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ATL1 Gene

protein-coding   GIFtS: 56
GCID: GC14P050999

Atlastin GTPase 1

(Previous name: spastic paraplegia 3A (autosomal dominant))
(Previous symbols: SPG3, SPG3A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Atlastin GTPase 11 2     HSN1D2 5
SPG3A1 2 3 5     atlastin1
SPG31 2     Spastic Paraplegia 3A (Autosomal Dominant)1
Brain-Specific GTP-Binding Protein2 3     AD-FSP2
Guanine Nucleotide-Binding Protein 32 3     FSP12
Spastic Paraplegia 3 Protein A2 3     atlastin-12
GBP-32 3     atlastin12
GBP32 3     Guanylate-Binding Protein 32
GTP-Binding Protein 32 3     EC 3.6.5.-3
hGBP32 3     

External Ids:    HGNC: 112311   Entrez Gene: 510622   Ensembl: ENSG000001985137   OMIM: 6064395   UniProtKB: Q8WXF73   
ORGUL members:         

Export aliases for ATL1 gene to outside databases

Previous GC identifers: GC14P050097 GC14P031125


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 3, and spastic paraplegia 3a. GO annotations related to this gene include GTPase activity and identical protein binding. An important paralog of this gene is RNF112.

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7
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

Gene Wiki entry for ATL1 (Atlastin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATL1 gene promoter:
         Bach1   AP-1   Bach2   HTF   MyoD   CP2   HFH-1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATL1 promoter sequence
   Search Chromatin IP Primers for ATL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22.1   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q21.3

ATL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATL1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P050999:  view genomic region     (about GC identifiers)

Start:
50,999,227 bp from pter      End:
51,099,786 bp from pter
Size:
100,560 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7 (See protein sequence)
Recommended Name: Atlastin-1  
Size: 558 amino acids; 63544 Da
Subunit: 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
Sequence caution: Sequence=AAD20047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAK51160.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for ATL1 (see all 8):
3Q5D (3D)        3Q5E (3D)        3QNU (3D)        3QOF (3D)        4IDN (3D)        4IDO (3D)    
Secondary accessions: A6NND5 A8K2C0 G5E9T1 O95890 Q69YH7 Q96FK0
Alternative splicing: 2 isoforms:  Q8WXF7-1   Q8WXF7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATL1: NX_Q8WXF7

Explore proteomics data for ATL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys334
  • Modification sites at PhosphoSitePlus

  • See ATL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001121185.1  NP_056999.2  NP_853629.2  

    ENSEMBL proteins: 
     ENSP00000413675   ENSP00000452506   ENSP00000450989   ENSP00000351155   ENSP00000452074  
     ENSP00000451015   ENSP00000450897   ENSP00000451100   ENSP00000349534   ENSP00000346522  

    ATL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ATL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015894 Guanylate-bd_N
     IPR027417 P-loop_NTPase
     IPR003191 Guanylate-bd_C

    Graphical View of Domain Structure for InterPro Entry Q8WXF7

    ProtoNet protein and cluster: Q8WXF7

    UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7
    Similarity: Belongs to the GBP family. Atlastin subfamily


    ATL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATLA1_HUMAN, Q8WXF7
    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 Number (IUBMB): EC 3.6.5.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA14506257
    GO:0005515protein binding IPI16815977
    GO:0005525GTP binding ISS--
    GO:0042802identical protein binding IPI--
         
    ATL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atl1):
     behavior/neurological  limbs/digits/tail 

    ATL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atl1tm1Jfnk for ATL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATL1
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    miRNA
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    miRTarBase miRNAs that target ATL1:
    hsa-let-7f-5p (MIRT051409), hsa-mir-335-5p (MIRT018361), hsa-mir-9-5p (MIRT021430)

    Block miRNA regulation of human, mouse, rat ATL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATL1 (see all 15):
    hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-200a hsa-miR-501-3p hsa-miR-3914 hsa-miR-502-3p hsa-miR-141 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidATL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATL1

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    GenScript: all cDNA clones in your preferred vector (see all 3): ATL1 (NM_015915)
    Sino Biological Human cDNA Clone for ATL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATLA1_HUMAN, Q8WXF7: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
    Multi-pass membrane protein. Cell projection, axon (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytoskeleton1
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000137Golgi cis cisterna ISS--
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum IDA19665976
    GO:0005789endoplasmic reticulum membrane ISS--
    GO:0005794Golgi apparatus ISS--

    ATL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ATL1
        Cytoskeletal Signaling




    ATL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATL1
    Interactions:

