PUM1 Gene - Pumilio RNA Binding Family Member 1
Key regulator of mRNA stability and translational control in development and disease
Gene Information Card
| Symbol | PUM1 |
|---|---|
| Full Name | Pumilio RNA Binding Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 9698 ncbi.nlm.nih.gov/gene/9698 |
| Ensembl ID | ENSG00000134644 |
| UniProt ID | Q14671 |
| OMIM ID | 607204 |
| HGNC ID | 14957 |
| Aliases | PUMH, PUM1_HUMAN, HSPUM, PUM1v1 |
Description
PUM1 encodes a member of the Pumilio family of RNA-binding proteins, which function as post-transcriptional regulators by binding to specific sequences in the 3' untranslated regions (UTRs) of target mRNAs, thereby repressing translation and promoting mRNA decay. PUM1 is involved in diverse biological processes including germ cell development, neuronal differentiation, and cell cycle control. Mutations in PUM1 are associated with spinocerebellar ataxia type 47 (SCA47) and developmental delay with or without seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 47 (SCA47) | Haploinsufficiency due to loss-of-function mutations leads to impaired regulation of target mRNAs involved in cerebellar function | ClinVar, OMIM |
| Developmental delay with or without seizures | Missense mutations (e.g., p.Thr1035Met) cause dominant-negative effects disrupting RNA binding and regulation | ClinVar, OMIM |
| Primary ovarian insufficiency | PUM1 regulates mRNAs essential for oocyte development; reduced expression linked to premature ovarian failure | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Ovary | 9.5 | Low |
| Heart | 7.3 | Low |
| Liver | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cells |
| SH-SY5Y | 11.2 | Neuroblastoma cells |
| HeLa | 9.8 | Cervical carcinoma cells |
| K562 | 6.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3104C>T (p.Thr1035Met) | Missense | Rare | Dominant-negative; reduces RNA binding affinity |
| c.2806C>T (p.Arg936*) | Nonsense | Rare | Loss-of-function; leads to nonsense-mediated decay |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss-of-function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause haploinsufficiency, linked to SCA47 and developmental delay.
Gain of Function (GOF)
Not reported for PUM1.
Dominant Negative (DN)
Missense mutations like p.Thr1035Met impair RNA binding and disrupt wild-type function, associated with developmental disorders.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA 3'-UTR binding |
| • regulation of translation | • mRNA catabolic process |
| • germ cell development | • nervous system development |
Pathways
• mRNA surveillance pathway
• Regulation of mRNA stability by RNA-binding proteins
Protein Summary
PUM1 is a 1,206-amino acid RNA-binding protein containing a conserved Pumilio homology domain (PUM-HD) composed of eight tandem repeats that recognize specific RNA sequences (UGUANAUA). It forms complexes with other proteins such as DAZL and NANOS to repress translation of target mRNAs. PUM1 is widely expressed, with highest levels in brain and reproductive tissues. Structural studies show that the PUM-HD binds RNA in a sequence-specific manner, and mutations in this domain disrupt target recognition, leading to neurological and reproductive phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUM1 Knockout HEK293 Cell Line | EDJ-KQ6698 | Human | 9698 | Details Get a Quote |
| PUM1 Knockout A-549 Cell Line | EDJ-KQ31055 | Human | 9698 | Details Get a Quote |
| PUM1 Knockout HCT 116 Cell Line | EDJ-KQ31056 | Human | 9698 | Details Get a Quote |
| PUM1 Knockout HeLa Cell Line | EDJ-KQ31057 | Human | 9698 | Details Get a Quote |
