPKGYKEEEFNWQTYLKTCKAQAAPKSLFENQNITVIPSGFRVGM
  KLEAVDKKNPSFICVATVTDMVDNRFLVHFDNWDESYDYWCEASSPHIHPVGWCKEHRRTLITPPGYPNVKHFSW
  DKYLEETNSLPAPARAFKVKPPHGFQKKMKLEVVDKRNPMFIRVATVADTDDHRVKVHFDGWNNCYDYWIDADSP
  DIHPVGWCSKTGHPLQPPLSPLELMEASEHGGCSTPGCKGIGHFKRARHLGPHSAANCPYSEINLNKDRIFPDRL
  SGEMPPASPSFPRNKRTDANESSSSPEIRDQHADDVKEDFEERTESEMRTSHEARGAREEPTVQQAQRRSAVFLS
  FKSPIPCLPLRWEQQSKLLPTVAGIPASKVSKWSTDEVSEFIQSLPGCEEHGKVFKDEQIDGEAFLLMTQTDIVK
  IMSIKLGPALKIFNSILMFKAAEKNSHNEL

• Structural information:
  • Protein Domains: (708..77-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR004092  IPR001660  IPR013761  IPR002515  
  • Prosite: PS51079 PS50105 PS51802
  • PDB: 1WJQ 1WJS 3UT1 4FL6 4L59
  • PDBsum: 1WJQ 1WJS 3UT1 4FL6 4L59
  • DIP: 42798
  • STRING: ENSP00000431962
• Other Databases: GeneCards:  L3MBTL3  Malacards:  L3MBTL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	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:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0030851	granulocyte differentiation	IEA	biological process
GO:0030099	myeloid cell differentiation	IEA	biological process
GO:0030225	macrophage differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray