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Entry version 161 (13 Nov 2019)
Sequence version 1 (01 Mar 2002)
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Protein

Atlastin-1

Gene

ATL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development.8 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi74 – 81GTP8
Nucleotide bindingi118 – 120GTP3
Nucleotide bindingi217 – 218GTP2
Nucleotide bindingi276 – 279GTP4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandGTP-binding, Nucleotide-binding

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.N.5.1.1 the endoplasmic reticulum fusion gtpase, atlastin (atlastin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Atlastin-1 (EC:3.6.5.-)
Alternative name(s):
Brain-specific GTP-binding protein
GTP-binding protein 3
Short name:
GBP-3
Short name:
hGBP3
Guanine nucleotide-binding protein 3
Spastic paraplegia 3 protein A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATL1
Synonyms:GBP3, SPG3A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11231 ATL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606439 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WXF7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 449Cytoplasmic1 PublicationAdd BLAST449
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei450 – 470HelicalSequence analysisAdd BLAST21
Topological domaini471LumenalSequence analysis1
Transmembranei472 – 492HelicalSequence analysisAdd BLAST21
Topological domaini493 – 558Cytoplasmic1 PublicationAdd BLAST66

Keywords - Cellular componenti

Cell projection, Endoplasmic reticulum, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 3, autosomal dominant (SPG3)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071874118R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs606231265EnsemblClinVar.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476051EnsemblClinVar.1
Natural variantiVAR_019446161A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications1
Natural variantiVAR_017146217R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476049EnsemblClinVar.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476046EnsemblClinVar.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs864622520EnsemblClinVar.1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476048EnsemblClinVar.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476047EnsemblClinVar.1
Natural variantiVAR_065511408M → V in SPG3. 1 PublicationCorresponds to variant dbSNP:rs28939094EnsemblClinVar.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs397514712EnsemblClinVar.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs119476050EnsemblClinVar.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant dbSNP:rs387906941EnsemblClinVar.1
Natural variantiVAR_065513436Missing in SPG3; does not affect GTPase activity; does not affect interaction with SPAST; patients' lymphoblasts show decreased protein levels but normal levels of mRNA. 1 Publication1
Natural variantiVAR_067659440N → T in SPG3. 1 Publication1
Natural variantiVAR_067660495R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 PublicationsCorresponds to variant dbSNP:rs864622269EnsemblClinVar.1
Neuropathy, hereditary sensory, 1D (HSN1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06550866E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 PublicationCorresponds to variant dbSNP:rs200314808EnsemblClinVar.1
Natural variantiVAR_065510355N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi77R → A: Abolishes GTPase activity and impairs homodimerization. 2 Publications1
Mutagenesisi77R → E: Abolishes homodimerization. 2 Publications1
Mutagenesisi80K → A: Alters endoplasmic reticulum morphogenesis. 2 Publications1
Mutagenesisi151F → S: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1
Mutagenesisi162T → P: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1
Mutagenesisi191Q → R: Abolishes homodimerization. 1 Publication1
Mutagenesisi247H → R: Impairs homodimerization and GTPase activity. 1 Publication1
Mutagenesisi398S → Y: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

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DisGeNETi
51062

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ATL1

MalaCards human disease database

More...
MalaCardsi
ATL1
MIMi182600 phenotype
613708 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198513

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
100984 Autosomal dominant spastic paraplegia type 3
36386 Hereditary sensory and autonomic neuropathy type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36061

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WXF7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATL1

Domain mapping of disease mutations (DMDM)

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DMDMi
37999727

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001909711 – 558Atlastin-1Add BLAST558

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei10PhosphoserineBy similarity1
Modified residuei22PhosphoserineBy similarity1
Modified residuei23PhosphoserineBy similarity1
Modified residuei395N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WXF7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WXF7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8WXF7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WXF7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8WXF7

PeptideAtlas

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PeptideAtlasi
Q8WXF7

PRoteomics IDEntifications database

More...
PRIDEi
Q8WXF7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
34035
75028 [Q8WXF7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WXF7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8WXF7

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8WXF7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in the adult and fetal central nervous system. 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).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198513 Expressed in 187 organ(s), highest expression level in middle temporal gyrus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WXF7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WXF7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA027550

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer as apoprotein and in the GDP-bound form. Homodimer in the GTP-bound form.

Interacts (via N-terminal region) with MAP4K4 (via CNH regulatory domain).

Interacts with REEP5, RTN3 and RTN4 (via the transmembrane region).

Interacts with SPAST; interaction is direct. May interact with TMED2.

Interacts with REEP1.

Interacts with CPT1C.

Interacts with ARL6IP1 (By similarity).

Interacts with ZFYVE27 (PubMed:23969831).

