Gene
SEL1L
SEL1L adaptor subunit of SYVN1 ubiquitin ligase
- HGNC 10717↗(opens in a new tab)
- Ensembl gene ENSG00000071537↗(opens in a new tab)
- NCBI Gene 6400↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q31
- Coordinates
- Chromosome 14: 81,471,547–81,533,853 (GRCh38)
- Exons
- 21 exons across 62.3 kb
- Protein
- 794 amino acids
- Also known as
- IBD2, SEL1L1, Hrd3
- MANE Select transcript
- ENST00000336735.9NM_005065.6
- 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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How SEL1L is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 7.9 kb of the gene's 62.3 kb; 2,385 of those bases code for the protein.
Traits linked to SEL1L
The Human Phenotype Ontology lists these as features of the rare conditions SEL1L can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Ataxia
- Babinski sign
- Clonus
- Delayed speech and language development
- Falls
- Global developmental delay
- Grand mal seizures
Show 15 more traits
- High stepping
- Inability to coordinate movements when walking
- Infantile spasms
- Intellectual disability, severe
- IQ between 34 and 49
- Motor delay
- Poor eye contact
- Severe global developmental delay
- Subcortical cerebral atrophy
- Wide based walk
- Brisk reflexes
- Dystonia
- Epilepsy
- Leukoencephalopathy
- Decrease in size of the outer layer of the brain due to loss of brain cells
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). SEL1L gene: SEL1L adaptor subunit of SYVN1 ubiquitin ligase. Retrieved 16 October 2026, from https://dantelabs.com/genes/sel1l
Dante Labs. SEL1L gene: SEL1L adaptor subunit of SYVN1 ubiquitin ligase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sel1l
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