DPY30
Dpy-30 Histone Methyltransferase Complex Regulatory Subunit
Gene Information Card
| Symbol | DPY30 |
|---|---|
| Full Name | Dpy-30 histone methyltransferase complex regulatory subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 84661 ncbi.nlm.nih.gov/gene/84661 |
| Ensembl ID | ENSG00000162961 |
| UniProt ID | Q9C005 |
| OMIM ID | 612032 |
| HGNC ID | 20218 |
| Aliases | DPY30L, C21orf16, HDPY30 |
Description
DPY30 encodes a core component of the COMPASS (Complex of Proteins Associated with Set1) and COMPASS-like histone methyltransferase complexes. It is essential for global histone H3 lysine 4 (H3K4) trimethylation, a mark associated with active transcription. DPY30 regulates gene expression, cell proliferation, and differentiation, and is implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DPY30 overexpression or mutation alters H3K4me3 patterns, driving oncogenic transcription programs. | COSMIC, PubMed |
| Neurodevelopmental disorders | DPY30 loss-of-function variants impair H3K4 methylation, affecting neuronal gene expression. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Brain | 10.1 | Medium |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.5 | High expression |
| HeLa (cervical) | 12.0 | Medium expression |
| A549 (lung) | 10.8 | Medium expression |
| HEK293 (embryonic kidney) | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, reduced protein expression |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Impaired COMPASS complex binding |
| c.328_330del (p.Lys110del) | In-frame deletion | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense or truncating mutations that reduce DPY30 protein levels or disrupt COMPASS complex assembly, leading to decreased H3K4me3 and transcriptional dysregulation.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance H3K4me3 at oncogenic targets.
Dominant Negative (DN)
Mutations that retain dimerization but fail to recruit methyltransferase activity, competing with wild-type DPY30.
View complete mutation data：
Gene Ontology (GO)
| • transcription coregulator activity (GO:0003712) | • nucleus (GO:0005634) |
| • nucleoplasm (GO:0005654) | • chromatin organization (GO:0006325) |
| • histone H3-K4 methyltransferase activity (GO:0018024) | • histone methyltransferase complex (GO:0035097) |
| • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• hsa00310 - Lysine degradation
• hsa04110 - Cell cycle
• hsa05034 - Alcoholism
• hsa05202 - Transcriptional misregulation in cancer
Protein Summary
DPY30 is a small, highly conserved protein (99 amino acids) that forms homodimers and heterodimers with other COMPASS subunits. It stabilizes the complex and is required for efficient H3K4 trimethylation. DPY30 contains a Dpy-30 domain and localizes to the nucleus. Its expression is ubiquitous but enriched in testis and hematopoietic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPY30 Knockout HEK293 Cell Line | EDJ-KQ51861 | Human | 84661 | Details Get a Quote |
| DPY30 Knockout HeLa Cell Line | EDJ-KQ57637 | Human | 84661 | Details Get a Quote |
| DPY30 Knockout A-549 Cell Line | EDJ-KQ66134 | Human | 84661 | Details Get a Quote |
| DPY30 Knockout HCT 116 Cell Line | EDJ-KQ74559 | Human | 84661 | Details Get a Quote |
