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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 de... See more...
Aliases for ATL3 Gene
Aliases for ATL3 Gene
External Ids for ATL3 Gene
- HGNC: 24526
- NCBI Entrez Gene: 25923
- Ensembl: ENSG00000184743
- OMIM®: 609369
- UniProtKB/Swiss-Prot: Q6DD88
Previous GeneCards Identifiers for ATL3 Gene
- GC11M063154
- GC11M063391
- GC11M059725
Summaries 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 Hereditary Sensory And Autonomic Neuropathy Type 1. 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 Summary 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 (PubMed:18270207, PubMed:19665976, PubMed:27619977).
Additional gene information for ATL3 Gene
- HGNC (24526)
- NCBI Entrez Gene (25923)
- Ensembl (ENSG00000184743)
- OMIM® (609369)
- UniProtKB/Swiss-Prot (Q6DD88)
- Open Targets Platform(ENSG00000184743)
- Monarch Initiative
- Search for ATL3 at DataMed
- Search for ATL3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATL3 Gene
Genomics for ATL3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATL3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATL3
- Top Transcription factor binding sites by QIAGEN in the ATL3 gene promoter:
-
- ATF6
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
Genomic Locations for ATL3 Gene
Latest Assembly
- chr11:63,624,082-63,671,974
- (GRCh38/hg38)
- Size:
- 47,893 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:63,391,559-63,439,446
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 47,888 bases
- Orientation:
- Minus strand
- chr11:63,391,559-63,439,393
- (GRCh37/hg19 by Ensembl)
- Size:
- 47,835 bases
- Orientation:
- Minus strand
Genomic View for ATL3 Gene
Genes around ATL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.1 by HGNC
- 11q13.1 by Entrez Gene
- 11q13.1 by Ensembl
ATL3 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 ATL3 Gene
Proteins for ATL3 Gene
-
Protein details for ATL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6DD88-ATLA3_HUMAN
- Recommended name:
- Atlastin-3
- Protein Accession:
- Q6DD88
- Q8N7W5
- Q9H8Q5
- Q9UFL1
Protein attributes for ATL3 Gene
- Size:
- 541 amino acids
- Molecular mass:
- 60542 Da
- Quaternary structure:
-
- Interacts with ZFYVE27 (PubMed:23969831).
- SequenceCaution:
-
- Sequence=BAC05111.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
Protein Expression for ATL3 Gene
Post-translational modifications for ATL3 Gene
Other Protein References for ATL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for ATL3
-
Abcam antibodies for ATL3
- Invitrogen Antibodies for ATL3 (AFLGC-Atl3)
-
Biorbyt antibodies for ATL3
- Sino Biological Antibodies for ATL3
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for ATL3
- Origene Custom Protein Services for ATL3
- Sino Biological Recombinant Proteins for ATL3
- Browse Sino Biological Cell Lysates
- antibodies-online: Show 7 available ATL3 Proteins ranked by validation data
- Compare Top ATL3 Proteins
-
Quality Products:
-
Abcam proteins for ATL3
Assay products for research
- antibodies-online: Show 2 available ATL3 Elisa Kits ranked by validation data
- Compare Top ATL3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ATL3 Gene
Domains & Families for ATL3 Gene
Gene Families for ATL3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ATL3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATL3 Gene
- GenScript: Design optimal peptide antigens:
-
- Atlastin-3 (ATLA3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6DD88UniProtKB/Swiss-Prot:
ATLA3_HUMAN :- Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
- Family:
-
- Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
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 (PubMed:18270207, PubMed:19665976, PubMed:27619977).
