ATL3

Chr 11q13.1

atlastin GTPase 3

Aliases:: DKFZP564J0863
MANE:: ENST00000398868.8

OMIM: 609369 ↗NCBI: 25923 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATL3 · Q6DD88

v62025-08-01

Predicted Aligned Error matrix for ATL3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

541 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)30%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial dysautonomia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neuropathy, hereditary sensory, type 1F
0.72
hereditary sensory and autonomic neuropathy type 1
0.62
hereditary disease
0.19
prostate cancer
0.11
Familial prostate cancer
0.11
Charcot-Marie-Tooth disease axonal type 2N
0.11
COVID-19
0.06
Li-Fraumeni syndrome
0.04
Ochoa syndrome
0.04
urofacial syndrome 2
0.04

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

Protein function (UniProt)

Atlastin-3

Atlastin-3 (ATL3) 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:18270207, PubMed:19665976, PubMed:24459106, PubMed:27619977, PubMed:37102997). Two atlastin-3 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 (By similarity)