Gene
STUB1
STIP1 homology and U-box containing protein 1
- HGNC 11427(opens in a new tab)
- Ensembl gene ENSG00000103266(opens in a new tab)
- NCBI Gene 10273(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 680,410–682,801 (GRCh38)
- Exons
- 7 exons across 2.4 kb
- Protein
- 303 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- UBOX1, CHIP, SDCCAG7, HSPABP2, NY-CO-7
- MANE Select transcript
- ENST00000219548.9NM_005861.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How STUB1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.3 kb of the gene's 2.4 kb; 912 of those bases code for the protein.
How a genome test reads STUB1
35
positions in STUB1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 2.4 kb of STUB1, introns included, not only the 1.3 kb of exons.
Traits linked to STUB1
The Human Phenotype Ontology lists these as features of the rare conditions STUB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Degeneration of cerebellum
- Depression
- Difficulty articulating speech
- Instability or lack of coordination of central trunk muscles
- Limb ataxia
- Mental deterioration
- Abnormal gait
Show 30 more traits
- Abnormal motor evoked potentials
- Anxiety
- Babinski sign
- Balance impairment
- Chorea
- Cognitive impairment
- Dystonia
- Grand mal seizures
- Impaired proprioception
- Increased reflexes
- Parkinsonism
- Unsteady walk
- Abnormal speech pattern
- Corpus callosum atrophy
- Global developmental delay
- Hand tremor
- Head tremor
- Hyperactive deep tendon reflexes
- Hypoplasia of the pons
- Inability to coordinate movements when walking
- Memory impairment
- Parietal cortical atrophy
- Postural tremor
- Small cerebellum
- Speech apraxia
- Tremor
- Epilepsy
- Difficulty staying or falling asleep
- Irritability
- Lack of coordination of movement
Abnormality of the eye
- Involuntary, rapid, rhythmic eye movements
- Paralysis or weakness of muscles within or surrounding outer part of eye
- Eye muscle paralysis
- Gaze-evoked nystagmus
- Horizontal nystagmus
- Abnormal involuntary eye movements
- Glaucoma
- Iridocyclitis
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). STUB1 gene: STIP1 homology and U-box containing protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/stub1
Dante Labs. STUB1 gene: STIP1 homology and U-box containing protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stub1
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