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TAF1C

Chr 16q24.1

TATA-box binding protein associated factor, RNA polymerase I subunit C

Aliases:
TAFI110, TAFI95, SL1, MGC:39976
MANE:
ENST00000566732.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.46
  • Global developmental delay

    0.19
  • Intellectual disability

    0.18
  • Seizure

    0.18
  • Strabismus

    0.18
  • Spasticity

    0.18
  • primary ciliary dyskinesia

    0.12
  • Hematemesis

    0.05
  • ovarian dysfunction

    0.05
  • type 2 diabetes mellitus

    0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

TATA box-binding protein-associated factor RNA polymerase I subunit C

Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.