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ATL1 (atlastin GTPase 1)

Identity

Alias_namesSPG3
SPG3A
spastic paraplegia 3A (autosomal dominant)
Alias_symbol (synonym)FSP1
AD-FSP
Other aliasGBP3
HSN1D
atlastin1
HGNC (Hugo) ATL1
LocusID (NCBI) 51062
Atlas_Id 55983
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 50999800 and ends at 51099784 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ASCC3 (6q16.3) / ATL1 (14q22.1)ATL1 (14q22.1) / PMPCB (7q22.1)CDKL1 (14q21.3) / ATL1 (14q22.1)
SAV1 (14q22.1) / ATL1 (14q22.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATL1   11231
LRG (Locus Reference Genomic)LRG_360
Cards
Entrez_Gene (NCBI)ATL1  51062  atlastin GTPase 1
AliasesAD-FSP; FSP1; GBP3; HSN1D; 
SPG3; SPG3A; atlastin1
GeneCards (Weizmann)ATL1
Ensembl hg19 (Hinxton)ENSG00000198513 [Gene_View]  chr14:50999800-51099784 [Contig_View]  ATL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198513 [Gene_View]  chr14:50999800-51099784 [Contig_View]  ATL1 [Vega]
ICGC DataPortalENSG00000198513
TCGA cBioPortalATL1
AceView (NCBI)ATL1
Genatlas (Paris)ATL1
WikiGenes51062
SOURCE (Princeton)ATL1
Genetics Home Reference (NIH)ATL1
Genomic and cartography
GoldenPath hg19 (UCSC)ATL1  -     chr14:50999800-51099784 +  14q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATL1  -     14q22.1   [Description]    (hg38-Dec_2013)
EnsemblATL1 - 14q22.1 [CytoView hg19]  ATL1 - 14q22.1 [CytoView hg38]
Mapping of homologs : NCBIATL1 [Mapview hg19]  ATL1 [Mapview hg38]
OMIM182600   606439   613708   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001127713 NM_015915 NM_181598
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATL1
Cluster EST : UnigeneHs.584905 [ NCBI ]
CGAP (NCI)Hs.584905
Alternative Splicing GalleryENSG00000198513
Gene ExpressionATL1 [ NCBI-GEO ]   ATL1 [ EBI - ARRAY_EXPRESS ]   ATL1 [ SEEK ]   ATL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51062
GTEX Portal (Tissue expression)ATL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXF7
Splice isoforms : SwissVarQ8WXF7
Catalytic activity : Enzyme3.6.5.- [ Enzyme-Expasy ]   3.6.5.-3.6.5.- [ IntEnz-EBI ]   3.6.5.- [ BRENDA ]   3.6.5.- [ KEGG ]   
PhosPhoSitePlusQ8WXF7
Domaine pattern : Prosite (Expaxy)G_GB1_RHD3 (PS51715)   
Domains : Interpro (EBI)G_GB1_RHD3_dom    Guanylate-bd_C    Guanylate-bd_N    P-loop_NTPase   
Domain families : Pfam (Sanger)GBP (PF02263)   
Domain families : Pfam (NCBI)pfam02263   
Conserved Domain (NCBI)ATL1
DMDM Disease mutations51062
Blocks (Seattle)ATL1
PDB (SRS)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
PDB (PDBSum)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
PDB (IMB)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
PDB (RSDB)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
Structural Biology KnowledgeBase3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
SCOP (Structural Classification of Proteins)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
CATH (Classification of proteins structures)3Q5D    3Q5E    3QNU    3QOF    4IDN    4IDO    4IDP    4IDQ   
SuperfamilyQ8WXF7
Human Protein AtlasENSG00000198513
Peptide AtlasQ8WXF7
HPRD05918
IPIIPI00103530   IPI00373946   IPI01025538   IPI01025884   IPI01024869   IPI01024725   IPI01025084   IPI01024957   IPI00479177   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXF7
IntAct (EBI)Q8WXF7
FunCoupENSG00000198513
BioGRIDATL1
STRING (EMBL)ATL1
ZODIACATL1
Ontologies - Pathways
QuickGOQ8WXF7
Ontology : AmiGOGolgi cis cisterna  Golgi membrane  GTPase activity  protein binding  GTP binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  endoplasmic reticulum organization  axonogenesis  integral component of membrane  axon  identical protein binding  identical protein binding  protein homooligomerization  endoplasmic reticulum tubular network  
Ontology : EGO-EBIGolgi cis cisterna  Golgi membrane  GTPase activity  protein binding  GTP binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  endoplasmic reticulum organization  axonogenesis  integral component of membrane  axon  identical protein binding  identical protein binding  protein homooligomerization  endoplasmic reticulum tubular network  
NDEx NetworkATL1
Atlas of Cancer Signalling NetworkATL1
Wikipedia pathwaysATL1
Orthology - Evolution
OrthoDB51062
GeneTree (enSembl)ENSG00000198513
Phylogenetic Trees/Animal Genes : TreeFamATL1
HOVERGENQ8WXF7
HOGENOMQ8WXF7
Homologs : HomoloGeneATL1
Homology/Alignments : Family Browser (UCSC)ATL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATL1
dbVarATL1
ClinVarATL1
1000_GenomesATL1 
Exome Variant ServerATL1
ExAC (Exome Aggregation Consortium)ATL1 (select the gene name)
Genetic variants : HAPMAP51062
Genomic Variants (DGV)ATL1 [DGVbeta]
DECIPHER (Syndromes)14:50999800-51099784  ENSG00000198513
CONAN: Copy Number AnalysisATL1 
Mutations
ICGC Data PortalATL1 
TCGA Data PortalATL1 
Broad Tumor PortalATL1
OASIS PortalATL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATL1
DgiDB (Drug Gene Interaction Database)ATL1
DoCM (Curated mutations)ATL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATL1 (select a term)
intoGenATL1
Cancer3DATL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182600    606439    613708   
Orphanet10423    14695   
MedgenATL1
Genetic Testing Registry ATL1
NextProtQ8WXF7 [Medical]
TSGene51062
GENETestsATL1
Huge Navigator ATL1 [HugePedia]
snp3D : Map Gene to Disease51062
BioCentury BCIQATL1
ClinGenATL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51062
Chemical/Pharm GKB GenePA36061
Clinical trialATL1
Miscellaneous
canSAR (ICR)ATL1 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATL1
EVEXATL1
GoPubMedATL1
iHOPATL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:56:52 CET 2017

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