TCOF1

Chr 5q32-q33.1

treacle ribosome biogenesis factor 1

Aliases:: treacle, TCS
MANE:: ENST00000643257.2

OMIM: 606847 ↗NCBI: 6949 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TCOF1 · Q13428

v62025-08-01

Predicted Aligned Error matrix for TCOF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

41.3/ 100

Very low

1,488 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)5%
Low(50–70)5%
Very low(< 50)89%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

Treacher Collins syndrome 1
0.76
Treacher-Collins syndrome
0.71
hereditary disease
0.47
neurodegenerative disease
0.46
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
0.27
alopecia areata
0.25
lysosomal storage disease
0.23
Hearing impairment
0.12
microcephaly
0.11
cancer
0.08

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

Protein function (UniProt)

Treacle protein

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832)