PUM3: Pumilio RNA Binding Family Member 3
A conserved RNA-binding protein involved in post-transcriptional regulation, cell cycle control, and neurodevelopment.
Gene Information Card
| Symbol | PUM3 |
|---|---|
| Full Name | Pumilio RNA Binding Family Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p21.3 |
| NCBI Gene ID | 9933 ncbi.nlm.nih.gov/gene/9933 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9BQ77 |
| OMIM ID | 617539 |
| HGNC ID | 14999 |
| Aliases | PUM3, PUMH, PUM2, PUM3_HUMAN, KIAA0097 |
Description
PUM3 (Pumilio RNA Binding Family Member 3) encodes a member of the Pumilio family of RNA-binding proteins. These proteins contain a conserved Pumilio homology domain (PUM-HD) that binds specific RNA sequences in the 3' untranslated region (UTR) of target mRNAs, regulating their translation and stability. PUM3 is involved in cell cycle progression, stem cell maintenance, and neurodevelopment. It is ubiquitously expressed with highest levels in testis, brain, and lymphoid tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | PUM3 mutations may disrupt RNA regulation of neuronal genes, leading to intellectual disability and developmental delay. | ClinVar |
| Cancer (various) | PUM3 overexpression or mutation can alter cell cycle regulators (e.g., cyclins) and promote proliferation. | COSMIC |
| Male infertility | PUM3 is highly expressed in testis; variants may impair spermatogenesis. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain (cerebral cortex) | 22.1 | Medium |
| Lymph node | 18.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.4 | Embryonic kidney; high expression |
| HeLa | 20.1 | Cervical carcinoma; moderate |
| K562 | 15.8 | Leukemia; moderate |
| HepG2 | 12.3 | Hepatocellular carcinoma; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Alters RNA-binding affinity; associated with neurodevelopmental delay (ClinVar) |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Disrupts PUM-HD domain; loss of function (ClinVar) |
| c.890A>G (p.Gln297Arg) | Missense | 0.02% | Gain of function?; observed in breast cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense mutations in the PUM-HD domain that reduce RNA binding and destabilize target mRNAs.
Gain of Function (GOF)
Missense mutations that enhance RNA binding or alter target specificity, potentially driving oncogenesis.
Dominant Negative (DN)
Not well documented; some truncating mutations may interfere with wild-type PUM3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Post-transcriptional regulation by Pumilio proteins
• mRNA surveillance pathway
• Cell cycle regulation
Protein Summary
PUM3 is a 1062-amino acid RNA-binding protein with a C-terminal Pumilio homology domain composed of eight tandem repeats. It binds specifically to Nanos Response Elements (NRE) in target mRNAs, recruiting deadenylase complexes to promote mRNA decay or repress translation. PUM3 is essential for mitotic progression, stem cell self-renewal, and neuronal differentiation. Its dysregulation is linked to developmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUM3 Knockout HEK293 Cell Line | EDJ-KQ2178 | Human | 9933 | Details Get a Quote |
| PUM3 Knockout A-549 Cell Line | EDJ-KQ22393 | Human | 9933 | Details Get a Quote |
| PUM3 Knockout HCT 116 Cell Line | EDJ-KQ22394 | Human | 9933 | Details Get a Quote |
| PUM3 Knockout HeLa Cell Line | EDJ-KQ22395 | Human | 9933 | Details Get a Quote |
