YTHDC1

YTH domain-containing protein 1 is a protein that in humans is encoded by the YTHDC1 gene.^[5][6][7] 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.^[8]

YTHDC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YUD, 4R3H, 4R3I
Identifiers
Aliases	YTHDC1, YT521, YT521-B, YTH domain containing 1
External IDs	OMIM: 617283; MGI: 2443713; HomoloGene: 15796; GeneCards: YTHDC1; OMA:YTHDC1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q13.2 Start 68,310,387 bp[1] End 68,350,090 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 E1 Start 86,952,080 bp[2] End 86,984,518 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon corpus callosum sural nerve left ovary bone marrow endometrium ventricular zone right ovary right lung vagina Top expressed in medullary collecting duct conjunctival fornix renal corpuscle cumulus cell ureter ciliary body pineal gland vestibular membrane of cochlear duct Rostral migratory stream Paneth cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding N6-methyladenosine-containing RNA binding Cellular component nucleus nuclear speck plasma membrane nucleoplasm Biological process mRNA processing mRNA splice site selection RNA splicing regulation of mRNA splicing, via spliceosome mRNA export from nucleus dosage compensation by inactivation of X chromosome posttranscriptional regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 91746 231386 Ensembl ENSG00000275272 ENSG00000083896 ENSMUSG00000035851 UniProt Q96MU7 E9Q5K9 RefSeq (mRNA) NM_001031732 NM_133370 NM_001330698 NM_177680 NM_001347375 NM_001347376 NM_001359907 NM_001359908 RefSeq (protein) NP_001026902 NP_001317627 NP_588611 NP_001334304 NP_001334305 NP_808348 NP_001346836 NP_001346837 Location (UCSC) Chr 4: 68.31 – 68.35 Mb Chr 5: 86.95 – 86.98 Mb PubMed search [3] [4]
Wikidata
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Interactions

YTHDC1 has been shown to interact with:

• Abl gene,^[9]
• C-src tyrosine kinase,^[9]
• Emerin,^[10]
• KHDRBS1.^[6] and
• Metadherin^[11]

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).^[12][13]

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.^[11][14]

See also

N⁶-Methyladenosine