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Aliases for ATL1 Gene

Aliases for ATL1 Gene

  • Atlastin GTPase 1 2 3 5
  • 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
  • SPG3A 3 4
  • GBP-3 3 4
  • HGBP3 3 4
  • GBP3 3 4
  • Spastic Paraplegia 3A (Autosomal Dominant) 2
  • Guanylate-Binding Protein 3 3
  • EC 3.6.5.- 4
  • Atlastin1 3
  • Atlastin 2
  • AD-FSP 3
  • HSN1D 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 spastic paraplegia 3a, autosomal dominant and neuropathy, hereditary sensory, type id. Among its related pathways are Immune System and Interferon gamma 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

Promoters for ATL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATL1 Gene

Chromosome:
14
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

Genes around ATL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with CPT1C.
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

No data available for DME Specific Peptides for ATL1 Gene

Domains & Families for ATL1 Gene

Protein Domains for ATL1 Gene

Suggested Antigen Peptide Sequences for ATL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXF7

UniProtKB/Swiss-Prot:

ATLA1_HUMAN :
  • Contains 1 GB1/RHD3-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
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:0005515 protein binding IEA,IPI 16815977
GO:0042802 identical protein binding IPI 23334294
genes like me logo Genes that share ontologies with ATL1: view
genes like me logo Genes that share phenotypes with ATL1: view

Human Phenotype Ontology for ATL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATL1 Gene

MGI Knock Outs for ATL1:

Animal Model Products

miRNA for ATL1 Gene

miRTarBase miRNAs that target ATL1

No data available for Transcription Factor Targets 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
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA,ISS --
GO:0005794 Golgi apparatus IEA,ISS --
GO:0016021 integral component of membrane IEA,IDA 14506257
genes like me logo Genes that share ontologies with ATL1: view

Pathways & Interactions for ATL1 Gene

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

Pathways by source for ATL1 Gene

Gene Ontology (GO) - Biological Process for ATL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051260 protein homooligomerization IDA 14506257
genes like me logo Genes that share ontologies with ATL1: view

No data available for SIGNOR curated interactions for ATL1 Gene

Drugs & Compounds for ATL1 Gene

No Compound Related Data Available

Transcripts for ATL1 Gene

Unigene Clusters for ATL1 Gene

Atlastin GTPase 1:
Representative Sequences:

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 differential expression in normal tissues according to GTEx for ATL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines 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 expression patterns with ATL1: view

Protein tissue co-expression partners for ATL1 Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ATL1 35
  • 99.7 (n)
  • 99.82 (a)
ATL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATL1 36
  • 99 (a)
OneToOne
ATL1 35
  • 94.44 (n)
  • 98.57 (a)
dog
(Canis familiaris)
Mammalia ATL1 35
  • 95.4 (n)
  • 98.57 (a)
ATL1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atl1 16
Atl1 35
  • 90.74 (n)
  • 96.59 (a)
Atl1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATL1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATL1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atl1 35
  • 90.98 (n)
  • 97.31 (a)
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 36
  • 80 (a)
OneToOne
atl1 35
  • 72.04 (n)
  • 80.43 (a)
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
VAR_017146 Spastic paraplegia 3, autosomal dominant (SPG3)
VAR_017147 Spastic paraplegia 3, autosomal dominant (SPG3)
VAR_017148 Spastic paraplegia 3, autosomal dominant (SPG3)
VAR_017149 Spastic paraplegia 3, autosomal dominant (SPG3)
VAR_019446 Spastic paraplegia 3, autosomal dominant (SPG3)

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

Variation tolerance for ATL1 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.06% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(20) MalaCards diseases for ATL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 3a, autosomal dominant
  • strumpell-lorrain syndrome
neuropathy, hereditary sensory, type id
  • hereditary sensory neuropathy type id
dnmt1-related dementia, deafness, and sensory neuropathy
  • hereditary sensoryautonomic neuropathy type 1 with dementiahearing loss
spastic paraplegia 3a
  • spg3a
spastic paraplegia 3
  • spg3a
- elite association - COSMIC cancer census association via MalaCards
Search ATL1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ATL1

Genetic Association Database (GAD)
ATL1
Human Genome Epidemiology (HuGE) Navigator
ATL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 67
  2. Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. (PMID: 19730024) Salameh J.S. … David W.S. (J Clin Neuromuscul Dis 2009) 3 23
  3. Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. (PMID: 19459885) Smith B.N. … Shaw C.E. (Clin. Genet. 2009) 3 23
  4. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. (PMID: 19423133) Svenstrup K. … Nielsen J.E. (J. Neurol. Sci. 2009) 3 23
  5. Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. (PMID: 18664244) Loureiro J.L. … Silveira I. (Acta Neurol. Scand. 2009) 3 23

Products for ATL1 Gene

Sources for ATL1 Gene

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