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Aliases for ATL1 Gene

Aliases for ATL1 Gene

  • Atlastin GTPase 1 2 3
  • SPG3A 3 4 6
  • Guanine Nucleotide-Binding Protein 3 3 4
  • Brain-Specific GTP-Binding Protein 3 4
  • Spastic Paraplegia 3 Protein A 3 4
  • GTP-Binding Protein 3 3 4
  • HSN1D 3 6
  • GBP-3 3 4
  • HGBP3 3 4
  • GBP3 3 4
  • Spastic Paraplegia 3A (Autosomal Dominant) 2
  • Guanylate-Binding Protein 3 3
  • Atlastin-1 3
  • EC 3.6.5.- 4
  • Atlastin1 3
  • Atlastin 2
  • AD-FSP 3
  • FSP1 3
  • SPG3 3

External Ids for ATL1 Gene

Previous HGNC Symbols for ATL1 Gene

  • SPG3
  • SPG3A

Previous GeneCards Identifiers for ATL1 Gene

  • GC14P050097
  • GC14P050999
  • GC14P031125

Summaries for ATL1 Gene

Entrez Gene Summary for ATL1 Gene

  • The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATL1 Gene

ATL1 (Atlastin GTPase 1) is a Protein Coding gene. Diseases associated with ATL1 include neuropathy, hereditary sensory, type id and spastic paraplegia 3a, autosomal dominant. Among its related pathways are Cytoskeletal Signaling and Interferon Signaling. GO annotations related to this gene include identical protein binding and GTPase activity. An important paralog of this gene is ATL2.

UniProtKB/Swiss-Prot for ATL1 Gene

  • GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.

Gene Wiki entry for ATL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATL1 Gene

Genomics for ATL1 Gene

Regulatory Elements for ATL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATL1 Gene

Start:
50,532,509 bp from pter
End:
50,633,068 bp from pter
Size:
100,560 bases
Orientation:
Plus strand

Genomic View for ATL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATL1 Gene

Proteins for ATL1 Gene

  • Protein details for ATL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXF7-ATLA1_HUMAN
    Recommended name:
    Atlastin-1
    Protein Accession:
    Q8WXF7
    Secondary Accessions:
    • A6NND5
    • A8K2C0
    • G5E9T1
    • O95890
    • Q69YH7
    • Q96FK0

    Protein attributes for ATL1 Gene

    Size:
    558 amino acids
    Molecular mass:
    63544 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD20047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAK51160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATL1 Gene

    Alternative splice isoforms for ATL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATL1 Gene

Proteomics data for ATL1 Gene at MOPED

Post-translational modifications for ATL1 Gene

  • Ubiquitination at Lys334
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATL1 (atlastin)

No data available for DME Specific Peptides for ATL1 Gene

Domains for ATL1 Gene

Protein Domains for ATL1 Gene

Suggested Antigen Peptide Sequences for ATL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXF7

UniProtKB/Swiss-Prot:

ATLA1_HUMAN :
  • Q8WXF7
Domain:
  • Contains 1 GB1/RHD3-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with ATL1: view

No data available for Gene Families for ATL1 Gene

Function for ATL1 Gene

Molecular function for ATL1 Gene

UniProtKB/Swiss-Prot Function:
GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.

Enzyme Numbers (IUBMB) for ATL1 Gene

Gene Ontology (GO) - Molecular Function for ATL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 14506257
GO:0005515 protein binding IPI 16815977
GO:0005525 GTP binding ISS --
GO:0042802 identical protein binding IPI 23334294
genes like me logo Genes that share ontologies with ATL1: view

Phenotypes for ATL1 Gene

genes like me logo Genes that share phenotypes with ATL1: view

Animal Models for ATL1 Gene

MGI Knock Outs for ATL1:

miRNA for ATL1 Gene

miRTarBase miRNAs that target ATL1

No data available for Transcription Factor Targeting and HOMER Transcription for ATL1 Gene

Localization for ATL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATL1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, axon.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATL1 Gene COMPARTMENTS Subcellular localization image for ATL1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000137 Golgi cis cisterna ISS --
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA 19665976
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005794 Golgi apparatus ISS --
genes like me logo Genes that share ontologies with ATL1: view

Pathways for ATL1 Gene

genes like me logo Genes that share pathways with ATL1: view

Pathways by source for ATL1 Gene

1 Cell Signaling Technology pathway for ATL1 Gene

Gene Ontology (GO) - Biological Process for ATL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0007029 endoplasmic reticulum organization IDA 19665976
GO:0007409 axonogenesis ISS --
GO:0008152 metabolic process IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with ATL1: view

Transcripts for ATL1 Gene

Unigene Clusters for ATL1 Gene

Atlastin GTPase 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5:
SP6:

Relevant External Links for ATL1 Gene

GeneLoc Exon Structure for
ATL1
ECgene alternative splicing isoforms for
ATL1

Expression for ATL1 Gene

mRNA expression in normal human tissues for ATL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.3), Brain - Anterior cingulate cortex (BA24) (4.6), and Brain - Cortex (4.2).

