AP3S1
gene geneOn this page
Summary
AP3S1 (adaptor related protein complex 3 subunit sigma 1, HGNC:2013) is a protein-coding gene on chromosome 5q22.3-q23.1, encoding AP-3 complex subunit sigma-1 (Q92572). Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated.
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.
Source: NCBI Gene 1176 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 34 total — 8 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_001284
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2013 |
| Approved symbol | AP3S1 |
| Name | adaptor related protein complex 3 subunit sigma 1 |
| Location | 5q22.3-q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000177879 |
| Ensembl biotype | protein_coding |
| OMIM | 601507 |
| Entrez | 1176 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000316788, ENST00000395548, ENST00000505423, ENST00000506430, ENST00000507436, ENST00000509055, ENST00000514118, ENST00000515066, ENST00000905986, ENST00000905987, ENST00000905988, ENST00000905989, ENST00000905990, ENST00000922028, ENST00000953387
RefSeq mRNA: 9 — MANE Select: NM_001284
NM_001002924, NM_001284, NM_001318090, NM_001318091, NM_001318093, NM_001318094, NM_001364119, NM_001364120, NM_001364122
CCDS: CCDS4123, CCDS83021
Canonical transcript exons
ENST00000316788 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001275832 | 115913362 | 115914081 |
| ENSE00001547769 | 115841935 | 115842106 |
| ENSE00003556356 | 115870017 | 115870128 |
| ENSE00003574347 | 115866670 | 115866761 |
| ENSE00003602988 | 115902885 | 115902992 |
| ENSE00003658442 | 115895087 | 115895158 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7020 / max 376.7165, expressed in 1814 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58049 | 34.7020 | 1814 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.65 | gold quality |
| cortical plate | UBERON:0005343 | 98.36 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.24 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.14 | gold quality |
| amygdala | UBERON:0001876 | 98.03 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.02 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.00 | gold quality |
| ascending aorta | UBERON:0001496 | 97.98 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.98 | gold quality |
| right coronary artery | UBERON:0001625 | 97.97 | gold quality |
| popliteal artery | UBERON:0002250 | 97.93 | gold quality |
| tibial artery | UBERON:0007610 | 97.93 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.89 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.89 | gold quality |
| temporal lobe | UBERON:0001871 | 97.86 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.85 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.79 | gold quality |
| body of pancreas | UBERON:0001150 | 97.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.64 | gold quality |
| frontal cortex | UBERON:0001870 | 97.56 | gold quality |
| putamen | UBERON:0001874 | 97.53 | gold quality |
| hypothalamus | UBERON:0001898 | 97.52 | gold quality |
| bone marrow | UBERON:0002371 | 97.49 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.48 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.45 | gold quality |
| endometrium | UBERON:0001295 | 97.40 | gold quality |
| brain | UBERON:0000955 | 97.39 | gold quality |
| substantia nigra | UBERON:0002038 | 97.39 | gold quality |
| left coronary artery | UBERON:0001626 | 97.36 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 51.60 |
| E-MTAB-9801 | yes | 6.57 |
| E-CURD-112 | no | 2.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 diabetes in the Chinese Northern Han population (PMID:20512086)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ap3s1 | ENSMUSG00000024480 |
| rattus_norvegicus | ENSRNOG00000062839 | |
| drosophila_melanogaster | or | FBGN0003008 |
| caenorhabditis_elegans | aps-3 | WBGENE00000165 |
Paralogs (6): AP2S1 (ENSG00000042753), AP4S1 (ENSG00000100478), AP1S1 (ENSG00000106367), AP1S3 (ENSG00000152056), AP3S2 (ENSG00000157823), AP1S2 (ENSG00000182287)
Protein
Protein identifiers
AP-3 complex subunit sigma-1 — Q92572 (reviewed: Q92572)
Alternative names: AP-3 complex subunit sigma-3A, Adaptor-related protein complex 3 subunit sigma-1, Clathrin-associated/assembly/adaptor protein, small 3, Sigma-3A-adaptin, Sigma-adaptin 3a
All UniProt accessions (2): Q92572, F5H459
UniProt curated annotations — full annotation on UniProt →
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.
Subunit / interactions. 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.
