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Aliases for AP3S1 Gene

Aliases for AP3S1 Gene

  • Adaptor-Related Protein Complex 3, Sigma 1 Subunit 2 3
  • CLAPS3 3 4 6
  • Adaptor-Related Protein Complex 3 Subunit Sigma-1 3 4
  • AP-3 Complex Subunit Sigma-3A 3 4
  • Sigma-Adaptin 3a 3 4
  • Sigma-3A-Adaptin 3 4
  • Sigma3A-Adaptin 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 3 (22kD) 3
  • Clathrin-Associated/Assembly/Adapter Protein, Small 3 3
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 3 4
  • Adapter-Related Protein Complex 3 Sigma-1 Subunit 3
  • Adapter-Related Protein Complex 3 Subunit Sigma-1 3
  • AP-3 Complex Sigma-3A Subunit 3
  • AP-3 Complex Subunit Sigma-1 3
  • Sigma3A 3

External Ids for AP3S1 Gene

Previous HGNC Symbols for AP3S1 Gene

  • CLAPS3

Previous GeneCards Identifiers for AP3S1 Gene

  • GC05P114945
  • GC05P115585
  • GC05P115208
  • GC05P115253
  • GC05P115205
  • GC05P115177
  • GC05P110358

Summaries for AP3S1 Gene

GeneCards Summary for AP3S1 Gene

AP3S1 (Adaptor-Related Protein Complex 3, Sigma 1 Subunit) is a Protein Coding gene. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP3S2.

UniProtKB/Swiss-Prot for AP3S1 Gene

  • Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Wiki entry for AP3S1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3S1 Gene

Genomics for AP3S1 Gene

Genomic Location for AP3S1 Gene

Start:
115,841,481 bp from pter
End:
115,914,081 bp from pter
Size:
72,601 bases
Orientation:
Plus strand

Genomic View for AP3S1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP3S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3S1 Gene

Proteins for AP3S1 Gene

  • Protein details for AP3S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92572-AP3S1_HUMAN
    Recommended name:
    AP-3 complex subunit sigma-1
    Protein Accession:
    Q92572
    Secondary Accessions:
    • O00647
    • O00676
    • O00721
    • O00727
    • Q53XL4
    • Q6ICQ2

    Protein attributes for AP3S1 Gene

    Size:
    193 amino acids
    Molecular mass:
    21732 Da
    Quaternary structure:
    • Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity).

neXtProt entry for AP3S1 Gene

Proteomics data for AP3S1 Gene at MOPED

Post-translational modifications for AP3S1 Gene

  • Ubiquitination at Lys18 and Lys166
  • Modification sites at PhosphoSitePlus

Other Protein References for AP3S1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AP3S1 Gene

Domains for AP3S1 Gene

Suggested Antigen Peptide Sequences for AP3S1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92572

UniProtKB/Swiss-Prot:

AP3S1_HUMAN :
  • Q92572
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with AP3S1: view

No data available for Gene Families for AP3S1 Gene

Function for AP3S1 Gene

Molecular function for AP3S1 Gene

UniProtKB/Swiss-Prot Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Ontology (GO) - Molecular Function for AP3S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 9118953
GO:0005515 protein binding IPI 16162817
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP3S1: view

Phenotypes for AP3S1 Gene

GenomeRNAi human phenotypes for AP3S1:
genes like me logo Genes that share phenotypes with AP3S1: view

miRNA for AP3S1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AP3S1 Gene

Localization for AP3S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3S1 Gene

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP3S1 Gene COMPARTMENTS Subcellular localization image for AP3S1 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AP3S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0030117 membrane coat --
GO:0030119 AP-type membrane coat adaptor complex TAS 8697810
GO:0030123 AP-3 adaptor complex IDA 9118953
GO:0030133 transport vesicle TAS 9118953
genes like me logo Genes that share ontologies with AP3S1: view

Pathways for AP3S1 Gene

genes like me logo Genes that share pathways with AP3S1: view

Pathways by source for AP3S1 Gene

Gene Ontology (GO) - Biological Process for AP3S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axon cargo transport ISS --
GO:0008286 insulin receptor signaling pathway TAS 9792713
GO:0015031 protein transport --
genes like me logo Genes that share ontologies with AP3S1: view

