AlphaFold predicted structure
DLG1 · Q12959
Mean pLDDT
73.1/ 100
Confident
904 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)21%
- Low(50–70)4%
- Very low(< 50)29%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DLG1
Chr 3q29discs large MAGUK scaffold protein 1
- Aliases:
- SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1
- MANE:
- ENST00000667157.1
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
Brugada syndrome and cardiac sodium channel disease
UnknownClefting
UnknownShort QT syndrome
Disease associations (Open Targets)
Abnormality of the skeletal system
0.44ovarian neoplasm
0.32multinodular goiter
0.28acne
0.27Abnormal erythrocyte morphology
0.27Peyronie disease
0.27alcohol drinking
0.24urolithiasis
0.24allergic rhinitis
0.24diabetes mellitus
0.22
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Disks large homolog 1
Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Promotes epithelial cell layer barrier function via maintaining cell-cell adhesion (By similarity). May also play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497)