YTHDC1

Description

The YTHDC1 (YTH N6-methyladenosine RNA binding protein C1) is a protein-coding gene located on chromosome 4.

YTH domain-containing protein 1 is a protein that in humans is encoded by the YTHDC1 gene. YTHDC1 is a nuclear protein involved in splice site selection that localises to YT bodies; dynamic subnuclear compartments, which first appear at the beginning of S-phase in the cell cycle and disperse during mitosis.

== Interactions == YTHDC1 has been shown to interact with:

Abl gene, C-src tyrosine kinase, Emerin, KHDRBS1. and Metadherin

== Role in disease == Alternative splicing is altered in a number of diseases and is particularly relevant to cancer.

=== Cancer === YTHDC1 has been shown to splice mRNA transcripts which have oncological importance, regulating tumour functions such as hypoxia associated vascular endothelial growth factor (VEGF), DNA damage associated breast cancer 1 (BRCA1) and hormonal growth driver; the progesterone receptor (PGR). In prostate cancer, YTHDC1 has also been shown to interact with the protein metadherin, encoded by the oncogene MTDH acting to influence alternative splicing of tumour-related genes such as CD44.

YTHDC1, also known as Splicing factor YT521, is a key regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. m6A is a modification found in internal sites of mRNAs and some non-coding RNAs, influencing mRNA splicing, processing, and stability. YTHDC1 interacts with splicing factors SRSF3 and SRSF10 to control exon inclusion or skipping during alternative splicing. It binds m6A-containing mRNAs and recruits SRSF3 to adjacent mRNA-binding elements, leading to exon inclusion. Conversely, YTHDC1's interaction with SRSF3 prevents SRSF10 binding, inhibiting exon skipping. YTHDC1 may also regulate alternative splice site selection. Additionally, YTHDC1 participates in the nuclear export of m6A-containing mRNAs by facilitating their binding to SRSF3 and NXF1. YTHDC1 plays a role in S-adenosyl-L-methionine homeostasis by regulating MAT2A transcript expression through binding to m6A-containing MAT2A mRNAs. It also recognizes and binds m6A on other RNA molecules, including Xist RNA, promoting its transcription repression activity during random X inactivation. Furthermore, YTHDC1 binds m6A-containing single-stranded DNA and is essential for spermatogonial development in males and oocyte growth and maturation in females, likely through its role in alternative splicing.

YTHDC1 is also known as YT521, YT521-B.

Associated Diseases

WES Whole Exome Sequencing