RBPJ (human, Q06330) review notes

Identity

• CSL / CBF1 / Su(H) ortholog. PANTHER PTHR10665 (RECOMBINING BINDING PROTEIN SUPPRESSOR OF HAIRLESS).
• IBA nodes: DNA-binding TF activity, cis-regulatory DNA binding, nucleus PTN000071433; Notch signaling pathway and MAML1-RBP-Jkappa-ICN1 complex PTN002580211.

Key findings

• Repressor by default: binds CIR PMID:9874765, SMRT/NCOR2 PMID:10713164, SHARP/SPEN -> CtIP/CtBP PMID:16287852, L3MBTL3-KDM1A PMID:29030483.
• Activator with NICD and MAML: crystal structure of CSL-ANK-MAML1 on DNA PMID:16530044; cooperative dimers on paired sites PMID:17284587.
• RITA1 exports RBPJ from nucleus PMID:21102556.
• Pharmacological disruption of the complex (SAHM1 PMID:19907488, CB-103 PMID:32601208).
• COX4I2 oxygen responsive element activation PMID:23303788.
• EBV EBNA2/EBNA3 target RBPJ PMID:8627785.

Decisions

• Core: GO:0000981 DNA-binding TF activity RNAPII-specific; GO:0000978; complexes GO:1990433/GO:0002193; processes GO:0000122, GO:0007221, GO:0007219.
• protein binding: NICD/MAML1/SNW1 -> transcription coactivator binding (GO:0001223); corepressors -> transcription corepressor binding (GO:0001222); viral, p53, KCTD1, RITA1, AP-MS hits -> REMOVE.
• GO:0061629 with SPEN -> MODIFY to corepressor binding.
• Mouse cardiac/vascular development terms non-core; BMP/ERBB/ephrin positive regulation and "regulation of generation of precursor metabolites" over-annotated.

Variant-relevant biology

• CSL is the single DNA-binding effector; "default repression" mode; repressor partners differ by lineage (SPEN/SHARP in mammals vs Hairless in Drosophila).

Deep research

• Falcon deep research completed: file:human/RBPJ/RBPJ-deep-research-falcon.md (first attempt timed out at the 600 s wrapper default; rerun with --timeout 2700). Key statements quoted in the review are verbatim from that file.