Enzyme Numbers (IUBMB) for ATL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA,NAS | 18270207 |
| GO:0005515 | protein binding | IPI | 23969831 |
| GO:0005525 | GTP binding | IEA,IBA | 21873635 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ATL3 Gene
- MGI mutant phenotypes for ATL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATL3:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATL3 - Starting at $85 >
- * ATL3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATL3
miRNA for ATL3 Gene
- miRTarBase miRNAs that target ATL3
-
- mmu-miR-541-5p (MIRT008199)
- hsa-miR-1-3p (MIRT023532)
- hsa-miR-186-5p (MIRT044964)
- hsa-miR-20a-5p (MIRT050590)
- hsa-miR-106b-5p (MIRT441161)
- hsa-miR-6844 (MIRT481328)
- hsa-miR-4276 (MIRT481329)
- hsa-miR-194-3p (MIRT481330)
- hsa-miR-5693 (MIRT481331)
- hsa-miR-6792-3p (MIRT481332)
- hsa-miR-6768-5p (MIRT481333)
- hsa-miR-4691-5p (MIRT481334)
- hsa-miR-5583-3p (MIRT481335)
- hsa-miR-519c-3p (MIRT481336)
- hsa-miR-519b-3p (MIRT481337)
- hsa-miR-519a-3p (MIRT481338)
- hsa-miR-3121-3p (MIRT481339)
- hsa-miR-4796-3p (MIRT481340)
- hsa-miR-548ah-5p (MIRT481341)
- hsa-miR-3609 (MIRT481342)
- hsa-miR-142-5p (MIRT481343)
- hsa-miR-5590-3p (MIRT481344)
- hsa-miR-93-5p (MIRT481345)
- hsa-miR-106a-5p (MIRT481346)
- hsa-miR-526b-3p (MIRT481347)
- hsa-miR-17-5p (MIRT481348)
- hsa-miR-519d-3p (MIRT481349)
- hsa-miR-20b-5p (MIRT481350)
- hsa-miR-330-3p (MIRT481351)
- hsa-miR-6513-5p (MIRT669432)
- hsa-miR-887-5p (MIRT669433)
- hsa-miR-3913-5p (MIRT669434)
- hsa-miR-3122 (MIRT669435)
- hsa-miR-450a-1-3p (MIRT669436)
- hsa-miR-7109-5p (MIRT669437)
- hsa-miR-6780a-5p (MIRT669438)
- hsa-miR-6779-5p (MIRT669439)
- hsa-miR-3689c (MIRT669440)
- hsa-miR-3689b-3p (MIRT669441)
- hsa-miR-3689a-3p (MIRT669442)
- hsa-miR-30b-3p (MIRT669443)
- hsa-miR-1273h-5p (MIRT669444)
- hsa-miR-6788-5p (MIRT669445)
- hsa-miR-30c-2-3p (MIRT669446)
- hsa-miR-30c-1-3p (MIRT669447)
- hsa-miR-6885-5p (MIRT669448)
- hsa-miR-328-5p (MIRT669449)
- hsa-miR-6887-5p (MIRT669450)
- hsa-miR-6795-5p (MIRT669451)
- hsa-miR-7111-5p (MIRT669452)
- hsa-miR-6870-5p (MIRT669453)
- hsa-miR-5698 (MIRT669454)
- hsa-miR-4723-5p (MIRT669455)
- hsa-miR-6799-5p (MIRT669456)
- hsa-miR-6883-5p (MIRT669457)
- hsa-miR-6785-5p (MIRT669458)
- hsa-miR-4728-5p (MIRT669459)
- hsa-miR-149-3p (MIRT669460)
- hsa-miR-7106-5p (MIRT669461)
- hsa-miR-5787 (MIRT669462)
- hsa-miR-4505 (MIRT669463)
- hsa-miR-6884-5p (MIRT669464)
- hsa-miR-4731-5p (MIRT669465)
- hsa-miR-485-5p (MIRT669466)
- hsa-miR-637 (MIRT669467)
- hsa-miR-383-3p (MIRT669468)
- hsa-miR-7977 (MIRT676052)
- hsa-miR-24-3p (MIRT676053)
- hsa-miR-4284 (MIRT676054)
- hsa-miR-4743-5p (MIRT676055)
- hsa-miR-564 (MIRT676056)
- hsa-miR-1248 (MIRT676057)
- hsa-miR-1237-3p (MIRT676058)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATL3
- Browse OriGene Inhibitory RNA Products For ATL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATL3
Clone products for research
- Applied Biological Materials (abm): Clones for ATL3 - Starting at $45 >
- * ATL3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208642
- MG217593
- MR208642
- MR208642L3
- MR208642L4
- MR217593
- MR217593L3
- MR217593L4
- RC209658
- RC209658L1
- RC209658L2
- RC209658L3
- RC209658L4
- RC238708
- RG209658
- RR202781
- RR202781L3
- RR202781L4
- MR208642L3V
- MR208642L4V
- MR217593L3V
- MR217593L4V
- RC209658L1V
- RC209658L2V
- RC209658L3V
- RC209658L4V
- RR202781L3V
- RR202781L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATL3
- Addgene plasmids for ATL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATL3
Cell Lines for research
-
Horizon Cell Lines for ATL3
No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:23969831, ECO:0000269 PubMed:24459106, ECO:0000269 PubMed:27619977}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| peroxisome | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | 18270207 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA,IDA | 18270207 |
| GO:0071782 | endoplasmic reticulum tubular network | IDA | 23969831 |
Pathways & Interactions for ATL3 Gene
Interacting Proteins for ATL3 Gene
Selected Interacting proteins:
Q6DD88-ATLA3_HUMAN
ENSP00000381844
for ATL3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATL3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006888 | NOT ER to Golgi vesicle-mediated transport | IMP | 18270207 |
| GO:0007029 | endoplasmic reticulum organization | IBA,IMP | 18270207 |
| GO:0007030 | Golgi organization | IMP | 18270207 |
| GO:0051260 | protein homooligomerization | IBA,IDA | 18270207 |
| GO:1903373 | positive regulation of endoplasmic reticulum tubular network organization | IMP | 27619977 |
No data available for Pathways by source and SIGNOR curated interactions for ATL3 Gene
Transcripts for ATL3 Gene
mRNA/cDNA for ATL3 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000398868 6899 nts (view in UCSC)
- ENST00000535789 828 nts (view in UCSC)
- ENST00000538786 1920 nts (view in UCSC)
- ENST00000540699 714 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATL3 - Starting at $85 >
