Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000113

Gene Ontology annotation of human sequence-specific DNA binding transcription factors (DbTFs) based on the TFClass database

PMID:28017370

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Human EBF3 activated a Cd79a-linked surface-IgM readout at low/intermediate dosage; high WT dosage reduced the response, and tested mutants retained WT association in tagged co-IP.

PMID:28017372

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

The deposited human Short-product templates supported a controlled HEK293 COE-site reporter assay; WT and variant constructs were separately evaluated by tagged fly complementation.

PMID:28017373

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Human WT EBF3 was nuclear and chromatin associated in the tested cell systems, activated a CDKN1A reporter and showed cis-regulatory binding linked to transcriptional changes.

PMID:20592035

Structural determination of functional domains in early B-cell factor (EBF) family of transcription factors reveals similarities to Rel DNA-binding proteins and a novel dimerization motif.

Human EBF3 TIG-HLH/HLHLH structures support a dimeric helical architecture, distinct from the EBF1 DNA-binding-domain structural experiments.