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ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
ARL3 (ADP Ribosylation Factor Like GTPase 3) is a Protein Coding gene. Diseases associated with ARL3 include Joubert Syndrome 35 and Retinitis Pigmentosa 83. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is ARL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0003924 | GTPase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11847227 |
GO:0005525 | GTP binding | TAS,IDA | 18588884 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 16525022 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA,IDA | 16525022 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cargo trafficking to the periciliary membrane | ||
2 | Organelle biogenesis and maintenance |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IMP | 16525022 |
GO:0001822 | kidney development | IEA,ISS | -- |
GO:0006892 | post-Golgi vesicle-mediated transport | IMP | 20106869 |
GO:0006893 | Golgi to plasma membrane transport | IEA,ISS | -- |
GO:0007049 | cell cycle | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARL3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARL3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARL3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arl3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Arl3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARL3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arl3 30 |
|
||
Str.11398 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17388 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arl3 30 31 |
|
OneToOne | |
zgc73049 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004496 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | dnd 30 31 |
|
OneToOne | |
CG6560 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | arl-3 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5648 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617788 | Pathogenic: Progressive cone degeneration | 102,689,912(-) | C/A | MISSENSE_VARIANT | |
rs1564730440 | Uncertain Significance: Retinitis pigmentosa 83 | 102,689,939(-) | T/C | MISSENSE_VARIANT | |
rs770782663 | Uncertain Significance: JOUBERT SYNDROME 35; not provided. Joubert syndrome 35 (JBTS35) [MIM:618161] | 102,685,871(-) | C/Tp.Arg149His | MISSENSE_VARIANT | |
rs776901858 | Pathogenic: JOUBERT SYNDROME 35. Joubert syndrome 35 (JBTS35) [MIM:618161] | 102,685,872(-) | G/Ap.Arg149Cys | MISSENSE_VARIANT | |
VAR_081340 | Retinitis pigmentosa 83 (RP83) [MIM:618173] | p.Tyr90Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2668455 | CNV | deletion | 23128226 |
nsv831969 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
joubert syndrome 35 |
|
|
retinitis pigmentosa 83 |
|
|
cone-rod dystrophy 6 |
|
|
joubert syndrome 1 |
|
|
retinitis pigmentosa |
|
|