        Search GeneGlobe Interaction Network for ATL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ATL1 (Q8WXF71 ENSP000003511554) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RTN4ENSP000003378384STRING: ENSP00000337838
    TMED2ENSP000002622254STRING: ENSP00000262225
    TMED9ENSP000003309454STRING: ENSP00000330945
    ARRDC3ENSP000002651384STRING: ENSP00000265138
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA14506257
    GO:0007029endoplasmic reticulum organization IDA19665976
    GO:0007409axonogenesis ISS--
    GO:0008219cell death IEA--
    GO:0051260protein homooligomerization IDA14506257

    ATL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATL1 (ATLA1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATL1 gene (3 alternative transcripts): 
    NM_001127713.1  NM_015915.4  NM_181598.3  

    Unigene Cluster for ATL1:

    Atlastin GTPase 1
    Hs.584905  [show with all ESTs]
    Unigene Representative Sequence: NM_001127713
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556478 ENST00000441560(uc001wyd.4) ENST00000555960 ENST00000553509
    ENST00000358385(uc001wyf.4 uc001wye.4 uc021rsw.1 uc021rsx.1)
    ENST00000554886 ENST00000557735 ENST00000553746 ENST00000555266 ENST00000556067
    ENST00000357032 ENST00000354525
    miRNA
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    Block miRNA regulation of human, mouse, rat ATL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATL1 (see all 15):
    hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-200a hsa-miR-501-3p hsa-miR-3914 hsa-miR-502-3p hsa-miR-141 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidATL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATL1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ATL1 (NM_015915)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATL1
    Primer
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    OriGene qPCR primer pairs and template standards for ATL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATL1
      QuantiTect SYBR Green Assays in human, mouse, rat ATL1
      QuantiFast Probe-based Assays in human, mouse, rat ATL1

    Additional mRNA sequence: 

    AF131801.1 AF444143.1 AK125161.1 AK223436.1 AK290185.1 AK312518.1 AL833591.1 AY032844.1 
    BC010708.2 CR457153.1 

    15 DOTS entries:

    DT.441169  DT.100794720  DT.100665255  DT.95261977  DT.95291648  DT.91724995  DT.91724997  DT.101965377 
    DT.100794710  DT.120765658  DT.99964716  DT.120765550  DT.120765631  DT.91724992  DT.120765519 

    Selected AceView cDNA sequences (see all 156):

    AF131801 AI969318 NM_181598 BQ446187 CR599776 AA704912 BX280776 AI800525 
    CA748825 BM710820 AA338476 BU625618 AA194727 AW450282 AL833591 BU742971 
    AW674605 AI879690 BM728950 AA772999 AW157688 BU783809 BF980279 BP360105 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATL1 (see all 6)    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for ATL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATATTCCA
    ATL1 Expression
    About this image


    ATL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Mesenchyme-like progenitor cells
     
     Mesenchymal Stem Cells (Uncategorized)
             Mesenchymal stem cells
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Neural Tube (Nervous System)
             Telencephalon
    ATL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584905

    UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7
    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)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atl11 , 5 atlastin GTPase 11, 5 90.74(n)1
    96.59(a)1
      12 (28.94 cM)5
    739911  NM_178628.51  NP_848743.11 
     698931055 
    chicken
    (Gallus gallus)
    Aves ATL11 atlastin GTPase 1 80.98(n)
    92.39(a)
      423577  XM_421466.4  XP_421466.4 
    lizard
    (Anolis carolinensis)
    Reptilia ATL16
    atlastin GTPase 1
    92(a)
    1 ↔ 1
    AAWZ02036468(1901-24750)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atl11 atlastin GTPase 1 80(n)
    89.06(a)
      779669  NM_001078754.1  NP_001072222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atl11 atlastin GTPase 1 72.04(n)
    80.43(a)
      571909  NM_001145700.1  NP_001139172.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta atl6
    atlastin
    53(a)
    1 → many
    3R(20451397-20460436)
    worm
    (Caenorhabditis elegans)
    Secernentea atln-16
    Protein Y54G2A.2, isoform a
    49(a)
    1 → many
    IV(2788692-2796813) WBGene00021868


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATL1 gene
    RNF1122  ATL32  ATL22  
    Selected SIMAP similar genes for ATL1 using alignment to 9 protein entries:     ATLA1_HUMAN (see all proteins) (see all similar genes):
    ATL1-alpha    BCL11B    SPG3A    ATL1-delta    ATL1-gamma    ATL3
    ATL2    BCL11A    REST    ZNF697    ZNF78L1    ZNF430
    kr-znf3    ZNF    ZFS-5    KLF1    PLZF    ZNF791