Transcripts for AP3S1 Gene

Unigene Clusters for AP3S1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for AP3S1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3: -
SP4: - -

Relevant External Links for AP3S1 Gene

GeneLoc Exon Structure for
AP3S1
ECgene alternative splicing isoforms for
AP3S1

Expression for AP3S1 Gene

mRNA expression in normal human tissues for AP3S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3S1 Gene

SOURCE GeneReport for Unigene cluster for AP3S1 Gene Hs.406191

mRNA Expression by UniProt/SwissProt for AP3S1 Gene

Q92572-AP3S1_HUMAN
Tissue specificity: Present in all adult tissues examined.
genes like me logo Genes that share expressions with AP3S1: view

No data available for mRNA differential expression in normal tissues for AP3S1 Gene

Orthologs for AP3S1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AP3S1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP3S1 35
  • 100 (n)
  • 100 (a)
AP3S1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP3S1 35
  • 97.06 (n)
  • 100 (a)
AP3S1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3S1 35
  • 97.58 (n)
  • 100 (a)
AP3S1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3s1 35
  • 95.16 (n)
  • 100 (a)
Ap3s1 16
Ap3s1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP3S1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3S1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3s1 35
  • 95.18 (n)
  • 99.34 (a)
chicken
(Gallus gallus)
Aves AP3S1 35
  • 88.77 (n)
  • 98.96 (a)
AP3S1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3S1 36
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ap3s1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6278 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4379 35
zebrafish
(Danio rerio)
Actinopterygii Dr.1366 35
fruit fly
(Drosophila melanogaster)
Insecta or 37
  • 78 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL143W 35
  • 50.91 (n)
  • 46.06 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS3 35
  • 55.56 (n)
  • 50 (a)
APS3 36
  • 38 (a)
OneToMany
APS3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15268g 35
  • 52.76 (n)
  • 47.24 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09461 35
  • 55.03 (n)
  • 50.34 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes aps3 35
  • 61.9 (n)
  • 62.59 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2985 35
Species with no ortholog for AP3S1:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for AP3S1 Gene

ENSEMBL:
Gene Tree for AP3S1 (if available)
TreeFam:
Gene Tree for AP3S1 (if available)

Paralogs for AP3S1 Gene

Paralogs for AP3S1 Gene

Selected SIMAP similar genes for AP3S1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for AP3S1 Gene

genes like me logo Genes that share paralogs with AP3S1: view

Variants for AP3S1 Gene

Sequence variations from dbSNP and Humsavar for AP3S1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs26529 -- 115,848,753(-) TATAC(A/G)ACAAG intron-variant
rs40323 -- 115,843,933(-) CCACC(A/T)GAGCT intron-variant
rs152367 -- 115,853,803(+) CAGCT(A/G)CCACC intron-variant
rs152368 -- 115,852,963(+) catat(A/G)ttctc intron-variant
rs152369 -- 115,852,570(+) ttaga(A/T)cattt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP3S1 Gene

Variant ID Type Subtype PubMed ID
esv2730625 CNV Deletion 23290073
nsv515611 CNV Gain+Loss 19592680
esv2896 CNV Deletion 18987735
esv8099 CNV Loss 19470904
esv2730626 CNV Deletion 23290073

Relevant External Links for AP3S1 Gene

HapMap Linkage Disequilibrium report
AP3S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3S1 Gene

Disorders for AP3S1 Gene

(1) University of Copenhagen DISEASES for AP3S1 Gene

Relevant External Links for AP3S1

Genetic Association Database (GAD)
AP3S1
Human Genome Epidemiology (HuGE) Navigator
AP3S1
genes like me logo Genes that share disorders with AP3S1: view

No data available for UniProtKB/Swiss-Prot for AP3S1 Gene

Publications for AP3S1 Gene

  1. AP-3: an adaptor-like protein complex with ubiquitous expression. (PMID: 9118953) Dell'Angelica E.C. … Bonifacino J.S. (EMBO J. 1997) 2 3 4 23
  2. Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of CLAPS3, a gene encoding a novel clathrin-adaptor small chain. (PMID: 8697810) Watanabe T.K. … Hirai Y. (Cytogenet. Cell Genet. 1996) 2 3 4
  3. Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F. … Robinson M.S. (J. Cell Biol. 1997) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for AP3S1 Gene

Sources for AP3S1 Gene

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