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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 ce... See more...
Aliases for AP1S3 Gene
Aliases for AP1S3 Gene
- Adaptor Related Protein Complex 1 Subunit Sigma 3 2 3 5
- Clathrin Assembly Protein Complex 1 Sigma-1C Small Chain 3 4
- Adaptor-Related Protein Complex 1 Subunit Sigma-1C 3 4
- Adaptor Related Protein Complex 1 Sigma 3 Subunit 2 3
- Golgi Adaptor HA1/AP1 Adaptin Sigma-1C Subunit 3 4
- Sigma 1C Subunit Of AP-1 Clathrin 3 4
- AP-1 Complex Subunit Sigma-3 3 4
External Ids for AP1S3 Gene
- HGNC: 18971
- NCBI Entrez Gene: 130340
- Ensembl: ENSG00000152056
- OMIM®: 615781
- UniProtKB/Swiss-Prot: Q96PC3
Previous GeneCards Identifiers for AP1S3 Gene
- GC02M222638
- GC02M223342
- GC02M224580
- GC02M224824
- GC02M224447
- GC02M224325
- GC02M216442
- GC02M224616
Summaries for AP1S3 Gene
-
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]
GeneCards Summary for AP1S3 Gene
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.
UniProtKB/Swiss-Prot Summary for AP1S3 Gene
-
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904).
Additional gene information for AP1S3 Gene
- HGNC (18971)
- NCBI Entrez Gene (130340)
- Ensembl (ENSG00000152056)
- OMIM® (615781)
- UniProtKB/Swiss-Prot (Q96PC3)
- Open Targets Platform(ENSG00000152056)
- Monarch Initiative
- Search for AP1S3 at DataMed
- Search for AP1S3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP1S3 Gene
Genomics for AP1S3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AP1S3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AP1S3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP1S3
- Top Transcription factor binding sites by QIAGEN in the AP1S3 gene promoter:
-
- Arnt
- c-Myc
- Evi-1
- HSF1 (long)
- HSF1short
- LyF-1
- Max
- Meis-1
- Meis-1a
- Meis-1b
Genomic Locations for AP1S3 Gene
Latest Assembly
- chr2:223,751,686-223,838,027
- (GRCh38/hg38)
- Size:
- 86,342 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:224,620,043-224,702,299
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 82,257 bases
- Orientation:
- Minus strand
- chr2:224,616,403-224,702,744
- (GRCh37/hg19 by Ensembl)
- Size:
- 86,342 bases
- Orientation:
- Minus strand
Genomic View for AP1S3 Gene
Genes around AP1S3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.1 by HGNC
- 2q36.1 by Entrez Gene
- 2q36.1 by Ensembl
AP1S3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AP1S3 Gene
Proteins for AP1S3 Gene
-
Protein details for AP1S3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96PC3-AP1S3_HUMAN
- Recommended name:
- AP-1 complex subunit sigma-3
- Protein Accession:
- Q96PC3
- B4DQZ1
- Q8WTY1
- Q96DD1
Protein attributes for AP1S3 Gene
- Size:
- 154 amino acids
- Molecular mass:
- 18280 Da
- Quaternary structure:
-
- Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).
- Miscellaneous:
-
- [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Three dimensional structures from OCA and Proteopedia for AP1S3 Gene
Protein Expression for AP1S3 Gene
Post-translational modifications for AP1S3 Gene
Other Protein References for AP1S3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences AP1S3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for AP1S3
- Novus Biologicals Antibodies for AP1S3
-
Abcam antibodies for AP1S3
- Invitrogen Antibodies for AP1S3 (AFLGC-AP1S3)
Protein products for research
-
OriGene Purified Proteins for AP1S3
- Search Origene for MassSpec and Protein Over-expression Lysates for AP1S3
- Origene Custom Protein Services for AP1S3
- Novus Biologicals proteins for AP1S3
- antibodies-online: Show 3 available AP1S3 Proteins ranked by validation data
- Compare Top AP1S3 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for AP1S3 Gene
Domains & Families for AP1S3 Gene
Gene Families for AP1S3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for AP1S3 Gene
- InterPro:
- Blocks:
-
- Clathrin adaptor complex, small chain
- ProtoNet:
Suggested Antigen Peptide Sequences for AP1S3 Gene
- GenScript: Design optimal peptide antigens:
-
- Sigma1C-adaptin (AP1S3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96PC3- Family:
-
- Belongs to the adaptor complexes small subunit family.