By similarity11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119254, 4 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8WXF7

Database of interacting proteins

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DIPi
DIP-53502N

Protein interaction database and analysis system

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IntActi
Q8WXF7, 9 interactors

Molecular INTeraction database

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MINTi
Q8WXF7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000351155

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1558
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8WXF7

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q8WXF7

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini64 – 309GB1/RHD3-type GAdd BLAST246

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni448 – 558Sufficient for membrane associationAdd BLAST111

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili412 – 439Sequence analysisAdd BLAST28

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2037 Eukaryota
ENOG410XR6Z LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158704

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234332

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WXF7

KEGG Orthology (KO)

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KOi
K17339

Identification of Orthologs from Complete Genome Data

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OMAi
MEKGIQH

Database of Orthologous Groups

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OrthoDBi
1027269at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WXF7

TreeFam database of animal gene trees

More...
TreeFami
TF105251

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030386 G_GB1_RHD3_dom
IPR036543 Guanylate-bd_C_sf
IPR015894 Guanylate-bd_N
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02263 GBP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48340 SSF48340, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51715 G_GB1_RHD3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WXF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE
60 70 80 90 100
TALNRILLSE AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV
110 120 130 140 150
GDYNEPLTGF SWRGGSERET TGIQIWSEIF LINKPDGKKV AVLLMDTQGT
160 170 180 190 200
FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ NVQEDDLQHL QLFTEYGRLA
210 220 230 240 250
MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL KVSGNQHEEL
260 270 280 290 300
QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL
310 320 330 340 350
IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA
360 370 380 390 400
TAEANNLAAV ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK
410 420 430 440 450
LFRGVKKMGG EEFSRRYLQQ LESEIDELYI QYIKHNDSKN IFHAARTPAT
460 470 480 490 500
LFVVIFITYV IAGVTGFIGL DIIASLCNMI MGLTLITLCT WAYIRYSGEY
510 520 530 540 550
RELGAVIDQV AAALWDQGST NEALYKLYSA AATHRHLYHQ AFPTPKSEST

EQSEKKKM
Length:558
Mass (Da):63,544
Last modified:March 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i68A33C39DD43504C
GO
Isoform 2 (identifier: Q8WXF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     518-522: Missing.

Note: No experimental confirmation available.
Show »
Length:553
Mass (Da):63,055
Checksum:i663877DBC4B1FC67
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5T4G3V5T4_HUMAN
Atlastin-1
ATL1
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJA7H0YJA7_HUMAN
Atlastin-1
ATL1
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4Y8G3V4Y8_HUMAN
Atlastin-1
ATL1
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V334G3V334_HUMAN
Atlastin-1
ATL1
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ65H0YJ65_HUMAN
Atlastin-1
ATL1
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V321G3V321_HUMAN
Atlastin-1
ATL1
29Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD20047 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAK51160 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05896343D → E1 PublicationCorresponds to variant dbSNP:rs17850684EnsemblClinVar.1
Natural variantiVAR_06550866E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 PublicationCorresponds to variant dbSNP:rs200314808EnsemblClinVar.1
Natural variantiVAR_071874118R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs606231265EnsemblClinVar.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476051EnsemblClinVar.1
Natural variantiVAR_019446161A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications1
Natural variantiVAR_058964193F → C1 PublicationCorresponds to variant dbSNP:rs17850683EnsemblClinVar.1
Natural variantiVAR_067656196Y → C in a patient with hereditary spastic paraplegia; unknown pathological significance; no effect on homodimerization and GTPase activity. 2 PublicationsCorresponds to variant dbSNP:rs1555364246EnsemblClinVar.1
Natural variantiVAR_017146217R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476049EnsemblClinVar.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476046EnsemblClinVar.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs864622520EnsemblClinVar.1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476048EnsemblClinVar.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476047EnsemblClinVar.1
Natural variantiVAR_065510355N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication1
Natural variantiVAR_065511408M → V in SPG3. 1 PublicationCorresponds to variant dbSNP:rs28939094EnsemblClinVar.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs397514712EnsemblClinVar.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs119476050EnsemblClinVar.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant dbSNP:rs387906941EnsemblClinVar.1
Natural variantiVAR_065513436Missing in SPG3; does not affect GTPase activity; does not affect interaction with SPAST; patients' lymphoblasts show decreased protein levels but normal levels of mRNA. 1 Publication1
Natural variantiVAR_067659440N → T in SPG3. 1 Publication1
Natural variantiVAR_067660495R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 PublicationsCorresponds to variant dbSNP:rs864622269EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044864518 – 522Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY032844 mRNA Translation: AAK51160.1 Different initiation.
AF444143 mRNA Translation: AAL37898.1
AK290185 mRNA Translation: BAF82874.1
AL833591 mRNA Translation: CAH10392.1
AL118556 Genomic DNA No translation available.
AL606834 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65705.1
CH471078 Genomic DNA Translation: EAW65706.1
BC010708 mRNA Translation: AAH10708.2
AF131801 mRNA Translation: AAD20047.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32077.1 [Q8WXF7-2]
CCDS9700.1 [Q8WXF7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001121185.1, NM_001127713.1 [Q8WXF7-2]
NP_056999.2, NM_015915.4 [Q8WXF7-1]
NP_853629.2, NM_181598.3 [Q8WXF7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358385; ENSP00000351155; ENSG00000198513 [Q8WXF7-1]
ENST00000441560; ENSP00000413675; ENSG00000198513 [Q8WXF7-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51062

