PUM1 Chromosome 1
Pumilio RNA binding family member 1
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What This Gene Does
This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pumilio homology domain containing|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
1p35.2
Ensembl
ENSG00000134644
Associated Conditions (11)
Spinocerebellar ataxia 47
Global developmental delay
Seizure
Intellectual disability
Neurodevelopmental disorder
Inborn genetic diseases
PUM1-associated developmental disability-ataxia-seizure syndrome
Late-onset spinocerebellar ataxia
Spastic ataxia
Neurodevelopmental delay
PUM1-related disorder
Key Variants
RS1643312973
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 47, Global developmental delay, Seizure
Health Risk
RS2124378402
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Spinocerebellar ataxia 47, Neurodevelopmental disorder
Health Risk
RS2521714324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia 47, PUM1-associated developmental disability-ataxia-seizure syndrome
Health Risk
RS769056716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia 47, Inborn genetic diseases
Health Risk
RS771145682
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 47, Late-onset spinocerebellar ataxia, Spinocerebellar ataxia 47
Health Risk
RS1557541619
Likely pathogenic
Spinocerebellar ataxia 47, PUM1-associated developmental disability-ataxia-seizure syndrome, Spinocerebellar ataxia 47
Health Risk
RS1640042273
Likely pathogenic
Health Risk
RS1640658015
Likely pathogenic
Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
Health Risk
RS1644321851
Likely pathogenic
Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
Health Risk
RS2124008235
Likely pathogenic
Spastic ataxia, Spastic ataxia
Health Risk
RS2124510562
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2521564145
Likely pathogenic
PUM1-related disorder, PUM1-related disorder
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1643312973 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 47, Global developmental delay, Seizure |
| RS2124378402 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Spinocerebellar ataxia 47, Neurodevelopmental disorder |
| RS2521714324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia 47, PUM1-associated developmental disability-ataxia-seizure syndrome |
| RS769056716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia 47, Inborn genetic diseases |
| RS771145682 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 47, Late-onset spinocerebellar ataxia, Spinocerebellar ataxia 47 |
| RS1557541619 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 47, PUM1-associated developmental disability-ataxia-seizure syndrome, Spinocerebellar ataxia 47 |
| RS1640042273 | Health Risk | Likely pathogenic | — |
| RS1640658015 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 47, Spinocerebellar ataxia 47 |
| RS1644321851 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 47, Spinocerebellar ataxia 47 |
| RS2124008235 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS2124510562 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2521564145 | Health Risk | Likely pathogenic | PUM1-related disorder, PUM1-related disorder |
| RS868087579 | Health Risk | Likely pathogenic | — |
| RS1639458746 | Health Risk | Pathogenic | Spinocerebellar ataxia 47, Spinocerebellar ataxia 47 |
| RS1640047087 | Health Risk | Pathogenic | — |
| RS2124008285 | Health Risk | Pathogenic | Spinocerebellar ataxia 47, Spinocerebellar ataxia 47 |
| RS2521450288 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2521806004 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1557539450 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 47, Inborn genetic diseases, PUM1-associated developmental disability-ataxia-seizure syndrome |