{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8WXF7","secondaryAccessions":["A6NND5","A8K2C0","G5E9T1","O95890","Q69YH7","Q96FK0"],"uniProtkbId":"ATLA1_HUMAN","entryAudit":{"firstPublicDate":"2003-10-24","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2002-03-01","entryVersion":194,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14506257"}],"value":"Atlastin-1"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27619977"}],"value":"ATL-1"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}],"value":"3.6.5.-"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"EMBL","id":"AAL37898.1"}],"value":"Brain-specific GTP-binding protein"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12387898"}],"value":"GTP-binding protein 3"},"shortNames":[{"value":"GBP-3"},{"value":"hGBP3"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12387898"}],"value":"Guanine nucleotide-binding protein 3"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11685207"}],"value":"Spastic paraplegia 3 protein A"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11231"}],"value":"ATL1"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12387898"}],"value":"GBP3"},{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11231"}],"value":"SPG3"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11685207"}],"value":"SPG3A"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6PST4"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17321752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18270207"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19665976"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21220294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21368113"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23334294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27619977"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34817557"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}],"value":"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)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"GTP + H2O = GDP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:19669"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:37565"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:58189"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:19670"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"38509071"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6PST4"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12387898"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16339213"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16815977"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17321752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19665976"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20200447"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21220294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21368113"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23334294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23969831"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25751282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}],"value":"Monomeric and homodimeric. The homodimer, transiently formed by two molecules on opposing membranes, is the active form mediating ER membrane fusion (PubMed:14506257, PubMed:21220294, PubMed:21368113, PubMed:23334294, PubMed:38509071). Interacts with REEP1, REEP5, RTN3 and RTN4 (via the transmembrane region); these proteins are involved in endoplasmic reticulum tubular network organization (PubMed:19665976, PubMed:20200447). Interacts with ZFYVE27; both proteins are involved in endoplasmic reticulum tubular network organization (PubMed:23969831). Interacts with ARL6IP1; both proteins are involved in endoplasmic reticulum tubular network organization (By similarity). Interacts with SPAST; the interaction is direct, could recruit SPAST to Golgi membranes (PubMed:16339213, PubMed:16815977). Interacts (via N-terminal region) with MAP4K4 (via CNH regulatory domain) (PubMed:12387898). May interact with TMED2 (PubMed:17321752). Interacts with CPT1C (PubMed:25751282)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q8WXF7","geneName":"ATL1","intActId":"EBI-2410266"},"numberOfExperiments":13,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q8N5K1","geneName":"CISD2","intActId":"EBI-1045797"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P50570-2","geneName":"DNM2","intActId":"EBI-10968534"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P42858","geneName":"HTT","intActId":"EBI-466029"},"numberOfExperiments":18,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q8WXH2","geneName":"JPH3","intActId":"EBI-1055254"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P02545","geneName":"LMNA","intActId":"EBI-351935"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P19404","geneName":"NDUFV2","intActId":"EBI-713665"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P35240","geneName":"NF2","intActId":"EBI-1014472"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q96CV9","geneName":"OPTN","intActId":"EBI-748974"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q9BZ23-2","geneName":"PANK2","intActId":"EBI-25929070"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"O00628-2","geneName":"PEX7","intActId":"EBI-25882083"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P50897","geneName":"PPT1","intActId":"EBI-1237011"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P04156","geneName":"PRNP","intActId":"EBI-977302"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P41219","geneName":"PRPH","intActId":"EBI-752074"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P51149","geneName":"RAB7A","intActId":"EBI-1056089"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q9NQC3-1","geneName":"RTN4","intActId":"EBI-715972"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q16637","geneName":"SMN2","intActId":"EBI-395421"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q7Z699","geneName":"SPRED1","intActId":"EBI-5235340"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q86WV8","geneName":"TSC1","intActId":"EBI-12806590"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"P54577","geneName":"YARS1","intActId":"EBI-1048893"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q5T4F4","geneName":"ZFYVE27","intActId":"EBI-3892947"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q60870","geneName":"Reep5","intActId":"EBI-2410304"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q8WXF7","intActId":"EBI-2410266"},"interactantTwo":{"uniProtKBAccession":"Q9ES97-3","geneName":"Rtn3","intActId":"EBI-14877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LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27619977"}],"value":"Localizes to endoplasmic reticulum tubular network (PubMed:27619977)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16339213"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17321752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19665976"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27619977"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14506257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17321752"}],"value":"Golgi apparatus 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Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain. Expressed in upper and lower motor neurons (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34546351"}],"value":"The N-terminal hypervariable region (HVR) regulates ATL1-mediated membrane tethering by organizing ATL1 into a lattice structure on the same membrane. It does not affect GTP hydrolysis or membrane fusion. It has no effect on the GTP hydrolysis and fusion steps"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21220294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21368113"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23334294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34546351"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}],"value":"The GB1/RHD3-type G domain mediates GTP-binding and hydrolysis as well as homodimerization"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21220294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21368113"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23334294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34546351"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38509071"}],"value":"The two three-helix bundle (3HB) regions in the homodimer are loosely associated initially, but they tighten upon GTP hydrolysis, facilitating the fusion of membranes"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34817557"}],"value":"The C-terminal autoinhibitory domain negatively regulates the GTPase-dependent fusogenic activity without affecting GTP-binding"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34546351"}],"value":"Phosphorylated. Phosphorylation, by different kinases, of the N-terminal hypervariable region (HVR) regulates the ATL1-mediated membrane tethering step"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Spastic paraplegia 3, autosomal dominant","diseaseAccession":"DI-01035","acronym":"SPG3","description":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.","diseaseCrossReference":{"database":"MIM","id":"182600"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11685207"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12939451"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14695538"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15184642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16533974"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17321752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17427918"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18270207"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20718791"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20932283"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21336785"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23483706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24473461"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24604904"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34817557"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Neuropathy, hereditary sensory, 1D","diseaseAccession":"DI-03056","acronym":"HSN1D","description":"A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. 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