SEL1L

Chr 14q31

SEL1L adaptor subunit of SYVN1 ubiquitin ligase

Aliases:: IBD2, SEL1L1, Hrd3
MANE:: ENST00000336735.9

OMIM: 602329 ↗NCBI: 6400 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SEL1L · Q9UBV2

v62025-08-01

Predicted Aligned Error matrix for SEL1L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.0/ 100

Confident

794 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)20%
Low(50–70)4%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.55
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
0.50
holoprosencephaly
0.46
cystic fibrosis
0.46
Thrombocytopenia
0.28
inherited retinal dystrophy
0.24
Thrombophlebitis
0.24
phlebitis
0.24
abscess
0.24
cellulitis
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein sel-1 homolog 1

Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509, PubMed:29997207, PubMed:37943610, PubMed:37943617). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling