AutismKB 2.0

Annotation Details for L3MBTL1


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Basic Information Top
Gene Symbol:L3MBTL1 ( DKFZp586P1522,FLJ41181,H-L(3)MBT,KIAA0681,L3MBTL,dJ138B7.3 )
Gene Full Name: l(3)mbt-like 1 (Drosophila)
Band: 20q13.12
Quick LinksEntrez ID:26013; OMIM: 608802; Uniprot ID:LMBL1_HUMAN; ENSEMBL ID: ENSG00000185513; HGNC ID: 15905
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000785IDA-chromatin18408754
GO:0000793IDA-condensed chromosome10445843
GO:0005634IDA-nucleus10445843
GO:0005654IDA-nucleoplasm10445843
GO:0005654TAS-nucleoplasm-
GO:0005730IDANOTnucleolus10445843
GO:0005886IDA-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0003682IDA-chromatin binding18408754
GO:0003700IEA-transcription factor activity, sequence-specific DNA binding-
GO:0005515IPI-protein binding12588862
GO:0008270IEA-zinc ion binding-
GO:0031491IDA-nucleosome binding17540172
GO:0031493IDA-nucleosomal histone binding17540172
GO:0032093IPI-SAM domain binding12588862
GO:0035064IDA-methylated histone binding19144645
GO:0035064IPI-methylated histone binding17540172
GO:0042393IPI-histone binding17540172
GO:0042802IPI-identical protein binding12588862
GO ID Evidence Qualifier GO_term References
GO:0006325IDA-chromatin organization17540172
GO:0006351IEA-transcription, DNA-templated-
GO:0007088IMP-regulation of mitotic nuclear division10445843
GO:0016569IEA-covalent chromatin modification-
GO:0030097IEP-hemopoiesis15334543
GO:0045652IDA-regulation of megakaryocyte differentiation18474616
GO:0045892IDA-negative regulation of transcription, DNA-templated17540172
GO:0045892IMP-negative regulation of transcription, DNA-templated12588862
GO:0051726NAS-regulation of cell cycle15566354
GO:1901796TAS-regulation of signal transduction by p53 class mediator-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
L3MBTL1ETV611748612588862 Affinity Capture-Western; Reconstituted Complex
L3MBTL1ETV610842112588862 Affinity Capture-Western; Reconstituted Complex
L3MBTL1HIST1H1E10926319144645 Co-purification
L3MBTL1HIST1H1E11748619144645 Co-purification
L3MBTL1RB111186017540172 Affinity Capture-Western
L3MBTL1RB111748617540172 Affinity Capture-Western
L3MBTL1HIST2H4A11396618026117 Co-crystal Structure
L3MBTL1HIST2H4A11748618026117 Co-crystal Structure
L3MBTL1CBX311646317540172 Affinity Capture-Western; Reconstituted Complex
L3MBTL1CBX311748617540172 Affinity Capture-Western; Reconstituted Complex
L3MBTL1CBX511703017540172 Affinity Capture-Western
L3MBTL1CBX511748617540172 Affinity Capture-Western
L3MBTL1L3MBTL111748612588862 Affinity Capture-Western
ETV7L3MBTL111958112588862 Affinity Capture-Western
ETV7L3MBTL111748612588862 Affinity Capture-Western
SETD7L3MBTL112333218408754 Affinity Capture-Western; Reconstituted Complex
SETD7L3MBTL111748618408754 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2676663
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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