PWWP3A Gene
PWWP Domain Containing 3A
Gene Information Card
| Symbol | PWWP3A |
|---|---|
| Full Name | PWWP domain containing 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 29951 ncbi.nlm.nih.gov/gene/29951 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9H0E2 |
| OMIM ID | 610311 |
| HGNC ID | 29141 |
| Aliases | MUM1, MUM-1, FLJ20032 |
Description
PWWP3A (PWWP domain containing 3A), also known as MUM1, encodes a protein with a PWWP domain involved in chromatin binding and transcriptional regulation. The gene is located on chromosome 1p36.11 and is associated with multiple myeloma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | Overexpression and fusion events (e.g., IGH-MUM1) drive oncogenesis | PMID: 10615123, COSMIC |
| Diffuse Large B-Cell Lymphoma | Rearrangements involving PWWP3A/MUM1 contribute to lymphomagenesis | PMID: 11861292 |
| Melanoma | MUM1 expression is a diagnostic marker for melanocytic lesions | PMID: 15322561 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Low |
| Testis | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | Moderate expression |
| HeLa (cervical) | 7.8 | Low expression |
| HepG2 (liver) | 5.4 | Low expression |
| A549 (lung) | 3.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional effect |
| IGH-MUM1 fusion | Structural variant | Rare in multiple myeloma | Oncogenic activation |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
IGH-MUM1 fusion leads to overexpression, acting as a gain-of-function in multiple myeloma.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • regulation of transcription (GO:0006355) |
| • histone binding (GO:0042393) |
Pathways
• Not assigned to any canonical KEGG or Reactome pathway.
Protein Summary
The PWWP3A protein contains a PWWP domain that mediates binding to methylated histones and DNA, suggesting a role in chromatin remodeling and transcriptional regulation. It is predominantly expressed in lymphoid tissues and is implicated in multiple myeloma and lymphoma through chromosomal rearrangements.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PWWP3A Knockout HEK293 Cell Line | EDJ-KQ10278 | Human | 84939 | Details Get a Quote |
| PWWP3A Knockout A-549 Cell Line | EDJ-KQ37525 | Human | 84939 | Details Get a Quote |
| PWWP3A Knockout HCT 116 Cell Line | EDJ-KQ37526 | Human | 84939 | Details Get a Quote |
| PWWP3A Knockout HeLa Cell Line | EDJ-KQ37527 | Human | 84939 | Details Get a Quote |
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