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This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
AP2A1 (Adaptor Related Protein Complex 2 Subunit Alpha 1) is a Protein Coding gene. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include binding and protein C-terminus binding. An important paralog of this gene is AP2A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16262731 |
GO:0008022 | protein C-terminus binding | IEA | -- |
GO:0019901 | protein kinase binding | IEA,ISS | -- |
GO:0035615 | contributes_to clathrin adaptor activity | TAS | 12121421 |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005905 | clathrin-coated pit | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016323 | basolateral plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Endocytic Trafficking of EGFR |
Endocytic Trafficking of EGFR
.41
|
Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
.35
|
3 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.69
|
|
4 | HIV Life Cycle |
.65
|
.45
|
5 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | NAS | 12036598 |
GO:0006895 | Golgi to endosome transport | NAS | 12036598 |
GO:0006897 | endocytosis | NAS | 12036598 |
GO:0006898 | receptor-mediated endocytosis | IBA | 21873635 |
GO:0010976 | positive regulation of neuron projection development | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AP2A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AP2A1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AP2A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AP2A1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AP2A1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ap2a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ap2a1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | AP2A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap2a1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ap2a1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | alpha-Adaptin 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | apa-2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APL3 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9573 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3545 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
734349 | Benign: not provided | 49,802,561(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
782059 | Benign: not provided | 49,799,456(+) | C/T | SYNONYMOUS_VARIANT | |
rs17851121 | - | p.Pro270Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
esv3427277 | CNV | duplication | 20981092 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv1160655 | CNV | deletion | 26073780 |
nsv470150 | CNV | gain | 18288195 |
nsv518114 | CNV | loss | 19592680 |
nsv524546 | CNV | loss | 19592680 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
No disorders were found for AP2A1 Gene.