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One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
AP2S1 (Adaptor Related Protein Complex 2 Subunit Sigma 1) is a Protein Coding gene. Diseases associated with AP2S1 include Hypocalciuric Hypercalcemia, Familial, Type Iii and Familial Hypocalciuric Hypercalcemia. 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 transporter activity and clathrin adaptor activity. An important paralog of this gene is AP1S2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0035615 | contributes_to clathrin adaptor activity | TAS | 12121421 |
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 | -- |
GO:0030117 | membrane coat | 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 | IEA | -- |
GO:0006897 | endocytosis | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | · | 7g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AP2S1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AP2S1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AP2S1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ap2s1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ap2s1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AP2S1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AP2S1 31 |
|
OneToOne | |
LOC100859555 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | AP2S1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap2s1 30 |
|
||
Str.5120 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24043 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ap2s1 30 31 |
|
OneToOne | |
Dr.28390 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4730 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | AP-2&sgr; 32 |
|
|
|
AP-2sigma 30 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001703 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | aps-2 30 31 32 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR370C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APS2 30 33 |
|
||
APS1 31 |
|
OneToMany | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B06545g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G47830 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0207300 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3174 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9849 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07989 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | aps2 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7881 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057522809 | Uncertain Significance: not provided | 46,839,553(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
rs1064795235 | Uncertain Significance: not provided | 46,846,118(-) | G/A | MISSENSE_VARIANT | |
rs1555748483 | Uncertain Significance: not provided | 46,838,765(-) | A/G | MISSENSE_VARIANT | |
rs312186 | Benign: not specified | 46,839,460(-) | C/T | INTRON_VARIANT | |
rs397514498 | Pathogenic: Hypocalciuric hypercalcemia, familial, type III. Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] | 46,846,103(-) | G/Ap.Arg15Cys | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3608n100 | CNV | gain | 25217958 |
esv3893224 | CNV | gain | 25118596 |
nsv138519 | CNV | deletion | 16902084 |
nsv833850 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypocalciuric hypercalcemia, familial, type iii |
|
|
familial hypocalciuric hypercalcemia |
|
|
hypocalciuric hypercalcemia, familial, type ii |
|
|
hypocalciuric hypercalcemia, familial, type i |
|
|
chondrocalcinosis |
|
|