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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 described. [provided by RefSeq, Feb 2014]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003924 | GTPase activity | NAS,IEA | 18270207 |
GO:0005515 | protein binding | IPI | 23969831 |
GO:0005525 | GTP binding | IBA,IEA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0042802 | identical protein binding | IDA | 18270207 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | 18270207 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | HDA,IEA | 19946888 |
GO:0016021 | integral component of membrane | IDA,IEA | 18270207 |
GO:0071782 | endoplasmic reticulum tubular network | IDA | 23969831 |
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 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ATL3 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ATL3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ATL3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Atl3 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
rat (Rattus norvegicus) |
Mammalia | Atl3 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ATL3 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ATL3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | atl3 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | atl3 33 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8856 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | atl 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | atln-1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
Cin.1135 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1135 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1031320296 | uncertain-significance, Hereditary sensory neuropathy type IF | 63,636,332(-) | T/C | coding_sequence_variant, missense_variant | |
rs1045392653 | uncertain-significance, not provided, Hereditary sensory neuropathy type IF | 63,644,219(-) | A/C/T | coding_sequence_variant, missense_variant | |
rs1052779395 | uncertain-significance, Hereditary sensory neuropathy type IF | 63,643,411(-) | G/C/T | coding_sequence_variant, missense_variant | |
rs1057522704 | uncertain-significance, not provided, Hereditary sensory neuropathy type IF | 63,631,157(-) | G/C | coding_sequence_variant, missense_variant | |
rs112847445 | benign, Hereditary sensory neuropathy type IF | 63,631,078(-) | C/T | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary sensory, type if |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|
hereditary sensory neuropathy |
|
|
spastic paraplegia 3a |
|
|
neuropathy |
|
|