Gene
UGGT1
UDP-glucose glycoprotein glucosyltransferase 1
- HGNC 15663↗(opens in a new tab)
- Ensembl gene ENSG00000136731↗(opens in a new tab)
- NCBI Gene 56886↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q14.3
- Coordinates
- Chromosome 2: 128,091,200–128,195,677 (GRCh38)
- Exons
- 41 exons across 104.5 kb
- Protein
- 1,555 amino acids
- Also known as
- HUGT1
- Previous symbols
- UGCGL1
- MANE Select transcript
- ENST00000259253.11NM_020120.4
- 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.
Read UGGT1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads UGGT1 yet. The test sequences your whole genome, so your data includes it all the same.
How UGGT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 10.8 kb of the gene's 104.5 kb; 4,668 of those bases code for the protein.
How a genome test reads UGGT1
2
positions in UGGT1 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 104.5 kb of UGGT1, introns included, not only the 10.8 kb of exons.
Traits linked to UGGT1
The Human Phenotype Ontology lists these as features of the rare conditions UGGT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Anxiety
- Attention deficit
- Autism
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with generalized onset
- Cerebral palsy
- Clonic seizure
Show 34 more traits
- Delayed motor skills
- Delayed speech and language development
- Difficulty sleeping
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Global developmental delay
- Grand mal seizures
- Intellectual disability, severe
- Irritability
- Jerking
- Moderate global developmental delay
- More active than typical
- Myoclonic absence seizure
- Recurrent hand flapping
- Repeated seizures without recovery between them
- Repetitive movements
- Seizure affecting one half of brain
- Self-injurious behavior
- Severe global developmental delay
- Tonic seizure
- Tremor
- Delayed ability to walk
- Babinski sign
- Brisk reflexes
- Delayed CNS myelination
- Gray matter heterotopia
- Inability to walk
- Interictal EEG abnormality
- Thin corpus callosum
- Epilepsy
- Persistent head lag
- Poor eye contact
- Toe walking
- Unsteady walk
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.
- 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.). UGGT1 gene: UDP-glucose glycoprotein glucosyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/uggt1
Dante Labs. UGGT1 gene: UDP-glucose glycoprotein glucosyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/uggt1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks