AlphaFold predicted structure
ATL1 · Q8WXF7
Mean pLDDT
86.6/ 100
Confident
558 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)22%
- Low(50–70)4%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ATL1
Chr 14q22.1atlastin GTPase 1
- Aliases:
- FSP1, AD-FSP
- MANE:
- ENST00000358385.12
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPain syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
hereditary spastic paraplegia 3A
0.83Autosomal dominant spastic paraplegia type 3
0.80hereditary sensory and autonomic neuropathy type 1
0.65hereditary spastic paraplegia
0.65hereditary disease
0.41Spastic paraplegia
0.40hereditary sensory and autonomic neuropathy
0.37Dupuytren Contracture
0.35Osteomyelitis leading to amputation due to slow healing fractures
0.34Penetrating foot ulcers
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Atlastin-1
Atlastin-1 (ATL1) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect (PubMed:14506257, PubMed:18270207, PubMed:19665976, PubMed:27619977, PubMed:34817557, PubMed:38509071). Two atlastin-1 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (PubMed:14506257, PubMed:21220294, PubMed:21368113, PubMed:23334294, PubMed:38509071). May also regulate more or less directly Golgi biogenesis (PubMed:17321752). Indirectly regulates axonal development (By similarity)
Diseases associated with ATL1
Curated MONDO disease pages that list ATL1 among their top associated genes.