• Gene id: 91133

Gene Summary

• Gene Symbol: L3MBTL4   Gene   UCSC   Ensembl
• Aliases: HsT1031
• Gene name: L3MBTL histone methyl-lysine binding protein 4
• Alternate names: lethal(3)malignant brain tumor-like protein 4, H-l(3)mbt-like protein 4, L3MBTL4, histone methyl-lysine binding protein,
• Gene location: 18p11.31 (6415258: 5954702)     Exons: 32     NC_000018.10
• OMIM: 617135

Protein Summary

• Protein general information: Q8NA19  
  • Name: Lethal(3)malignant brain tumor like protein 4 (H l(3)mbt like protein 4) (L(3)mbt like protein 4) (L3mbt like 4)
  • Length: 623  
  • Mass: 71122
• Sequence:

  MKQPNRKRKLNMDSKERLDQDGRLEQAEEEKKPKDSTTPLSHVPSAAAQGAWSWEWYLKEQKAVAAPVELFSKDQ
  SFPEHENGFQIGMRLEGIDPRHPSVFCVLSVAEVCGYRLRLHFDGYLSCYDFWTNAGSPDIHPVGWCEKTKHELH
  IPKGYRKDKFVWMDYLKACKLQNAPKKLFRNRSPNGPMSKEFQVGMKLEAVDRKNPSLVCVATIADIVEDRLLVH
  FDNWDDSYDYWCDVNSPYVQPVGWCQENGRTLIAPQGYPNPENFSWTEYLEATQTNAVPAKVFKMRLPHGFLPNM
  KLEVVDKRNPRLIRVATIVDVDDQRVKVHFDGWDHKYDYWVEADSPDIHPIGWCDVTGHPLEVPQRTNDLKILPG
  QAVCPTPGCRGIGHIRGPRYSGHHSAFGCPYSDMNLKKEATLHDRLREQTQANLESDSSHSKSKSLCSLNFNGKH
  EKVNSQPRLVQQAKCLKIKGKEDIDLDNLFRVLVLHPRGLEYSVEQAQQVLHQSVSMSTVSAHPFRDLPLGREQH
  CKLLPGVADIRASQVARWTVDEVAEFVQSLLGCEEHAKCFKKEQIDGKAFLLLTQTDIVKVMKIKLGPALKIYNS
  ILMFRHSQELPEEDIASGQEVRG

• Structural information:
  • Protein Domains: (543..60-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR004092  IPR001660  IPR013761  IPR002515  
  • Prosite: PS51079 PS50105 PS51802
  • STRING: ENSP00000382976
• Other Databases: GeneCards:  L3MBTL4  Malacards:  L3MBTL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
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: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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq