Gene
SYT1
synaptotagmin 1
- HGNC 11509↗(opens in a new tab)
- Ensembl gene ENSG00000067715↗(opens in a new tab)
- NCBI Gene 6857↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q21.2
- Coordinates
- Chromosome 12: 78,864,774–79,452,008 (GRCh38)
- Exons
- 11 exons across 587.2 kb
- Protein
- 422 amino acids
- Also known as
- P65
- Previous symbols
- SYT, SVP65
- MANE Select transcript
- ENST00000261205.9NM_005639.3
- 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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No Genome Test report reads SYT1 yet. The test sequences your whole genome, so your data includes it all the same.
How SYT1 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 4.7 kb of the gene's 587.2 kb; 1,269 of those bases code for the protein.
How a genome test reads SYT1
13
positions in SYT1 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 587.2 kb of SYT1, introns included, not only the 4.7 kb of exons.
Traits linked to SYT1
The Human Phenotype Ontology lists these as features of the rare conditions SYT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed ability to walk
- Absent speech development
- Autism spectrum disorder
- EEG abnormality
- Motor delay
- Self-injurious behavior
- Severe global developmental delay
- Difficulty sleeping
Show 25 more traits
- Hyperactive movements
- Intellectual disability
- Poor eye contact
- Repetitive compulsive behavior
- Repetitive movements
- Agitation
- Anxiety
- Ataxia
- Athetoid cerebral palsy
- Chorea
- Choreoathetosis
- Delayed myelination
- Dystonia
- EEG with focal sharp waves
- EEG with series of focal spikes
- EEG with spike-wave complexes
- Hemiballismus
- Pauses in breathing while sleeping
- Poor speech
- Self-biting
- Self-mutilation
- Disorder of involuntary muscle movements
- Global developmental delay
- Inability to walk
- Involuntary movements
Abnormality of head or neck
- Abnormal location of the eyebrow
- Almond shaped eyes
- Eye folds
- High, prominent forehead
- Horizontal eyebrow
- Prominent nasal tip
- Short nose
- Smooth philtrum
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.
- 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.). SYT1 gene: synaptotagmin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/syt1
Dante Labs. SYT1 gene: synaptotagmin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/syt1
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