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Aliases for ATL3 Gene

Aliases for ATL3 Gene

  • Atlastin GTPase 3 2 3
  • HSN1F 3 6
  • Atlastin-3 3
  • EC 3.6.5.- 4

External Ids for ATL3 Gene

Previous GeneCards Identifiers for ATL3 Gene

  • GC11M063154
  • GC11M063391
  • GC11M059725

Summaries for ATL3 Gene

Entrez Gene Summary for ATL3 Gene

  • This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

GeneCards Summary for ATL3 Gene

ATL3 (Atlastin GTPase 3) is a Protein Coding gene. Diseases associated with ATL3 include neuropathy, hereditary sensory, type if and dnmt1-related dementia, deafness, and sensory neuropathy. 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 ATL3 Gene

  • GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATL3 Gene

Genomics for ATL3 Gene

Regulatory Elements for ATL3 Gene

Epigenetics Products

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

Genomic Location for ATL3 Gene

63,624,082 bp from pter
63,671,969 bp from pter
47,888 bases
Minus strand

Genomic View for ATL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATL3 Gene

Proteins for ATL3 Gene

  • Protein details for ATL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q8N7W5
    • Q9H8Q5
    • Q9UFL1

    Protein attributes for ATL3 Gene

    541 amino acids
    Molecular mass:
    60542 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC05111.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

neXtProt entry for ATL3 Gene

Proteomics data for ATL3 Gene at MOPED

Post-translational modifications for ATL3 Gene

  • Ubiquitination at Lys239 and Lys391
  • Modification sites at PhosphoSitePlus

Other Protein References for ATL3 Gene

Antibody Products

No data available for DME Specific Peptides for ATL3 Gene

Domains for ATL3 Gene

Protein Domains for ATL3 Gene

Suggested Antigen Peptide Sequences for ATL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q6DD88
  • 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.
genes like me logo Genes that share domains with ATL3: view

No data available for Gene Families for ATL3 Gene

Function for ATL3 Gene

Molecular function for ATL3 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.

Enzyme Numbers (IUBMB) for ATL3 Gene

Gene Ontology (GO) - Molecular Function for ATL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 18270207
GO:0005525 GTP binding IEA --
GO:0042802 identical protein binding IDA 18270207
genes like me logo Genes that share ontologies with ATL3: view

miRNA for ATL3 Gene

miRTarBase miRNAs that target ATL3

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATL3 Gene

Localization for ATL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATL3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Localizes to endoplasmic reticulum tubules and accumulates in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network.

Subcellular locations from

Jensen Localization Image for ATL3 Gene COMPARTMENTS Subcellular localization image for ATL3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ATL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 18270207
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 18270207
genes like me logo Genes that share ontologies with ATL3: view

Pathways for ATL3 Gene

SuperPathways for ATL3 Gene

No Data Available

Interacting Proteins for ATL3 Gene

Gene Ontology (GO) - Biological Process for ATL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006888 NOT ER to Golgi vesicle-mediated transport IMP 18270207
GO:0007029 endoplasmic reticulum organization IMP 18270207
GO:0007030 Golgi organization IMP 18270207
GO:0008152 metabolic process NAS 18270207
genes like me logo Genes that share ontologies with ATL3: view

No data available for Pathways by source for ATL3 Gene

Transcripts for ATL3 Gene

Unigene Clusters for ATL3 Gene

Atlastin GTPase 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATL3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATL3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3: - - - -

Relevant External Links for ATL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATL3 Gene

mRNA expression in normal human tissues for ATL3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATL3 Gene

SOURCE GeneReport for Unigene cluster for ATL3 Gene Hs.356719

mRNA Expression by UniProt/SwissProt for ATL3 Gene

Tissue specificity: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level).
genes like me logo Genes that share expressions with ATL3: view

Expression partners for ATL3 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for ATL3 Gene

Orthologs for ATL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ATL3 35
  • 90.7 (n)
  • 94.27 (a)
ATL3 36
  • 94 (a)
(Canis familiaris)
Mammalia ATL3 35
  • 91.5 (n)
  • 94.09 (a)
ATL3 36
  • 95 (a)
(Mus musculus)
Mammalia Atl3 35
  • 90.02 (n)
  • 94.64 (a)
Atl3 16
Atl3 36
  • 95 (a)
(Pan troglodytes)
Mammalia ATL3 35
  • 99.74 (n)
  • 99.81 (a)
ATL3 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Atl3 35
  • 89.4 (n)
  • 94.29 (a)
(Monodelphis domestica)
Mammalia ATL3 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
-- 36
  • 90 (a)
(Anolis carolinensis)
Reptilia ATL3 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atl3 35
  • 70.57 (n)
  • 77.74 (a)
(Danio rerio)
Actinopterygii atl3 35
  • 67.14 (n)
  • 71.28 (a)
atl3 36
  • 69 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8856 35
fruit fly
(Drosophila melanogaster)
Insecta atl 36
  • 50 (a)
(Caenorhabditis elegans)
Secernentea atln-1 36
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1135 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for ATL3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 ATL3 Gene

Gene Tree for ATL3 (if available)
Gene Tree for ATL3 (if available)

Paralogs for ATL3 Gene

Paralogs for ATL3 Gene

Selected SIMAP similar genes for ATL3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATL3: view

Variants for ATL3 Gene

Sequence variations from dbSNP and Humsavar for ATL3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs476691 -- 63,652,971(-) aagtg(A/C)tgctg intron-variant
rs480977 -- 63,658,002(-) gtggg(C/T)gcctg intron-variant
rs482915 -- 63,669,924(-) GCTAC(C/T)TAAAC intron-variant
rs483144 -- 63,661,159(+) agaag(C/T)tgcag intron-variant
rs483897 -- 63,669,793(-) ttttt(G/T)gtatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATL3 Gene

Variant ID Type Subtype PubMed ID
nsv353 CNV Loss 18451855
nsv832183 CNV Loss 17160897

Relevant External Links for ATL3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATL3 Gene

Disorders for ATL3 Gene

(1) OMIM Diseases for ATL3 Gene (609369)


  • Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]: An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. {ECO:0000269 PubMed:24459106}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ATL3 Gene

genes like me logo Genes that share disorders with ATL3: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for ATL3 Gene

Publications for ATL3 Gene

  1. Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. (PMID: 18270207) Rismanchi N. … Blackstone C. (Hum. Mol. Genet. 2008) 2 3 4
  2. A class of dynamin-like GTPases involved in the generation of the tubular ER network. (PMID: 19665976) Hu J. … Blackstone C. (Cell 2009) 3 4
  3. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. (PMID: 24459106) Kornak U. … Kurth I. (Brain 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3

Products for ATL3 Gene

Sources for ATL3 Gene

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