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TBC1D17 (TBC1 Domain Family Member 17) is a Protein Coding gene. Diseases associated with TBC1D17 include Glaucoma, Normal Tension and Glaucoma, Primary Open Angle. Among its related pathways are Vesicle-mediated transport and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D15.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0031267 | small GTPase binding | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005776 | autophagosome | IEA | -- |
GO:0005829 | cytosol | IDA | 17562788 |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO:0055037 | recycling endosome | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Mitophagy - animal | ||
3 | TBC/RABGAPs |
Symbol | External ID(s) | Details |
---|---|---|
OPTN | ||
CCDC121 | ||
CDKN2D | ||
CORO1B | ||
ENSG00000272822 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006914 | autophagy | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0042147 | retrograde transport, endosome to Golgi | IMP | 17562788 |
GO:0090630 | activation of GTPase activity | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - |
ExUns: | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBC1D17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBC1D17 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBC1D17 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbc1d17 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbc1d17 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TBC1D17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBC1D17 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbc1d17 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbc1d17 30 31 |
|
OneToOne | |
wufc56c02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11490 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tbc-15 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GYP7 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4773 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
dgv54n68 | CNV | loss | 17160897 |
esv3644628 | CNV | gain | 21293372 |
esv3644630 | CNV | gain | 21293372 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv2519 | CNV | deletion | 18451855 |
nsv524068 | CNV | loss | 19592680 |
nsv526372 | CNV | loss | 19592680 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glaucoma, normal tension |
|
|
glaucoma, primary open angle |
|
|
parkinson disease, late-onset |
|
|