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Aliases for AP3S1 Gene

Aliases for AP3S1 Gene

  • Adaptor Related Protein Complex 3 Sigma 1 Subunit 2 3 5
  • Adaptor-Related Protein Complex 3 Subunit Sigma-1 3 4
  • Sigma-Adaptin 3a 3 4
  • CLAPS3 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
  • Adaptor-Related Protein Complex 3, Sigma 1 Subunit 2
  • Adapter-Related Protein Complex 3 Subunit Sigma-1 3
  • Clathrin Adaptor Complex AP3, Sigma-3A Subunit 3
  • AP-3 Complex Subunit Sigma-3A 4
  • AP-3 Complex Subunit Sigma-1 3
  • Sigma-3A-Adaptin 4
  • Sigma3A-Adaptin 4
  • 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

Entrez Gene Summary for AP3S1 Gene

  • This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for AP3S1 Gene

AP3S1 (Adaptor Related Protein Complex 3 Sigma 1 Subunit) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3S1 Gene

Genomics for AP3S1 Gene

Regulatory Elements for AP3S1 Gene

Enhancers for AP3S1 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
GH05G116076 1.2 FANTOM5 Ensembl ENCODE 10.5 +235.2 235238 0.6 SRF MTA2 BACH1 JUNB DPF2 TBX21 ARID3A EGR1 EED IKZF1 LVRN ATG12 AP3S1 TMED7 COMMD10 ENSG00000272265 ENSG00000271918 RPS25P6
GH05G115856 1.1 Ensembl ENCODE 9.7 +15.9 15861 2.1 PKNOX1 FOXA2 ARNT NFIB ZNF133 FEZF1 ZNF2 GATA2 ZNF366 ZSCAN5C ENSG00000271918 PGGT1B AP3S1 CDO1 ATG12 GC05M115886
GH05G115990 0.6 dbSUPER 15.3 +151.0 150996 4.1 ATF1 PKNOX1 RNF2 MNT CBX8 EGR1 PBX2 POU5F1 CREM MYC LVRN AP3S1 ATG12 RNU2-49P ENSG00000251118 DDX43P1 ARL14EPL
GH05G115884 0.7 ENCODE 10.6 +43.9 43892 1.5 NFIA MAX ZNF644 RAD21 NR2F2 YY1 JUND NCOR1 HNF4G ZBTB33 ATG12 AP3S1 LVRN TMED7 TMED7-TICAM2 CDO1 ENSG00000251118 RNU2-49P GC05M115886
GH05G115869 0.6 FANTOM5 11.9 +28.0 28027 0.4 ZNF146 GATA2 CEBPB FEZF1 ZXDB AP3S1 ATG12 LVRN FEM1C GC05M115886
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP3S1 on UCSC Golden Path with GeneCards custom track

Promoters for AP3S1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000185587 419 3001 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21

Genomic Location for AP3S1 Gene

Chromosome:
5
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

Genes around AP3S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AP3S1 Gene

  • Ubiquitination at posLast=1818 and Lys166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP3S1 Gene

Domains & Families 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 :
  • 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 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
genes like me logo Genes that share phenotypes with AP3S1: view

Animal Models for AP3S1 Gene

MGI Knock Outs for AP3S1:

Animal Model Products

CRISPR Products

miRNA for AP3S1 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
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 AP3S1 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AP3S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030119 AP-type membrane coat adaptor complex TAS 8697810
GO:0030123 AP-3 adaptor complex IDA 9118953
genes like me logo Genes that share ontologies with AP3S1: view

Pathways & Interactions 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 IEA --
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport IEA,ISS --
GO:0008286 insulin receptor signaling pathway TAS 9792713
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AP3S1: view

No data available for SIGNOR curated interactions for AP3S1 Gene

Drugs & Compounds for AP3S1 Gene

No Compound Related Data Available

Transcripts for AP3S1 Gene

Unigene Clusters for AP3S1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AP3S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP3S1 Gene



Protein tissue co-expression partners for AP3S1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP3S1 Gene:

AP3S1

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.

Evidence on tissue expression from TISSUES for AP3S1 Gene

  • Nervous system(4.8)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with AP3S1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP3S1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3S1 34 35
  • 97.58 (n)
cow
(Bos Taurus)
Mammalia AP3S1 34 35
  • 97.06 (n)
rat
(Rattus norvegicus)
Mammalia Ap3s1 34
  • 95.18 (n)
mouse
(Mus musculus)
Mammalia Ap3s1 34 16 35
  • 95.16 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3S1 35
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3S1 34 35
  • 88.77 (n)
lizard
(Anolis carolinensis)
Reptilia AP3S1 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6278 34
African clawed frog
(Xenopus laevis)
Amphibia ap3s1-prov 34
zebrafish
(Danio rerio)
Actinopterygii Dr.1366 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4379 34
fruit fly
(Drosophila melanogaster)
Insecta or 36
  • 78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS3 34 35 37
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15268g 34
  • 52.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL143W 34
  • 50.91 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes aps3 34
  • 61.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09461 34
  • 55.03 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2985 34
Species where no ortholog for AP3S1 was found in the sources mined by GeneCards:
  • 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

(8) SIMAP similar genes for AP3S1 Gene using alignment to 2 proteins:

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
rs1000030127 -- 115,866,522(+) CTTCT(A/G)TAAGG intron-variant
rs1000057273 -- 115,872,494(+) GCAGT(C/G)AGGAA intron-variant
rs1000062075 -- 115,855,994(+) TTTTT(A/T)AAGTT intron-variant
rs1000079128 -- 115,904,194(+) CTTTA(-/TTTTTATAATTATTAGTG)TTAAG intron-variant
rs1000092187 -- 115,869,487(+) TTTTT(C/T)CTCTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv10028n54 CNV gain 21841781
dgv5789n100 CNV gain 25217958
esv2730625 CNV deletion 23290073
esv2730626 CNV deletion 23290073
esv2763487 CNV gain 21179565
esv2896 CNV loss 18987735
esv3566507 CNV deletion 23714750
esv8099 CNV loss 19470904
nsv1112427 CNV deletion 24896259
nsv1151517 CNV deletion 26484159
nsv515611 CNV gain+loss 19592680
nsv955736 CNV deletion 24416366
nsv980717 CNV duplication 23825009

Variation tolerance for AP3S1 Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP3S1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP3S1

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

Disorders for AP3S1 Gene

Relevant External Links for AP3S1

Genetic Association Database (GAD)
AP3S1
Human Genome Epidemiology (HuGE) Navigator
AP3S1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3S1

No disorders were found for AP3S1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 64
  3. 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 46 64
  4. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. (PMID: 20512086) Zhou J.B. … Xin Z. (Med. Sci. Monit. 2010) 3 46 64
  5. 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 64

Products for AP3S1 Gene

Sources for AP3S1 Gene

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