AlphaFold predicted structure
TULP1 · O00294
Mean pLDDT
65.4/ 100
Low
542 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)16%
- Low(50–70)9%
- Very low(< 50)44%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TULP1
Chr 6p21.31TUB like protein 1
- Aliases:
- TUBL1, LCA15
- MANE:
- ENST00000229771.11
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalAlbinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
retinitis pigmentosa
0.82Leber congenital amaurosis
0.78Retinal dystrophy
0.57Leber congenital amaurosis 1
0.50autosomal recessive retinitis pigmentosa
0.46Posterior column ataxia - retinitis pigmentosa
0.38eye disorder
0.37Stargardt disease
0.36retinal degeneration
0.35polydactyly, postaxial, type A1
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tubby-related protein 1
Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages
Diseases associated with TULP1
Curated MONDO disease pages that list TULP1 among their top associated genes.