Protein differential expression in normal tissues for ATL1 Gene

This gene is overexpressed in Frontal cortex (17.8), Brain (10.1), Fetal Brain (9.4), Spinal cord (7.0), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATL1 Gene

SOURCE GeneReport for Unigene cluster for ATL1 Gene Hs.584905

mRNA Expression by UniProt/SwissProt for ATL1 Gene

Q8WXF7-ATLA1_HUMAN
Tissue specificity: 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).
genes like me logo Genes that share expressions with ATL1: view

Expression partners for ATL1 Gene

In Situ Assay Products

Orthologs for ATL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATL1 35
  • 94.44 (n)
  • 98.57 (a)
ATL1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATL1 35
  • 95.4 (n)
  • 98.57 (a)
ATL1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atl1 35
  • 90.74 (n)
  • 96.59 (a)
Atl1 16
Atl1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATL1 35
  • 99.7 (n)
  • 99.82 (a)
ATL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atl1 35
  • 90.98 (n)
  • 97.31 (a)
oppossum
(Monodelphis domestica)
Mammalia ATL1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATL1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATL1 35
  • 80.98 (n)
  • 92.39 (a)
ATL1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATL1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atl1 35
  • 80 (n)
  • 89.06 (a)
zebrafish
(Danio rerio)
Actinopterygii atl1 35
  • 72.04 (n)
  • 80.43 (a)
atl1 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta atl 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atln-1 36
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for ATL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATL1 Gene

ENSEMBL:
Gene Tree for ATL1 (if available)
TreeFam:
Gene Tree for ATL1 (if available)

Paralogs for ATL1 Gene

Paralogs for ATL1 Gene

genes like me logo Genes that share paralogs with ATL1: view

Variants for ATL1 Gene

Sequence variations from dbSNP and Humsavar for ATL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs941611 -- 50,538,415(-) CTGAC(A/G)ATAAA intron-variant
rs955879 -- 50,615,256(+) AAAGC(A/G)TAGTG intron-variant
rs963626 -- 50,620,971(+) AGGGA(A/G)CTGTA intron-variant
rs987315 -- 50,557,425(+) ccttt(C/T)ctttt intron-variant
rs1018036 -- 50,618,711(+) ACCAA(C/T)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATL1 Gene

Variant ID Type Subtype PubMed ID
esv2665685 CNV Deletion 23128226
nsv1273 CNV Loss 18451855
nsv1274 CNV Insertion 18451855
esv2663828 CNV Deletion 23128226
nsv826949 CNV Gain 20364138
esv2666565 CNV Deletion 23128226

Relevant External Links for ATL1 Gene

HapMap Linkage Disequilibrium report
ATL1
Human Gene Mutation Database (HGMD)
ATL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATL1 Gene

Disorders for ATL1 Gene

(2) OMIM Diseases for ATL1 Gene (606439)

UniProtKB/Swiss-Prot

ATLA1_HUMAN
  • Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]: 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. {ECO:0000269 PubMed:11685207, ECO:0000269 PubMed:12112092, ECO:0000269 PubMed:12939451, ECO:0000269 PubMed:14695538, ECO:0000269 PubMed:15184642, ECO:0000269 PubMed:16533974, ECO:0000269 PubMed:17427918, ECO:0000269 PubMed:20718791, ECO:0000269 PubMed:20932283, ECO:0000269 PubMed:21336785, ECO:0000269 PubMed:23483706, ECO:0000269 PubMed:24473461}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]: A 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. {ECO:0000269 PubMed:21194679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ATL1 Gene

(4) Novoseek inferred disease relationships for ATL1 Gene

Disease -log(P) Hits PubMed IDs
spg3a 98.5 67
spastic paraplegia hereditary autosomal dominant 95.9 10
spastic paraplegia hereditary 94.8 16
spastic paraplegia 84.5 7

Relevant External Links for ATL1

Genetic Association Database (GAD)
ATL1
Human Genome Epidemiology (HuGE) Navigator
ATL1
genes like me logo Genes that share disorders with ATL1: view

No data available for Genatlas for ATL1 Gene

Publications for ATL1 Gene

  1. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (PMID: 11685207) Zhao X. … Fink J.K. (Nat. Genet. 2001) 3 4 23
  2. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. (PMID: 12939451) Dalpozzo F. … Martinuzzi A. (Neurology 2003) 3 4 23
  3. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. (PMID: 14695538) Sauter S.M. … Neesen J. (Hum. Mutat. 2004) 3 4 23
  4. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. (PMID: 16815977) Evans K.J. … Lauring B.P. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  5. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. (PMID: 16533974) Rainier S. … Fink J.K. (Arch. Neurol. 2006) 3 4 23

Products for ATL1 Gene

Sources for ATL1 Gene

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