AutismKB 2.0

Annotation Details for TAF1L


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Basic Information Top
Gene Symbol:TAF1L ( MGC134910,TAF2A2 )
Gene Full Name: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like
Band: 9p21.1
Quick LinksEntrez ID:138474; OMIM: 607798; Uniprot ID:TAF1L_HUMAN; ENSEMBL ID: ENSG00000122728; HGNC ID: 18056
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005654TAS-nucleoplasm-
GO:0005669IBA-transcription factor TFIID complex-
GO ID Evidence Qualifier GO_term References
GO:0001075IBAcontributes_totranscription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly-
GO:0001129IBA-RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly-
GO:0004402IBA-histone acetyltransferase activity-
GO:0004402ISS-histone acetyltransferase activity12217962
GO:0004674ISS-protein serine/threonine kinase activity12217962
GO:0017025IPI-TBP-class protein binding12217962
GO:0043565IBA-sequence-specific DNA binding-
GO:0070577IDA-lysine-acetylated histone binding22464331
GO ID Evidence Qualifier GO_term References
GO:0006357IDA-regulation of transcription from RNA polymerase II promoter12217962
GO:0006366TAS-transcription from RNA polymerase II promoter-
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0006368TAS-transcription elongation from RNA polymerase II promoter-
GO:0006468IEA-protein phosphorylation-
GO:0007140IEP-male meiotic nuclear division12217962
GO:0016573IEA-histone acetylation-
GO:0045893IDA-positive regulation of transcription, DNA-templated12217962
GO:0045944IBA-positive regulation of transcription from RNA polymerase II promoter-
GO:0051123IEA-RNA polymerase II transcriptional preinitiation complex assembly-
GO:1901796TAS-regulation of signal transduction by p53 class mediator-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TAF1LTBP12651412217962 Two-hybrid
TAF1LTBP11277112217962 Two-hybrid
TAF1LTBPL112651417643375 Affinity Capture-MS
TAF1LTBPL111489617643375 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top

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