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Aliases for AP1S3 Gene

Aliases for AP1S3 Gene

  • Adaptor Related Protein Complex 1 Sigma 3 Subunit 2 3 5
  • Clathrin Assembly Protein Complex 1 Sigma-1C Small Chain 3 4
  • Adaptor-Related Protein Complex 1 Subunit Sigma-1C 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1C Subunit 3 4
  • Sigma 1C Subunit Of AP-1 Clathrin 3 4
  • Adaptor-Related Protein Complex 1, Sigma 3 Subunit 2
  • Adapter-Related Protein Complex 1 Subunit Sigma-1C 3
  • Adaptor-Related Protein Complex 1 Sigma 3 Subunit 2
  • Adaptor Protein Complex AP-1 Sigma-1C Subunit 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1C 4
  • AP-1 Complex Subunit Sigma-3 3
  • Sigma-Adaptin 1C 4
  • Sigma1C-Adaptin 4
  • PSORS15 3

External Ids for AP1S3 Gene

Previous GeneCards Identifiers for AP1S3 Gene

  • GC02M222638
  • GC02M223342
  • GC02M224580
  • GC02M224824
  • GC02M224447
  • GC02M224325
  • GC02M216442
  • GC02M224616

Summaries for AP1S3 Gene

Entrez Gene Summary 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 Sigma 3 Subunit) is a Protein Coding gene. Diseases associated with AP1S3 include Psoriasis 15, Pustular and Pustulosis Palmaris Et Plantaris. Among its related pathways are HIV Life Cycle and MHC class II antigen presentation. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S2.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1S3 Gene

Genomics for AP1S3 Gene

Regulatory Elements for AP1S3 Gene

Enhancers for AP1S3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H223796 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.5 +38.4 38396 6 PKNOX1 ZSCAN4 RAD21 SLC30A9 ZNF143 ATF7 ETV6 RUNX3 IKZF2 MIXL1 AP1S3 WDFY1 MRPL44 PIR50030
GH02H223813 1.5 Ensembl ENCODE dbSUPER 18.5 +22.2 22223 5 PKNOX1 FEZF1 ZNF2 FOS TSHZ1 ZNF610 GLIS1 WT1 PRDM4 SP7 AP1S3 MRPL44 WDFY1 PIR50030
GH02H223941 2 FANTOM5 Ensembl ENCODE dbSUPER 8.5 -105.7 -105708 4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 AP1S3 MRPL44 WDFY1 GC02P223865
GH02H223928 1.5 Ensembl ENCODE dbSUPER 10.4 -92.2 -92248 2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 ATF7 ZHX2 MXD4 MRPL44 AP1S3 WDFY1 GC02P223865
GH02H223860 1.2 Ensembl ENCODE 12.2 -23.3 -23343 2 FOXA2 MLX ARID4B SIN3A RAD21 SLC30A9 ZNF143 SMARCC2 RCOR1 CREM MRPL44 AP1S3 GC02P223865
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP1S3 on UCSC Golden Path with GeneCards custom track

Promoters for AP1S3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000130991 427 1601 HDGF PKNOX1 ZFP64 SIN3A DMAP1 ZNF121 ZNF143 SP3 ZC3H11A ZNF623

Genomic Location for AP1S3 Gene

Chromosome:
2
Start:
223,751,686 bp from pter
End:
223,838,027 bp from pter
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:
AP1S3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP1S3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for AP1S3 Gene

    Alternative splice isoforms for AP1S3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1S3 Gene

Post-translational modifications for AP1S3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP1S3 Gene

Domains & Families for AP1S3 Gene

Gene Families for AP1S3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AP1S3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PC3

UniProtKB/Swiss-Prot:

AP1S3_HUMAN :
  • Belongs to the adaptor complexes small subunit family.
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with AP1S3: view

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).