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51062

UCSC genome browser

More...
UCSCi
uc001wyd.5 human [Q8WXF7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY032844 mRNA Translation: AAK51160.1 Different initiation.
AF444143 mRNA Translation: AAL37898.1
AK290185 mRNA Translation: BAF82874.1
AL833591 mRNA Translation: CAH10392.1
AL118556 Genomic DNA No translation available.
AL606834 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65705.1
CH471078 Genomic DNA Translation: EAW65706.1
BC010708 mRNA Translation: AAH10708.2
AF131801 mRNA Translation: AAD20047.1 Different initiation.
CCDSiCCDS32077.1 [Q8WXF7-2]
CCDS9700.1 [Q8WXF7-1]
RefSeqiNP_001121185.1, NM_001127713.1 [Q8WXF7-2]
NP_056999.2, NM_015915.4 [Q8WXF7-1]
NP_853629.2, NM_181598.3 [Q8WXF7-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3Q5DX-ray2.70A1-447[»]
3Q5EX-ray3.01A/C/E/G1-447[»]
3QNUX-ray2.80A18-447[»]
3QOFX-ray2.80A/B/C/D18-447[»]
4IDNX-ray2.25A/B1-446[»]
4IDOX-ray2.09A/B1-446[»]
4IDPX-ray2.59A/B/C/D1-446[»]
4IDQX-ray2.30A/B/C/D1-446[»]
6B9DX-ray1.95A/B1-446[»]
6B9EX-ray1.99A/B1-446[»]
6B9FX-ray1.90A/B1-446[»]
6B9GX-ray3.00A/B/C/D1-339[»]
SMRiQ8WXF7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119254, 4 interactors
CORUMiQ8WXF7
DIPiDIP-53502N
IntActiQ8WXF7, 9 interactors
MINTiQ8WXF7
STRINGi9606.ENSP00000351155

Protein family/group databases

TCDBi1.N.5.1.1 the endoplasmic reticulum fusion gtpase, atlastin (atlastin) family

PTM databases

iPTMnetiQ8WXF7
PhosphoSitePlusiQ8WXF7
SwissPalmiQ8WXF7

Polymorphism and mutation databases

BioMutaiATL1
DMDMi37999727

Proteomic databases

EPDiQ8WXF7
jPOSTiQ8WXF7
MassIVEiQ8WXF7
MaxQBiQ8WXF7
PaxDbiQ8WXF7
PeptideAtlasiQ8WXF7
PRIDEiQ8WXF7
ProteomicsDBi34035
75028 [Q8WXF7-1]

Genome annotation databases

EnsembliENST00000358385; ENSP00000351155; ENSG00000198513 [Q8WXF7-1]
ENST00000441560; ENSP00000413675; ENSG00000198513 [Q8WXF7-2]
GeneIDi51062
KEGGihsa:51062
UCSCiuc001wyd.5 human [Q8WXF7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51062
DisGeNETi51062

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATL1
GeneReviewsiATL1
HGNCiHGNC:11231 ATL1
HPAiHPA027550
MalaCardsiATL1
MIMi182600 phenotype
606439 gene
613708 phenotype
neXtProtiNX_Q8WXF7
OpenTargetsiENSG00000198513
Orphaneti100984 Autosomal dominant spastic paraplegia type 3
36386 Hereditary sensory and autonomic neuropathy type 1
PharmGKBiPA36061

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2037 Eukaryota
ENOG410XR6Z LUCA
GeneTreeiENSGT00940000158704
HOGENOMiHOG000234332
InParanoidiQ8WXF7
KOiK17339
OMAiMEKGIQH
OrthoDBi1027269at2759
PhylomeDBiQ8WXF7
TreeFamiTF105251

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ATL1 human
EvolutionaryTraceiQ8WXF7

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Atlastin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51062
PharosiQ8WXF7

Protein Ontology

More...
PROi
PR:Q8WXF7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198513 Expressed in 187 organ(s), highest expression level in middle temporal gyrus
ExpressionAtlasiQ8WXF7 baseline and differential
GenevisibleiQ8WXF7 HS

Family and domain databases

InterProiView protein in InterPro
IPR030386 G_GB1_RHD3_dom
IPR036543 Guanylate-bd_C_sf
IPR015894 Guanylate-bd_N
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF02263 GBP, 1 hit
SUPFAMiSSF48340 SSF48340, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51715 G_GB1_RHD3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATLA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WXF7
Secondary accession number(s): A6NND5
, A8K2C0, G5E9T1, O95890, Q69YH7, Q96FK0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: March 1, 2002
Last modified: November 13, 2019
This is version 161 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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