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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: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 | -- |
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 |
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 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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary sensory, type if |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|
hereditary sensory neuropathy |
|
|
neuropathy |
|
|
spastic paraplegia 3a |
|
|