Function for AP1S3 Gene
Molecular function for AP1S3 Gene
- UniProtKB/Swiss-Prot Function:
- Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904).
Phenotypes From GWAS Catalog for AP1S3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for AP1S3 Gene
- GenomeRNAi human phenotypes for AP1S3:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AP1S3 - Starting at $85 >
- * AP1S3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AP1S3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1S3
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1S3
miRNA for AP1S3 Gene
- miRTarBase miRNAs that target AP1S3
-
- hsa-miR-1-3p (MIRT023729)
- hsa-miR-101-3p (MIRT027290)
- hsa-miR-1273e (MIRT454177)
- hsa-miR-7847-3p (MIRT454178)
- hsa-miR-6880-5p (MIRT454179)
- hsa-miR-6851-5p (MIRT454180)
- hsa-miR-3689d (MIRT454181)
- hsa-miR-6499-3p (MIRT454182)
- hsa-miR-6086 (MIRT454183)
- hsa-miR-377-5p (MIRT454184)
- hsa-miR-6134 (MIRT454185)
- hsa-miR-4487 (MIRT454186)
- hsa-miR-558 (MIRT454187)
- hsa-miR-3160-3p (MIRT454188)
- hsa-miR-4257 (MIRT454189)
- hsa-miR-6500-3p (MIRT454190)
- hsa-miR-4705 (MIRT454191)
- hsa-miR-3614-5p (MIRT454192)
- hsa-miR-1295b-5p (MIRT454193)
- hsa-miR-1912 (MIRT454194)
- hsa-miR-34b-3p (MIRT454196)
- hsa-miR-6516-5p (MIRT560153)
- hsa-miR-455-3p (MIRT560154)
- mmu-miR-1943-5p (MIRT599720)
- mmu-miR-1953 (MIRT602784)
- mmu-miR-3473a (MIRT602785)
- mmu-miR-882 (MIRT602786)
- mmu-miR-185-5p (MIRT602787)
- mmu-miR-3076-5p (MIRT605877)
- mmu-miR-3109-3p (MIRT605878)
- hsa-miR-498 (MIRT671510)
- hsa-miR-183-5p (MIRT671511)
- hsa-miR-6869-5p (MIRT671512)
- hsa-miR-4279 (MIRT671513)
- hsa-miR-1200 (MIRT671514)
- hsa-miR-6829-3p (MIRT671515)
- hsa-miR-6791-3p (MIRT671516)
- hsa-miR-1976 (MIRT671517)
- hsa-miR-3653-5p (MIRT671518)
- hsa-miR-6747-3p (MIRT671519)
- hsa-miR-6727-3p (MIRT671520)
- hsa-miR-4722-3p (MIRT671521)
- hsa-miR-544b (MIRT671522)
- hsa-miR-4324 (MIRT671523)
- hsa-miR-660-3p (MIRT671524)
- hsa-miR-6771-5p (MIRT705611)
- hsa-miR-7160-5p (MIRT705612)
- hsa-miR-4722-5p (MIRT705613)
- hsa-miR-6884-5p (MIRT705614)
- hsa-miR-485-5p (MIRT705615)
- hsa-miR-1827 (MIRT705616)
- hsa-miR-4649-3p (MIRT705617)
- hsa-miR-1282 (MIRT705618)
- hsa-miR-5707 (MIRT705619)
- hsa-miR-6746-5p (MIRT705620)
- hsa-miR-6840-3p (MIRT705621)
- hsa-miR-665 (MIRT705622)
- hsa-miR-4768-3p (MIRT705623)
- hsa-miR-4478 (MIRT705624)
- hsa-miR-4419b (MIRT705625)
- hsa-miR-3929 (MIRT705626)
- hsa-miR-940 (MIRT705627)
- hsa-miR-6893-5p (MIRT705628)
- hsa-miR-6808-5p (MIRT705629)
- hsa-miR-26a-5p (MIRT728331)
- hsa-miR-26b-5p (MIRT728332)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1S3
- Browse OriGene Inhibitory RNA Products For AP1S3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S3
Clone products for research
- Applied Biological Materials (abm): Clones for AP1S3 - Starting at $45 >
- * AP1S3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for AP1S3
- Addgene plasmids for AP1S3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1S3
Cell Lines for research
-
Horizon Cell Lines for AP1S3
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AP1S3 Gene
Localization for AP1S3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AP1S3 Gene
- Golgi apparatus. Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| lysosome | 4 |
| endosome | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| peroxisome | 0 |
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for AP1S3 Gene
| 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 | ||
Pathways by source for AP1S3 Gene
16 Reactome pathways for AP1S3 Gene
2 KEGG pathways for AP1S3 Gene
1 GeneGo (Thomson Reuters) pathway for AP1S3 Gene
- Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1S3 Gene
- CTLA4 Signaling
Interacting Proteins for AP1S3 Gene
Selected Interacting proteins:
Q96PC3-AP1S3_HUMAN
ENSP00000379891
for AP1S3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AP1S3
| 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 | -- |
No data available for SIGNOR curated interactions for AP1S3 Gene
Transcripts for AP1S3 Gene