Subcellular location. Golgi apparatus. Cytoplasmic vesicle membrane.
Tissue specificity. Present in all adult tissues examined.
Similarity. Belongs to the adaptor complexes small subunit family.
RefSeq proteins (9): NP_001002924, NP_001275, NP_001305019, NP_001305020, NP_001305022, NP_001305023, NP_001351048, NP_001351049, NP_001351051 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000804 | Clathrin_sm-chain_CS | Conserved_site |
| IPR011012 | Longin-like_dom_sf | Homologous_superfamily |
| IPR016635 | AP_complex_ssu | Family |
| IPR022775 | AP_mu_sigma_su | Domain |
| IPR027155 | APS3 | Family |
Pfam: PF01217
UniProt features (3 total): chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9C5C | ELECTRON MICROSCOPY | 3.6 |
| 9C59 | ELECTRON MICROSCOPY | 4.3 |
| 9C5B | ELECTRON MICROSCOPY | 4.5 |
| 9C58 | ELECTRON MICROSCOPY | 4.7 |
| 9RTW | ELECTRON MICROSCOPY | 7.4 |
| 9RTX | ELECTRON MICROSCOPY | 8.5 |
| 9RTY | ELECTRON MICROSCOPY | 8.9 |
| 9RTZ | ELECTRON MICROSCOPY | 13 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92572-F1 | 85.63 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 191
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| R-HSA-5653656 | Vesicle-mediated transport |
MSigDB gene sets: 358 (showing top):
MORF_MTA1, RNGTGGGC_UNKNOWN, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, MORF_HDAC1, MORF_RAD21, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, HSIAO_HOUSEKEEPING_GENES, GOBP_CELLULAR_PIGMENTATION, GOBP_VACUOLAR_TRANSPORT
GO Biological Process (12): intracellular protein transport (GO:0006886), Golgi to vacuole transport (GO:0006896), anterograde axonal transport (GO:0008089), insulin receptor signaling pathway (GO:0008286), synaptic vesicle coating (GO:0016183), vesicle-mediated transport (GO:0016192), clathrin-coated vesicle cargo loading, AP-3-mediated (GO:0035654), synaptic vesicle recycling (GO:0036465), anterograde synaptic vesicle transport (GO:0048490), platelet dense granule organization (GO:0060155), melanosome assembly (GO:1903232), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (11): early endosome (GO:0005769), Golgi apparatus (GO:0005794), AP-type membrane coat adaptor complex (GO:0030119), AP-3 adaptor complex (GO:0030123), transport vesicle (GO:0030133), cytoplasmic vesicle membrane (GO:0030659), presynapse (GO:0098793), axon cytoplasm (GO:1904115), membrane (GO:0016020), membrane coat (GO:0030117), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| trans-Golgi Network Vesicle Budding | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 3 |
| cytoplasm | 3 |
| intracellular protein localization | 2 |
| endomembrane system | 2 |
| membrane protein complex | 2 |
| cytoplasmic vesicle | 2 |
| cellular anatomical structure | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vacuolar transport | 1 |
| intercellular transport | 1 |
| axonal transport | 1 |
| axon cytoplasm | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to insulin stimulus | 1 |
| vesicle coat assembly | 1 |
| synaptic vesicle budding from presynaptic endocytic zone membrane | 1 |
| cellular process | 1 |
| clathrin-coated vesicle cargo loading | 1 |
| establishment of localization in cell | 1 |
| synaptic vesicle cycle | 1 |
| anterograde axonal transport | 1 |
| synaptic vesicle transport along microtubule | 1 |
| secretory granule organization | 1 |
| melanosome organization | 1 |
| organelle assembly | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| endosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane coat | 1 |
| AP-type membrane coat adaptor complex | 1 |