- * ATL3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATL3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATL3
- Browse OriGene Inhibitory RNA Products For ATL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATL3
Clone products for research
- Applied Biological Materials (abm): Clones for ATL3 - Starting at $45 >
- * ATL3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208642
- MG217593
- MR208642
- MR208642L3
- MR208642L4
- MR217593
- MR217593L3
- MR217593L4
- RC209658
- RC209658L1
- RC209658L2
- RC209658L3
- RC209658L4
- RC238708
- RG209658
- RR202781
- RR202781L3
- RR202781L4
- MR208642L3V
- MR208642L4V
- MR217593L3V
- MR217593L4V
- RC209658L1V
- RC209658L2V
- RC209658L3V
- RC209658L4V
- RR202781L3V
- RR202781L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATL3
- Addgene plasmids for ATL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATL3
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||
| SP4: |
Relevant External Links for ATL3 Gene
- GeneLoc Exon Structure for
- ATL3
Expression for ATL3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATL3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATL3
SOURCE GeneReport for Unigene cluster for ATL3 Gene:
Hs.356719mRNA Expression by UniProt/SwissProt for ATL3 Gene:
Q6DD88-ATLA3_HUMAN
Tissue specificity:
Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level).
Evidence on tissue expression from TISSUES for ATL3 Gene
- Nervous system(4.8)
- Liver(4.4)
- Pancreas(4.2)
- Kidney(2.1)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATL3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
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 for research
-
OriGene qPCR primer pairs for ATL3
-
OriGene qPCR primer pairs and template standards for ATL3
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATL3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATL3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATL3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atl3 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Atl3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATL3 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATL3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atl3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atl3 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8856 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | atl 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | atln-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1135 30 |
|
- Species where no ortholog for ATL3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
- ENSEMBL:
- Gene Tree for ATL3 (if available)
- TreeFam:
- Gene Tree for ATL3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATL3: view image
Paralogs for ATL3 Gene
Variants for ATL3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATL3 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835708 | Uncertain Significance: Hereditary sensory neuropathy type IF | 63,629,395(-) |
T/C NM_015459.5(ATL3):c.1550A>G (p.His517Arg) |
MISSENSE | |
| 837342 | Uncertain Significance: Hereditary sensory neuropathy type IF | 63,629,347(-) |
C/T NM_015459.5(ATL3):c.1598G>A (p.Arg533Lys) |
MISSENSE | |
| 838683 | Uncertain Significance: Hereditary sensory neuropathy type IF | 63,631,414(-) |
C/T NM_015459.5(ATL3):c.1165G>A (p.Glu389Lys) |
MISSENSE | |
| 839689 | Uncertain Significance: Hereditary sensory neuropathy type IF | 63,651,949(-) |
A/C NM_015459.5(ATL3):c.548T>G (p.Leu183Arg) |
MISSENSE | |
| 843632 | Uncertain Significance: Hereditary sensory neuropathy type IF | 63,636,287(-) |
C/T NM_015459.5(ATL3):c.898G>A (p.Val300Ile) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.28;
70.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATL3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATL3 Gene
Disorders for ATL3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory, type if |
|
|
| hereditary sensory and autonomic neuropathy type 1 |
|
|
| hereditary sensory neuropathy |
|
|
| neuropathy |
|
|
| spastic paraplegia 3a |
|
|
Search ATL3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATLA3_HUMAN- 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 variants affecting the gene represented in this entry.
Additional Disease Information for ATL3
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ATL3 Gene
Publications for ATL3 Gene
- Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. (PMID: 24459106) Kornak U … Kurth I (Brain : a journal of neurology 2014) 3 4 74
- Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. (PMID: 18270207) Rismanchi N … Blackstone C (Human molecular genetics 2008) 2 3 4
- Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network. (PMID: 27619977) Wang S … Rapoport TA (eLife 2016) 3 4
- Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J … Blackstone C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
- 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
ExternalLinks
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