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This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
GGA3 (Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3) is a Protein Coding gene. Diseases associated with GGA3 include Nephrotic Syndrome, Type 17. Among its related pathways are Vesicle-mediated transport and Neuroscience. Gene Ontology (GO) annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11387475 |
GO:0030306 | ADP-ribosylation factor binding | IEA,IDA | 10749927 |
GO:0043130 | ubiquitin binding | IDA | 20484053 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IDA | -- |
GO:0005802 | trans-Golgi network | IEA,IDA | 10749927 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | MET promotes cell motility |
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3 | Neuroscience | ||
4 | Lysosome |
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5 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IEA,NAS | 10749927 |
GO:0015031 | protein transport | IEA | -- |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0031647 | regulation of protein stability | IDA | 17553422 |
GO:0031648 | protein destabilization | IDA | 20484053 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | - | - | |||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | - | - | |||||||||||||||||
SP9: | - | - | - | ||||||||||||||||
SP10: | |||||||||||||||||||
SP11: | |||||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | GGA3 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | GGA3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gga3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gga3 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | GGA3 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | GGA3 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | GGA3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | GGA3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gga3 32 |
|
||
Str.14778 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6656 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | gga3 33 32 |
|
OneToMany | |
GGA3 (2 of 2) 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Gga 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | apt-9 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GGA2 33 |
|
ManyToMany | |
GGA1 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1321552081 | likely-pathogenic, NEPHROTIC SYNDROME, TYPE 17 | 75,234,762(-) | G/A/C | genic_downstream_transcript_variant, intron_variant | |
rs1568094661 | uncertain-significance, NEPHROTIC SYNDROME, TYPE 17 | 75,232,884(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
rs368572297 | likely-pathogenic, NEPHROTIC SYNDROME, TYPE 17 | 75,235,641(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
rs776324450 | A breast cancer sample | 75,239,434(-) | G/A/T | coding_sequence_variant, missense_variant | |
rs115955242 | likely-benign, not specified | 75,262,530(-) | T/C | upstream_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 17 |
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