Aliases for ATL1 Gene
Aliases for ATL1 Gene
External Ids for ATL1 Gene
- HGNC: 11231
- Entrez Gene: 51062
- Ensembl: ENSG00000198513
- OMIM: 606439
- UniProtKB: Q8WXF7
Previous HGNC Symbols for ATL1 Gene
- SPG3
- SPG3A
Previous GeneCards Identifiers for ATL1 Gene
- GC14P050097
- GC14P050999
- GC14P031125
Summaries 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, Autosomal Dominant and Neuropathy, Hereditary Sensory, Type Id. Among its related pathways are Cytoskeletal Signaling. Gene Ontology (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 (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development.
Additional gene information for ATL1 Gene
- Monarch Initiative
- Search for ATL1 at DataMed
- Search for ATL1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATL1 Gene
Genomics for ATL1 Gene
GeneHancer (GH) Regulatory Elements for ATL1 Gene
Promoters and enhancers for ATL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATL1 Gene
Genomic Locations for ATL1 Gene
- chr14:50,532,509-50,633,068
- (GRCh38/hg38)
- Size:
- 100,560 bases
- Orientation:
- Plus strand
- chr14:50,999,227-51,099,786
- (GRCh37/hg19)
Genomic View for ATL1 Gene
Genes around ATL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q22.1 by Ensembl
- 14q22.1 by Entrez Gene
- 14q22.1 by HGNC
ATL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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. Interacts with ARL6IP1 (By similarity). Interacts with ZFYVE27 (PubMed:23969831).
- 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
Protein Expression for ATL1 Gene
Post-translational modifications for ATL1 Gene
No Post-translational modifications
Other Protein References for ATL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for ATL1 (atlastin)
-
Custom Antibody ServicesOriGene Antibodies for ATL1
- Novus Biologicals Antibodies for ATL1
-
Abcam antibodies for ATL1
- Invitrogen Antibodies for ATL1
- Search GeneTex for Antibodies for ATL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATL1
Protein Products
-
OriGene Purified Proteins for ATL1
- Search Origene for MassSpec and Protein Over-expression Lysates for ATL1
- Origene Custom Protein Services for ATL1
- Novus Biologicals proteins for ATL1
- Sino Biological Cell Lysates for ATL1
- Sino Biological Recombinant Proteins for ATL1
- antibodies-online: Search results for 7 available ATL1 Proteins ranked by validation data
- Compare Top ATL1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for ATL1
-
Abcam proteins for ATL1
Assay Products
- antibodies-online: Search results for available ATL1 related products ranked by validation data
No data available for DME Specific Peptides for ATL1 Gene
Domains & Families for ATL1 Gene
Gene Families for ATL1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ATL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8WXF7UniProtKB/Swiss-Prot:
ATLA1_HUMAN :- Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
- Family:
-
- Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
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 (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development.
Enzyme Numbers (IUBMB) for ATL1 Gene
Phenotypes From GWAS Catalog for ATL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA,IDA | 14506257 |
| GO:0005515 | protein binding | IPI | 16815977 |
| GO:0005525 | GTP binding | IEA,ISS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ATL1 Gene
- MGI mutant phenotypes for ATL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATL1:
Animal Models for ATL1 Gene
- MGI Knock Outs for ATL1:
-
- Atl1 tm1Jfnk
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATL1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ATL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATL1 gene
- Search ViGene Biosciences for ATL1
CRISPR Products
-
OriGene CRISPR knockouts for ATL1
- genomics-online: gRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
- Applied Biological Materials CRISPR for ATL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATL1
- GenScript: Design CRISPR guide RNA sequences for ATL1
miRNA for ATL1 Gene
- miRTarBase miRNAs that target ATL1
miRNA Products
- Search ViGene Biosciences for ATL1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ATL1
- Browse OriGene Inhibitory RNA Products For ATL1
- genomics-online: shRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATL1 gene
Clone Products
-
OriGene ORF clones in human for ATL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATL1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ATL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ATL1
- Applied Biological Materials Clones for ATL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ATL1
-
ViGene Biosciences adenoviral particle packaged cDNA for ATL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ATL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATL1 gene
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. Note=Localizes to endoplasmic reticulum tubular network (PubMed:27619977). {ECO:0000269 PubMed:27619977}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000137 | Golgi cis cisterna | ISS | -- |
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 19665976 |
| GO:0005789 | endoplasmic reticulum membrane | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATL1 Gene
Pathways & Interactions for ATL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeletal Signaling | ||
Pathways by source for ATL1 Gene
1 Cell Signaling Technology pathway for ATL1 Gene
Interacting Proteins for ATL1 Gene
Selected Interacting proteins:
Q8WXF7-ATLA1_HUMAN
ENSP00000351155
for ATL1 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007029 | endoplasmic reticulum organization | IDA | 19665976 |
| GO:0007409 | axonogenesis | IEA,ISS | -- |
| GO:0051260 | protein homooligomerization | IDA | 14506257 |
| GO:1990809 | endoplasmic reticulum tubular network membrane organization | IMP | 27619977 |
No data available for SIGNOR curated interactions for ATL1 Gene
Transcripts for ATL1 Gene
mRNA/cDNA for ATL1 Gene
- (3) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (156) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ATL1 Gene
- Atlastin GTPase 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ATL1
- genomics-online: gRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
- Applied Biological Materials CRISPR for ATL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATL1
- GenScript: Design CRISPR guide RNA sequences for ATL1
miRNA Products
- Search ViGene Biosciences for ATL1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ATL1
- Browse OriGene Inhibitory RNA Products For ATL1
- genomics-online: shRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATL1 gene
Clone Products
-
OriGene ORF clones in human for ATL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATL1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ATL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ATL1
- Applied Biological Materials Clones for ATL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for ATL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- NULL (Uncategorized)
- Neural Tube (Nervous System)
- Dermis (Integumentary System)
- Fibroblasts
- Mesenchymal Stem Cells (Uncategorized)
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).