| vesicle membrane | 1 |
| synapse | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
| coated membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
954 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AP3S1 | AP3D1 | O14617 | 960 |
| AP3S1 | AP3M1 | Q9Y2T2 | 937 |
| AP3S1 | AP3B1 | O00203 | 895 |
| AP3S1 | AP1M1 | Q9BXS5 | 694 |
| AP3S1 | BHLHE23 | Q8NDY6 | 682 |
| AP3S1 | AP1G1 | O43747 | 681 |
| AP3S1 | AP3M2 | P53677 | 657 |
| AP3S1 | AP2A1 | O95782 | 579 |
| AP3S1 | AP2M1 | P20172 | 554 |
| AP3S1 | CDKN2A | P42771 | 513 |
| AP3S1 | SLC30A3 | Q99726 | 503 |
| AP3S1 | COPB1 | P53618 | 500 |
| AP3S1 | AP1M2 | Q9Y6Q5 | 492 |
| AP3S1 | RNF13 | O43567 | 480 |
| AP3S1 | CLTA | P09496 | 472 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EEF1G | EEF1B2 | psi-mi:“MI:0914”(association) | 0.890 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KLK5 | DENND11 | psi-mi:“MI:0914”(association) | 0.640 |
| VSIG1 | TTI1 | psi-mi:“MI:0914”(association) | 0.640 |
| AP3M1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| VSIG4 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| AP3S1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| IGSF6 | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| SIDT2 | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR55 | NPM1 | psi-mi:“MI:0914”(association) | 0.480 |
| AP3D1 | psi-mi:“MI:0914”(association) | 0.460 | |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| CLPTM1 | AP3S1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DENR | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (193): AP3S1 (Reconstituted Complex), AP3S1 (Affinity Capture-Western), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), AP3S1 (Co-fractionation), AP3S1 (Co-fractionation), CDC73 (Co-fractionation), AP3S1 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS)
ESM2 similar proteins: A4FV08, A4IHW6, A5PJI5, G3V9T7, O43681, O54984, O94973, P16298, P17427, P18484, P20651, P48452, P48453, P63328, P63329, Q08209, Q08211, Q0IIZ2, Q0P5E2, Q0VCK5, Q17QL1, Q28141, Q2KJ61, Q2YDH6, Q2YDM2, Q3MHC2, Q503E1, Q5HZM6, Q5NVE6, Q5R5S4, Q5R874, Q5RIC0, Q5TA45, Q5ZHS1, Q5ZIH0, Q6GNQ1, Q6IQE5, Q6NVL5, Q6R518, Q7RTP6
Diamond homologs: B0G185, O23685, O50016, O82201, P35181, P47064, P53680, P56377, P59780, P61966, P61967, P62743, P62744, Q00381, Q09905, Q17QC5, Q1JQ98, Q1JQA3, Q2YDH6, Q3ZBB6, Q3ZBS3, Q4ICG5, Q4WS49, Q54H39, Q54NZ4, Q54WW3, Q553S2, Q5BFF8, Q5R940, Q5RDP9, Q75F71, Q7SAQ1, Q7TN05, Q84WL9, Q8BSZ2, Q8LEZ8, Q8VZ37, Q92572, Q96PC3, Q9DB50
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AP3S1 | “form complex” | “AP-3 complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 1 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 144331 | GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1 | Pathogenic |
| 145546 | GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1 | Pathogenic |
| 152168 | GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1 | Pathogenic |
| 1527186 | GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660) | Pathogenic |
| 152734 | GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 | Pathogenic |
| 155259 | GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1 | Pathogenic |
| 3062848 | GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 | Pathogenic |
| 395290 | GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1 | Pathogenic |
| 545308 | Single allele | Likely pathogenic |
SpliceAI
1536 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:115842107:G:GG | donor_gain | 1.0000 |
| 5:115866757:GGATT:G | donor_gain | 1.0000 |