mRNA/cDNA for AP1S3 Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334271 2201 nts (view in UCSC)
- ENST00000396653 589 nts (view in UCSC)
- ENST00000396654 3986 nts (view in UCSC)
- ENST00000409375 552 nts (view in UCSC)
- ENST00000415298 2515 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AP1S3 - Starting at $85 >
- * AP1S3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AP1S3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1S3
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1S3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1S3
- Browse OriGene Inhibitory RNA Products For AP1S3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S3
Clone products for research
- Applied Biological Materials (abm): Clones for AP1S3 - Starting at $45 >
- * AP1S3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for AP1S3
- Addgene plasmids for AP1S3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1S3
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||
| SP5: | - | - | - |
Relevant External Links for AP1S3 Gene
- GeneLoc Exon Structure for
- AP1S3
Expression for AP1S3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
- Ureteric Bud
- Adipose (Muscoskeletal System)
- Umbilical Cord (Extraembryonic Tissues)
- Epiblast (Early Embryonic Tissues)
This gene is overexpressed in Adipocyte (59.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP1S3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP1S3
SOURCE GeneReport for Unigene cluster for AP1S3 Gene:
Hs.632555mRNA Expression by UniProt/SwissProt for AP1S3 Gene:
Q96PC3-AP1S3_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for AP1S3 Gene
- Nervous system(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1S3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
Regions:
Head and neck:
- brain
- head
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- hair
- skin
- sweat gland
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for AP1S3
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for AP1S3 Gene
Orthologs for AP1S3 Gene
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 |
- Species where no ortholog for AP1S3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for AP1S3 Gene
- ENSEMBL:
- Gene Tree for AP1S3 (if available)
- TreeFam:
- Gene Tree for AP1S3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AP1S3: view image
Paralogs for AP1S3 Gene
(9) SIMAP similar genes for AP1S3 Gene using alignment to 7 proteins:
- AP1S3_HUMAN
- B8ZZZ1_HUMAN
- C9JZK4_HUMAN
- F8W8K9_HUMAN
- G5E966_HUMAN
- Q53R44_HUMAN
- Q53T10_HUMAN
Variants for AP1S3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP1S3 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.59;
44.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AP1S3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1S3 Gene
Disorders for AP1S3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| psoriasis 15, pustular |
|
|
| pustulosis palmaris et plantaris |
|
|
| psoriasis 14, pustular |
|
|
| psoriasis 15 |
|
|
| pustular psoriasis |
|
|
Search AP1S3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AP1S3_HUMAN- Psoriasis 15, pustular (PSORS15) [MIM:616106]: A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. {ECO:0000269 PubMed:24791904}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Additional Disease Information for AP1S3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for AP1S3 Gene
Publications for AP1S3 Gene
- AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. (PMID: 24791904) Setta-Kaffetzi N … Capon F (American journal of human genetics 2014) 3 4 74
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- Adaptins: the final recount. (PMID: 11598180) Boehm M … Bonifacino JS (Molecular biology of the cell 2001) 3 4
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
Products for AP1S3 Gene
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- antibodies-online: Show 13 available AP1S3 Antibodies ranked by validation data
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Sources for AP1S3 Gene
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