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This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
AP1S3 (Adaptor Related Protein Complex 1 Subunit Sigma 3) is a Protein Coding gene. Diseases associated with AP1S3 include Psoriasis 15, Pustular and Pustulosis Palmaris Et Plantaris. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005765 | lysosomal membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005905 | clathrin-coated pit | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | HIV Life Cycle |
.65
|
.45
|
3 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
4 | Vesicle-mediated transport | ||
5 | Human cytomegalovirus infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006605 | protein targeting | IMP | 24791904 |
GO:0006886 | intracellular protein transport | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016192 | vesicle-mediated transport | IEA,IBA | 21873635 |
GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||
SP5: | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AP1S3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AP1S3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AP1S3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ap1s3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ap1s3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AP1S3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AP1S3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AP1S3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AP1S3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap1s3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16505 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | AP1S3 (2 of 2) 31 |
|
OneToMany | |
ap1s3b 30 31 |
|
OneToMany | |||
Dr.1084 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12446 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | AP-1sigma 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | aps-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APS1 31 |
|
OneToMany | |
Rice (Oryza sativa) |
Liliopsida | Os03g0811300 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3488 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs116107386 | Risk Factor: Psoriasis 15, pustular, susceptibility to. Psoriasis 15, pustular (PSORS15) [MIM:616106] | 223,777,862(-) | A/Cp.Phe4Cys | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs138292988 | Likely Benign: Psoriasis 15, pustular, susceptibility to; not specified. Psoriasis 15, pustular (PSORS15) [MIM:616106] | 223,777,776(-) | G/Ap.Arg33Trp | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs149183052 | - | p.Thr22Ala | |||
rs202157374 | - | p.Ile83Thr | |||
rs34353588 | - | p.Leu79Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2763107 | CNV | loss | 21179565 |
esv3334220 | CNV | insertion | 20981092 |
esv3376309 | CNV | insertion | 20981092 |
esv3594453 | CNV | gain | 21293372 |
esv3594454 | CNV | loss | 21293372 |
nsv3183 | CNV | insertion | 18451855 |
nsv584549 | CNV | gain | 21841781 |
nsv834554 | CNV | loss | 17160897 |
nsv834555 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
psoriasis 15, pustular |
|
|
pustulosis palmaris et plantaris |
|
|
psoriasis 14, pustular |
|
|
psoriasis 15 |
|
|
pustular psoriasis |
|
|