Gene Ontology (GO) - Molecular Function for AP1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP1S3: view
genes like me logo Genes that share phenotypes with AP1S3: view

Animal Model Products

CRISPR Products

miRNA for AP1S3 Gene

miRTarBase miRNAs that target AP1S3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AP1S3
  • Applied Biological Materials Clones for AP1S3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP1S3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AP1S3 Gene

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 --
genes like me logo Genes that share ontologies with AP1S3: view

Pathways & Interactions for AP1S3 Gene

genes like me logo Genes that share pathways with AP1S3: view

Pathways by source for AP1S3 Gene

1 GeneGo (Thomson Reuters) pathway for AP1S3 Gene
1 Qiagen pathway for AP1S3 Gene

Gene Ontology (GO) - Biological Process for AP1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IMP 24791904
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with AP1S3: view

No data available for SIGNOR curated interactions for AP1S3 Gene

Drugs & Compounds for AP1S3 Gene

No Compound Related Data Available

Transcripts for AP1S3 Gene

Unigene Clusters for AP1S3 Gene

Adaptor-related protein complex 1, sigma 3 subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AP1S3
  • Applied Biological Materials Clones for AP1S3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AP1S3 Gene

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
ECgene alternative splicing isoforms for
AP1S3

Expression for AP1S3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP1S3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AP1S3 Gene

This gene is overexpressed in Adipocyte (59.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP1S3 Gene



NURSA nuclear receptor signaling pathways regulating expression of AP1S3 Gene:

AP1S3

SOURCE GeneReport for Unigene cluster for AP1S3 Gene:

Hs.632555

mRNA 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(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1S3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Organs:
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
genes like me logo Genes that share expression patterns with AP1S3: view

Primer Products

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.

Orthologs for AP1S3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP1S3 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia AP1S3 33 34
  • 93.51 (n)
dog
(Canis familiaris)
Mammalia AP1S3 33 34
  • 90.91 (n)
mouse
(Mus musculus)
Mammalia Ap1s3 33 16 34
  • 90.48 (n)
rat
(Rattus norvegicus)
Mammalia Ap1s3 33
  • 90.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP1S3 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP1S3 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP1S3 34 33
  • 81.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP1S3 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s3 33
  • 73.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16505 33
zebrafish
(Danio rerio)
Actinopterygii AP1S3 (2 of 2) 34
  • 71 (a)
OneToMany
ap1s3b 33 34
  • 70.78 (n)
Dr.1084 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12446 33
fruit fly
(Drosophila melanogaster)
Insecta AP-1sigma 34
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aps-1 34
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 34
  • 45 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os03g0811300 33
  • 59.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 34
  • 61 (a)
OneToMany
Species where no ortholog for AP1S3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for AP1S3 Gene

Paralogs for AP1S3 Gene

genes like me logo Genes that share paralogs with AP1S3: view

Variants for AP1S3 Gene

Sequence variations from dbSNP and Humsavar for AP1S3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs116107386 other, Psoriasis 15, pustular (PSORS15) [MIM:616106] 223,777,862(+) ATATG(A/C)AATGT nc-transcript-variant, reference, missense
rs138292988 other, Psoriasis 15, pustular (PSORS15) [MIM:616106] 223,777,776(+) TTCCC(A/G)GGTGA nc-transcript-variant, reference, missense
rs1000052665 -- 223,813,464(+) GAGGA(C/T)AACAA intron-variant
rs1000087664 -- 223,839,598(+) TCTGC(C/G/T)GGGGG upstream-variant-2KB
rs1000103773 -- 223,776,332(+) AATTG(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP1S3 Gene

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

Variation tolerance for AP1S3 Gene

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)

Relevant External Links for AP1S3 Gene

Human Gene Mutation Database (HGMD)
AP1S3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1S3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1S3 Gene

Disorders for AP1S3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AP1S3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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 variations affecting the gene represented in this entry.

Relevant External Links for AP1S3

Genetic Association Database (GAD)
AP1S3
Human Genome Epidemiology (HuGE) Navigator
AP1S3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP1S3
genes like me logo Genes that share disorders with AP1S3: view

No data available for Genatlas for AP1S3 Gene

Publications for AP1S3 Gene

  1. 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 60
  2. 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 45 60
  3. 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 60
  4. Adaptins: the final recount. (PMID: 11598180) Boehm M … Bonifacino JS (Molecular biology of the cell 2001) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for AP1S3 Gene

  • Addgene plasmids for AP1S3

Sources for AP1S3 Gene

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