STUB1 Chromosome 16
STIP1 homology and U-box containing protein 1
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What This Gene Does
This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"U-box domain containing|Tetratricopeptide repeat domain containing"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103266
Associated Conditions (5)
Autosomal recessive spinocerebellar ataxia 16
Inborn genetic diseases
Spinocerebellar ataxia 48
Autosomal dominant and autosomal recessive STUB1-related disorders
Ovarian serous cystadenocarcinoma
Key Variants
RS146251364
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 16, Inborn genetic diseases, Spinocerebellar ataxia 48
Health Risk
RS1555475529
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
Health Risk
RS2039704654
Conflicting classifications of pathogenicity
Health Risk
RS587777343
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16
Health Risk
RS751656037
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
Health Risk
RS757849639
Conflicting classifications of pathogenicity
Health Risk
RS764657057
Conflicting classifications of pathogenicity
Health Risk
RS770947195
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
Health Risk
RS779647632
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
Health Risk
RS1555475375
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
Health Risk
RS1555475794
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
Health Risk
RS1596549676
Likely pathogenic
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146251364 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 16, Inborn genetic diseases, Spinocerebellar ataxia 48 |
| RS1555475529 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2039704654 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777343 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16 |
| RS751656037 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS757849639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764657057 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770947195 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS779647632 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48 |
| RS1555475375 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS1555475794 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS1596549676 | Health Risk | Likely pathogenic | — |
| RS2151504167 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2151505158 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2151507049 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2543803363 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS369941408 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS587777347 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16 |
| RS690016544 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16 |
| RS760424025 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Ovarian serous cystadenocarcinoma |
| RS770730338 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS776620952 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS780883873 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS1567283195 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS2039633804 | Health Risk | Pathogenic | — |
| RS2039634238 | Health Risk | Pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2039691550 | Health Risk | Pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2039704195 | Health Risk | Pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2151504209 | Health Risk | Pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2151504570 | Health Risk | Pathogenic | — |
| RS2543803110 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS2543805016 | Health Risk | Pathogenic | — |
| RS587777340 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS587777341 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS587777342 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS587777345 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS587777346 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS1555475283 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16 |
| RS1732133553 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48 |
| RS2039704361 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS2151507113 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS587777344 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16 |
| RS748984540 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 48, Spinocerebellar ataxia 48 |
| RS754446573 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48 |