HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PUM1
pumilio RNA binding family member 1
Chromosome 1 Β· 1p35.2
NCBI Gene: 9698Ensembl: ENSG00000134644.17HGNC: HGNC:14957UniProt: Q14671
174PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
post-transcriptional regulation of gene expressionRNA bindingmRNA 3'-UTR bindingprotein bindingspinocerebellar ataxia 47neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismgenetic disorderneurodegenerative disease
✦AI Summary

PUM1 (Pumilio RNA binding family member 1) is a sequence-specific RNA-binding protein that functions as a post-transcriptional repressor by binding to the 3'-UTR of target mRNAs through the Pumilio Response Element (PRE) consensus sequence 5'-UGUANAUA-3' 1. PUM1 regulates gene expression through multiple mechanisms, including direct recruitment of deadenylase complexes for mRNA degradation and facilitating miRNA accessibility to target sites 1. The protein plays critical roles in cellular processes including cell cycle regulation, aging, and immune responses. PUM1 suppresses cellular senescence by downregulating TLR4 mRNA translation, thereby inhibiting NF-ΞΊB signaling pathways 2. In cancer contexts, PUM1 promotes tumor progression through multiple pathways: it stabilizes DEPTOR mRNA to activate glycolysis in gastric cancer 3, suppresses p21 expression to promote colorectal cancer growth 4, and facilitates immune escape by regulating the NPM3/NPM1/PD-L1 axis 5. Clinically, PUM1 mutations cause neurodevelopmental disorders, with haploinsufficiency leading to developmental delay and seizures (PADDAS syndrome), while milder mutations result in adult-onset cerebellar ataxia 1. The protein's dysfunction is also implicated in recurrent miscarriage and intervertebral disc degeneration 67.

Sources cited
1
PUM1 binds to 3'-UTR through PRE sequence and causes neurological disorders when mutated
PMID: 29474920
2
PUM1 suppresses cellular aging by downregulating TLR4 and NF-ΞΊB signaling
PMID: 35034101
3
PUM1 promotes gastric cancer by stabilizing DEPTOR mRNA and activating glycolysis
PMID: 37469018
4
PUM1 promotes colorectal cancer growth by suppressing p21 expression
PMID: 35338151
5
PUM1 facilitates immune escape through NPM3/NPM1/PD-L1 axis regulation
PMID: 38029539
6
PUM1 is implicated in recurrent miscarriage as a macrophage marker gene
PMID: 36439123
7
PUM1 involvement in intervertebral disc degeneration through NORAD regulation
PMID: 35304463
Disease Associationsβ“˜21
spinocerebellar ataxia 47Open Targets
0.75Strong
neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
hypertensionOpen Targets
0.29Weak
Neurodevelopmental delayOpen Targets
0.27Weak
spastic ataxiaOpen Targets
0.27Weak
muscular diseaseOpen Targets
0.23Weak
hidradenitisOpen Targets
0.23Weak
metabolic syndromeOpen Targets
0.21Weak
epilepsyOpen Targets
0.19Weak
goutOpen Targets
0.13Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismUniProt
Pathogenic Variants23
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)Pathogenic
Spinocerebellar ataxia 47|not provided|Inborn genetic diseases|PUM1-associated developmental disability-ataxia-seizure syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1147
GRCh38/hg38 1p35.2(chr1:30936422-30948423)x3Pathogenic
Spinocerebellar ataxia 47
β˜…β˜†β˜†β˜†2026
NM_001020658.2(PUM1):c.1544dup (p.Asn516fs)Likely pathogenic
Spinocerebellar ataxia 47
β˜…β˜†β˜†β˜†2025β†’ Residue 516
NM_001020658.2(PUM1):c.2764C>T (p.Arg922Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 922
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)Likely pathogenic
Spinocerebellar ataxia 47|PUM1-associated developmental disability-ataxia-seizure syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1139
NM_001020658.2(PUM1):c.2452C>T (p.Arg818Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 818
NM_001020658.2(PUM1):c.517C>T (p.Arg173Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 173
NM_001020658.2(PUM1):c.2264_2291dup (p.Ser765fs)Likely pathogenic
PUM1-associated developmental disability-ataxia-seizure syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 765
NM_001020658.2(PUM1):c.3202C>T (p.Arg1068Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1068
NM_001020658.2(PUM1):c.364-2A>GLikely pathogenic
Spinocerebellar ataxia 47
β˜…β˜†β˜†β˜†2024
NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 834
NM_001020658.2(PUM1):c.1876C>T (p.Gln626Ter)Likely pathogenic
PUM1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 626
NM_001020658.2(PUM1):c.1738C>T (p.Arg580Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 580
NM_001020658.2(PUM1):c.1159del (p.Leu387fs)Pathogenic
PUM1-associated developmental disability-ataxia-seizure syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 387
NM_001020658.2(PUM1):c.221G>A (p.Arg74His)Likely pathogenic
Spastic ataxia
β˜…β˜†β˜†β˜†2021β†’ Residue 74
NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 323
NM_001020658.2(PUM1):c.2352C>G (p.Tyr784Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 784
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)Pathogenic
Spinocerebellar ataxia 47
β˜…β˜†β˜†β˜†2020β†’ Residue 72
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)Likely pathogenic
Spinocerebellar ataxia 47
β˜…β˜†β˜†β˜†2020β†’ Residue 16
NM_001020658.2(PUM1):c.2518C>T (p.Arg840Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 840
View on ClinVar β†—
Related Genes
CNOT7Protein interaction100%NANOS1Protein interaction99%CLINT1Protein interaction82%SH3D19Protein interaction82%RBFOX2Protein interaction81%ANKRD17Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
92%
Heart
70%
Ovary
65%
Lung
48%
Liver
45%
Gene Interaction Network
Click a node to explore
PUM1CNOT7NANOS1CLINT1SH3D19RBFOX2ANKRD17
PROTEIN STRUCTURE
Preparing viewer…
PDB1IB2 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.07–0.17]
RankingsWhere PUM1 stands among ~20K protein-coding genes
  • #2,530of 20,598
    Most Researched174 Β· top quartile
  • #2,041of 5,498
    Most Pathogenic Variants23
  • #273of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedPUM1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
TLR4 downregulation by the RNA-binding protein PUM1 alleviates cellular aging and osteoarthritis.
PMID: 35034101
Cell Death Differ Β· 2022
1.00
2
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments.
PMID: 37479376
Lancet Neurol Β· 2023
0.90
3
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
PMID: 29474920
Cell Β· 2018
0.80
4
WTAP-mediated m
PMID: 35304463
Nat Commun Β· 2022
0.70
5
Hepatocyte-derived Pumilio1-enriched exosomes inhibit HSC activation by suppressing tropomyosin-4 translation.
PMID: 40689527
Hepatol Commun Β· 2025
0.68