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, MaxQB, and MOPED for ATL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ATL1 Gene:
ATL1SOURCE GeneReport for Unigene cluster for ATL1 Gene:
Hs.584905mRNA 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).
Evidence on tissue expression from TISSUES for ATL1 Gene
- Nervous system(5)
- Blood(4.2)
- Eye(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATL1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- prostate
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ATL1
-
OriGene qPCR primer pairs and template standards for ATL1
- genomics-online: primer clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
Orthologs for ATL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATL1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATL1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATL1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ATL1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATL1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Atl1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Atl1 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | ATL1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ATL1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atl1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atl1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | atl 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | atln-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for ATL1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ATL1 Gene
(40) SIMAP similar genes for ATL1 Gene using alignment to 9 proteins:
- BCL11B
- ATL1-alpha
- SPG3A
- ATL1-gamma
- ATL1-delta
- ATL3
- ATL2
- BCL11A
- ZNF78L1
- ZNF697
- REST
- kr-znf3
- ZNF430
- ZNF
- ZFS-5
- ZNF791
- PLZF
- KLF1
- ZNF72
- ZNF672
- ZFP64
- HZF16
- DKFZp434J0650
- ZFS-2
- A-328A3.4
- ZNF410
- PLAGL1
- DKFZp686N0199
- smap-7
- KLF4
- DKFZp686M04222
- ZNF770
- ZNF702P
- ZNFN1A2
- ZNF55
- ZNF56
- ZNF219
- ZFS-6
- RREB1
- DKFZp547H249
Variants for ATL1 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060183 | likely-benign, Spastic Paraplegia, Dominant | 50,632,960(+) | G/A | 3_prime_UTR_variant | |
| rs1060197 | benign, likely-benign, Spastic paraplegia 3, not specified, Spastic Paraplegia, Dominant | 50,591,009(+) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1060502971 | uncertain-significance, Spastic paraplegia 3 | 50,591,578(+) | A/G | coding_sequence_variant, missense_variant | |
| rs111734056 | likely-benign, Spastic Paraplegia, Dominant | 50,632,814(+) | G/A/C | 3_prime_UTR_variant | |
| rs119476046 | pathogenic, Spastic paraplegia 3, not provided, Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] | 50,613,343(+) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2663828 | CNV | deletion | 23128226 |
| esv2665685 | CNV | deletion | 23128226 |
| esv2666565 | CNV | deletion | 23128226 |
| esv3351061 | CNV | insertion | 20981092 |
| esv3551543 | CNV | deletion | 23714750 |
| esv3581192 | CNV | loss | 25503493 |
| esv3634482 | CNV | loss | 21293372 |
| esv3634483 | CNV | loss | 21293372 |
| esv3634484 | CNV | loss | 21293372 |
| nsv1039493 | CNV | gain | 25217958 |
| nsv1273 | CNV | deletion | 18451855 |
| nsv1274 | CNV | insertion | 18451855 |
| nsv474501 | CNV | novel sequence insertion | 20440878 |
| nsv564839 | CNV | loss | 21841781 |
| nsv826949 | CNV | gain | 20364138 |
| nsv974474 | CNV | duplication | 23825009 |
| nsv976339 | CNV | duplication | 23825009 |
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)
Additional Variant Information for ATL1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATL1 Gene
Disorders for ATL1 Gene
(24) MalaCards diseases for ATL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 3, autosomal dominant |
|
|
| neuropathy, hereditary sensory, type id |
|
|
| spastic paraplegia 3 |
|
|
| spastic paraplegia 3a |
|
|
| neuropathy, hereditary sensory, type ie |
|
|
Search ATL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATLA1_HUMAN- 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.
- 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:17321752, ECO:0000269 PubMed:17427918, ECO:0000269 PubMed:20718791, ECO:0000269 PubMed:20932283, ECO:0000269 PubMed:21336785, ECO:0000269 PubMed:23483706, ECO:0000269 PubMed:24473461, ECO:0000269 PubMed:24604904}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ATL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATL1 Gene
Publications for ATL1 Gene
- Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. (PMID: 17321752) Namekawa M … Ruberg M (Molecular and cellular neurosciences 2007) 3 4 22 58
- Characterization of a novel SPG3A deletion in a French-Canadian family. (PMID: 17427918) Meijer IA … Rouleau GA (Annals of neurology 2007) 3 4 22 58
- De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. (PMID: 16533974) Rainier S … Fink JK (Archives of neurology 2006) 3 4 22 58
- Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. (PMID: 16815977) Evans K … Lauring B (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58
- 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 SM … Neesen J (Human mutation 2004) 3 4 22 58
Products for ATL1 Gene
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- Invitrogen Antibodies for ATL1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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- Mammalian expression: PiggyBac
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- Addgene plasmids for ATL1
- antibodies-online: Search results for 61 available ATL1 Antibodies ranked by validation data
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- Search GeneTex for Antibodies for ATL1
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- ViGene Biosciences adenoviral particle packaged cDNA for ATL1 gene
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- Search ViGene Biosciences for ATL1
- Santa Cruz Biotechnology (SCBT) Antibodies for ATL1
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- Horizon Cell Lines for ATL1
- genomics-online: cdna clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
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- genomics-online: gRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
- genomics-online: primer clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
- genomics-online: shRNA clones - Search results for 123 available ATL1 gene related products
- Overview of 123 available ATL1 gene related products
Sources for ATL1 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
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- (73) Reactome
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- (92) COMPARTMENTS
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