| 5:115866758:GATT:G | donor_gain | 1.0000 |
| 5:115866758:GATTG:G | donor_gain | 1.0000 |
| 5:115866762:G:GG | donor_gain | 1.0000 |
| 5:115870012:TTTAG:T | acceptor_loss | 1.0000 |
| 5:115870013:TTAG:T | acceptor_loss | 1.0000 |
| 5:115870014:TA:T | acceptor_loss | 1.0000 |
| 5:115870015:A:AG | acceptor_gain | 1.0000 |
| 5:115870015:A:C | acceptor_loss | 1.0000 |
| 5:115870016:G:GA | acceptor_gain | 1.0000 |
| 5:115870016:GATTA:G | acceptor_gain | 1.0000 |
| 5:115870127:AAGTA:A | donor_loss | 1.0000 |
| 5:115870128:AGT:A | donor_loss | 1.0000 |
| 5:115870129:G:GG | donor_gain | 1.0000 |
| 5:115870129:GT:G | donor_loss | 1.0000 |
| 5:115870130:TAAG:T | donor_loss | 1.0000 |
| 5:115866669:GA:G | acceptor_gain | 0.9900 |
| 5:115870016:GA:G | acceptor_gain | 0.9900 |
| 5:115870016:GAT:G | acceptor_gain | 0.9900 |
| 5:115870016:GATT:G | acceptor_gain | 0.9900 |
| 5:115870124:TTCAA:T | donor_gain | 0.9900 |
| 5:115870126:CAA:C | donor_gain | 0.9900 |
| 5:115870127:AA:A | donor_gain | 0.9900 |
| 5:115870131:AA:A | donor_loss | 0.9900 |
| 5:115895081:CCATA:C | acceptor_loss | 0.9900 |
| 5:115895082:CATA:C | acceptor_loss | 0.9900 |
| 5:115895084:TA:T | acceptor_loss | 0.9900 |
| 5:115895085:A:AC | acceptor_loss | 0.9900 |
| 5:115895086:G:GC | acceptor_loss | 0.9900 |
AlphaMissense
1286 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:115842047:G:C | A4P | 1.000 |
| 5:115842054:T:C | L6P | 1.000 |
| 5:115842064:C:A | N9K | 1.000 |
| 5:115842064:C:G | N9K | 1.000 |
| 5:115842071:G:A | G12R | 1.000 |
| 5:115842071:G:C | G12R | 1.000 |
| 5:115842071:G:T | G12W | 1.000 |
| 5:115842072:G:A | G12E | 1.000 |
| 5:115842072:G:T | G12V | 1.000 |
| 5:115842080:C:G | R15G | 1.000 |
| 5:115842080:C:T | R15W | 1.000 |
| 5:115842081:G:A | R15Q | 1.000 |
| 5:115842081:G:C | R15P | 1.000 |
| 5:115842084:T:C | L16P | 1.000 |
| 5:115842092:T:C | F19L | 1.000 |
| 5:115842094:C:A | F19L | 1.000 |
| 5:115842094:C:G | F19L | 1.000 |
| 5:115866706:T:C | F36L | 1.000 |
| 5:115866708:C:A | F36L | 1.000 |
| 5:115866708:C:G | F36L | 1.000 |
| 5:115866716:T:A | V39E | 1.000 |
| 5:115866725:G:C | R42T | 1.000 |
| 5:115866725:G:T | R42I | 1.000 |
| 5:115866726:A:C | R42S | 1.000 |
| 5:115866726:A:T | R42S | 1.000 |
| 5:115866739:T:C | C47R | 1.000 |
| 5:115866740:G:A | C47Y | 1.000 |
| 5:115866741:T:G | C47W | 1.000 |
| 5:115866745:T:C | F49L | 1.000 |
| 5:115866746:T:C | F49S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000030127 (5:115866522 G>A,T), RS1000057273 (5:115872494 G>C), RS1000062075 (5:115855994 A>T), RS1000079128 (5:115904193 ATTTTTATAATTATTAGTG>A), RS1000092187 (5:115869487 T>C), RS1000124812 (5:115869670 T>A), RS1000182981 (5:115897627 T>C), RS1000188075 (5:115897177 C>A), RS1000203497 (5:115900548 T>A), RS1000287096 (5:115864496 A>C), RS1000319993 (5:115861600 A>C,T), RS1000384709 (5:115859082 C>T), RS1000420048 (5:115906717 T>C), RS1000512145 (5:115850154 A>G), RS1000539064 (5:115901919 A>G)
Disease associations
OMIM: gene MIM:601507 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066428 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.61 | Kd | 2466 | nM | CHEMBL5653589 |
| 5.61 | ED50 | 2466 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147871: Binding affinity to human AP3S1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.4664 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, decreases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Ethanol | increases abundance, affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650913 | Binding | Binding affinity to human AP3S1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.