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
  • Adapter-Related Protein Complex 1 Subunit Sigma-1C 3
  • Adaptor Protein Complex AP-1 Sigma-1C Subunit 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1C 4
  • Sigma-Adaptin 1C 4
  • Sigma1C-Adaptin 4
  • PSORS15 3
  • AP1S3 5

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 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.

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).

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J223835 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.9 859 3.1 SP1 HNRNPL ZNF512 CTCF POLR2A BACH1 LARP7 PRDM1 ZNF143 RELA AP1S3 RF00017-3436 MRPL44 ENSG00000286239 SCG2
GH02J223839 Enhancer 0.2 Ensembl 600.7 -1.7 -1674 0.2 AP1S3 lnc-MRPL44-3 ENSG00000286239
GH02J223796 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 29.5 +38.6 38595 7.3 CTCF ATF7 PRDM10 ZNF692 ZSCAN4 REST RAD21 RCOR1 PKNOX1 ARID3A AP1S3 WDFY1 MRPL44 piR-38344-081 piR-50444-270 ENSG00000286239 SCG2
GH02J223813 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.5 +21.0 21027 8.4 CREB1 ATF7 PRDM10 ZNF629 KDM1A PRDM1 ZSCAN4 PATZ1 ZNF501 ZNF239 piR-50444-270 AP1S3 WDFY1 MRPL44 piR-38344-081 ENSG00000286239 SCG2
GH02J223942 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.6 -106.5 -106475 3.4 SP1 GATAD2A PRDM10 TFE3 NFKBIZ POLR2A ZNF692 BACH1 TARDBP JUND WDFY1 ENSG00000286239 ANKRD49P1 AP1S3 MRPL44 RF00994-559
- 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

Genomic Locations for AP1S3 Gene
chr2:223,751,686-223,838,027
(GRCh38/hg38)
Size:
86,342 bases
Orientation:
Minus strand
chr2:224,616,403-224,702,744
(GRCh37/hg19)
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).
    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

    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

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

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).

Phenotypes From GWAS Catalog for AP1S3 Gene

Gene Ontology (GO) - Molecular Function for AP1S3 Gene

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

Human Phenotype Ontology for AP1S3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AP1S3 Gene

miRTarBase miRNAs that target AP1S3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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
endosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

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
  • Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1S3 Gene
  • CTLA4 Signaling

Gene Ontology (GO) - Biological Process for AP1S3 Gene

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 --
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

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S3

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

Expression for AP1S3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, 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.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(4.3)
  • Skin(2)

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
genes like me logo Genes that share expression patterns with AP1S3: view

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 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AP1S3 30 31
  • 93.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AP1S3 30 31
  • 90.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ap1s3 30 17 31
  • 90.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ap1s3 30
  • 90.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AP1S3 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AP1S3 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AP1S3 30 31
  • 81.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AP1S3 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ap1s3 30
  • 73.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16505 30
Zebrafish
(Danio rerio)
Actinopterygii AP1S3 (2 of 2) 31
  • 71 (a)
OneToMany
ap1s3b 30 31
  • 70.78 (n)
OneToMany
Dr.1084 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12446 30
Fruit Fly
(Drosophila melanogaster)
Insecta AP-1sigma 31
  • 69 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea aps-1 31
  • 64 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 31
  • 45 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os03g0811300 30
  • 59.18 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3488 31
  • 61 (a)
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

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

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 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

Additional dbSNP identifiers (rs#s) for AP1S3 Gene

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)

Additional Variant Information for AP1S3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP1S3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for AP1S3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
psoriasis 15, pustular
  • psoriasis 15, pustular, susceptibility to
pustulosis palmaris et plantaris
  • ppp
psoriasis 14, pustular
  • psors14
psoriasis 15
  • psors15
pustular psoriasis
- 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.

Additional Disease Information for AP1S3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  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
  4. Adaptins: the final recount. (PMID: 11598180) Boehm M … Bonifacino JS (Molecular biology of the cell 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for AP1S3 Gene

Sources for AP1S3 Gene