Overview

Location [1]
Xq13.1
Protein [2]
Transcription initiation factor TFIID subunit 1
Synonyms [1]
CCGS, XDP, TAFII-250, MRXS33, DYT3, OF, TAF(II)250, TAFII250, CCG1, P250, DYT3/TAF1, N-TAF1, BA2R, NSCL2, TAF2A, KAT4

TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor (TAF1) is a gene that encodes a protein that functions as a transcriptional co-activator. The protein is also involved in the recognition of transcriptional promoters and the modification of general transcription factors (GTFs). Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

TAF1 is altered in 2.52% of all cancers with breast invasive ductal carcinoma, cutaneous melanoma, breast invasive lobular carcinoma, and mixed lobular and ductal breast carcinoma having the greatest prevalence of alterations [3].

TAF1 GENIE Cases - Top Diseases

The most common alterations in TAF1 are TAF1 Mutation (0.26%), TAF1 Amplification (0.02%), TAF1 C280S (0.01%), TAF1 Loss (0.01%), and TAF1 S439F (0.01%) [3].

TAF1 GENIE Cases - Top Alterations

Significance of TAF1 in Diseases

Melanoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Lymphoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Sarcoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.