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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 Vesicle-mediated transport and HIV Life Cycle. 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 |
.64
|
.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 NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs138292988 | Likely Benign: Psoriasis 15, pustular, susceptibility to; not specified. Psoriasis 15, pustular (PSORS15) [MIM:616106] | 223,777,776(-) |
G/Ap.Arg33Trp NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
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 |
|
|