    ATL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATL1 (see all 1845)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0676554
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0676552 Q E mis40--------
    VAR_0655084
    Neuropathy, hereditary sensory, 1D (HSN1D)4--see VAR_0655082 E Q mis40--------
    VAR_0171494
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0171492 S Y mis40--------
    VAR_0655094
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0655092 L W mis40--------
    VAR_0676604
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0676602 R W mis40--------
    VAR_0171464
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0171462 R Q mis40--------
    VAR_0676574
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0676572 V I mis40--------
    VAR_0655114
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0655112 M V mis40--------
    VAR_0676594
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0676592 N T mis40--------
    VAR_0171484
    Spastic paraplegia 3, autosomal dominant (SPG3)4--see VAR_0171482 H R mis40--------

    HapMap Linkage Disequilibrium report for ATL1 (50999227 - 51099786 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666565CNV Deletion23128226
    esv2663828CNV Deletion23128226
    esv2665685CNV Deletion23128226
    nsv1274CNV Insertion18451855
    nsv1273CNV Loss18451855
    nsv826949CNV Gain20364138

    Human Gene Mutation Database (HGMD): ATL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606439   
    OMIM disorders: 182600  613708  
    UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for ATL1 (see all 34):    
    About MalaCards
    spastic paraplegia 3    spastic paraplegia 3a    spastic paraplegia 3a, autosomal dominant    hereditary sensory neuropathy type id
    neuropathy hereditary sensory and autonomic type 1    paraplegia    spasticity    neuropathy, hereditary sensory and autonomic, type ia
    retinitis pigmentosa 3    hereditary spastic paraplegia    sensory neuropathy type 1    donohue syndrome
    hereditary sensory neuropathy    autoimmune pancreatitis    axonal neuropathy    cerebral palsy
    motor neuron disease    neuropathy    retinitis pigmentosa    pertussis

    2 diseases from the University of Copenhagen DISEASES database for ATL1:
    Paraplegia     Donohue Syndrome

    ATL1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ATL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spg3a 98.5 79 16533974 (8), 15477516 (7), 14695538 (6), 19423133 (5) (see all 20)
    spastic paraplegia hereditary autosomal dominant 95.9 12 14607301 (2), 14695538 (2), 19459885 (2), 18270207 (1) (see all 7)
    spastic paraplegia hereditary 94.8 19 16533974 (3), 15477516 (2), 19423133 (1), 12939451 (1) (see all 13)
    spastic paraplegia 84.5 11 15742100 (2), 15517445 (2), 15596607 (1), 17321752 (1) (see all 5)

    Genetic Association Database (GAD): ATL1
    Human Genome Epidemiology (HuGE) Navigator: ATL1 (10 documents)

    Export disorders for ATL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATL1 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with ATL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. (PubMed id 16533974)1, 2, 9 Rainier S.... Fink J.K. (Arch. Neurol. 2006)
    2. 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. (PubMed id 14695538)1, 2, 9 Sauter S.M.... Neesen J. (Hum. Mutat. 2004)
    3. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. (PubMed id 17321752)1, 2, 9 Namekawa M.... Ruberg M. (Mol. Cell. Neurosci. 2007)
    4. Characterization of a novel SPG3A deletion in a French-Canadian family. (PubMed id 17427918)1, 2, 9 Meijer I.A.... Rouleau G.A. (Ann. Neurol. 2007)
    5. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. (PubMed id 16815977)1, 2, 9 Evans K.J.... Lauring B.P. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    6. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. (PubMed id 12939451)1, 2, 9 Dalpozzo F.... Martinuzzi A. (Neurology 2003)
    7. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (PubMed id 11685207)1, 2, 9 Zhao X.... Fink J.K. (Nat. Genet. 2001)
    8. Structural basis for conformational switching and GTP loading of the large G protein atlastin. (PubMed id 23334294)1, 2 Byrnes L.J....Sondermann H. (EMBO J. 2013)
    9. Targeted high-throughput sequencing identifies mutations in atlastin- 1 as a cause of hereditary sensory neuropathy type I. (PubMed id 21194679)1, 2 Guelly C.... Auer-Grumbach M. (Am. J. Hum. Genet. 2011)
    10. Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. (PubMed id 21368113)1, 2 Bian X....Hu J. (Proc. Natl. Acad. Sci. U.S.A. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51062 HGNC: 11231 AceView: SPG3A Ensembl:ENSG00000198513 euGenes: HUgn51062
    ECgene: ATL1 H-InvDB: ATL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATL1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATL1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATL1 gene:
    Search GeneIP for patents involving ATL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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