UTY (Ubiquitously Transcribed Tetratricopeptide Repeat Containing, Y-Linked)
Y-chromosome gene with roles in male development and cancer
Gene Information Card
| Symbol | UTY |
|---|---|
| Full Name | Ubiquitously Transcribed Tetratricopeptide Repeat Containing, Y-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.221 |
| NCBI Gene ID | 7404 ncbi.nlm.nih.gov/gene/7404 |
| Ensembl ID | ENSG00000183878 |
| UniProt ID | O14607 |
| OMIM ID | 400009 |
| HGNC ID | 12636 |
| Aliases | KDM6AL, UTY1 |
Description
UTY is a Y-linked gene encoding a histone demethylase that specifically demethylates lysine 27 of histone H3 (H3K27me3). It is ubiquitously expressed and plays a role in male development, immune regulation, and cancer. UTY is homologous to the X-linked gene KDM6A (UTX) and escapes X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Turner syndrome | Haploinsufficiency of Y-linked genes including UTY may contribute to phenotypic features | OMIM |
| Gonadoblastoma | UTY deletion or mutation associated with Y-chromosome mosaicism | NCBI Gene |
| Prostate cancer | UTY expression loss linked to tumor progression and immune evasion | COSMIC |
| Bladder cancer | UTY mutations identified in urothelial carcinoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.2 | Low |
| Kidney | 7.1 | Low |
| Lung | 6.8 | Low |
| Brain | 4.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 7.5 | Cervical carcinoma |
| K562 | 6.2 | Leukemia |
| HepG2 | 5.9 | Liver carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Loss of demethylase activity |
| c.567_568del | Frameshift | 0.005% | Truncated protein |
| c.890G>A | Nonsense | 0.003% | Premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to loss of demethylase activity, impairing H3K27me3 regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • histone H3K27 demethylase activity | • chromatin binding |
| • nucleus | • regulation of transcription |
| • DNA-templated |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by histone demethylation
Protein Summary
UTY is a 1347-amino acid protein containing a JmjC domain responsible for demethylating H3K27me3. It is part of the histone demethylase family and interacts with chromatin remodeling complexes to regulate gene expression. UTY is ubiquitously expressed but shows highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UTY Knockout HEK293 Cell Line | EDJ-KQ6005 | Human | 7404 | Details Get a Quote |
| UTY Knockout A-549 Cell Line | EDJ-KQ29611 | Human | 7404 | Details Get a Quote |
| UTY Knockout HCT 116 Cell Line | EDJ-KQ29612 | Human | 7404 | Details Get a Quote |
| UTY Knockout HeLa Cell Line | EDJ-KQ54735 | Human | 7404 | Details Get a Quote |
