Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1176
Gene name	Adaptor related protein complex 3 subunit sigma 1
Gene symbol	AP3S1
Synonyms (NCBI Gene)	CLAPS3Sigma3A
Chromosome	5
Chromosome location	5q22.3-q23.1
Summary	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 transcri

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028680	hsa-miR-30a-5p	Proteomics	18668040
MIRT040959	hsa-miR-18a-3p	CLASH	23622248
MIRT038700	hsa-miR-30c-2-3p	CLASH	23622248
MIRT037232	hsa-miR-877-5p	CLASH	23622248
MIRT788138	hsa-miR-101	CLIP-seq
MIRT788139	hsa-miR-1183	CLIP-seq
MIRT788140	hsa-miR-1252	CLIP-seq
MIRT788141	hsa-miR-1284	CLIP-seq
MIRT788142	hsa-miR-1303	CLIP-seq
MIRT788143	hsa-miR-141	CLIP-seq
MIRT788144	hsa-miR-144	CLIP-seq
MIRT788145	hsa-miR-145	CLIP-seq
MIRT788146	hsa-miR-200a	CLIP-seq
MIRT788147	hsa-miR-208a	CLIP-seq
MIRT788148	hsa-miR-208b	CLIP-seq
MIRT788149	hsa-miR-217	CLIP-seq
MIRT788150	hsa-miR-298	CLIP-seq
MIRT788151	hsa-miR-30a	CLIP-seq
MIRT788152	hsa-miR-30b	CLIP-seq
MIRT788153	hsa-miR-30c	CLIP-seq
MIRT788154	hsa-miR-30d	CLIP-seq
MIRT788155	hsa-miR-30e	CLIP-seq
MIRT788156	hsa-miR-3123	CLIP-seq
MIRT788157	hsa-miR-3198	CLIP-seq
MIRT788158	hsa-miR-3200-3p	CLIP-seq
MIRT788159	hsa-miR-3200-5p	CLIP-seq
MIRT788160	hsa-miR-323b-3p	CLIP-seq
MIRT788161	hsa-miR-335	CLIP-seq
MIRT788162	hsa-miR-3591-3p	CLIP-seq
MIRT788163	hsa-miR-3613-5p	CLIP-seq
MIRT788164	hsa-miR-376c	CLIP-seq
MIRT788165	hsa-miR-3925-5p	CLIP-seq
MIRT788166	hsa-miR-409-3p	CLIP-seq
MIRT788167	hsa-miR-4279	CLIP-seq
MIRT788168	hsa-miR-4307	CLIP-seq
MIRT788169	hsa-miR-4309	CLIP-seq
MIRT788170	hsa-miR-432	CLIP-seq
MIRT788171	hsa-miR-4325	CLIP-seq
MIRT788172	hsa-miR-4432	CLIP-seq
MIRT788173	hsa-miR-4477b	CLIP-seq
MIRT788174	hsa-miR-4504	CLIP-seq
MIRT788175	hsa-miR-4653-3p	CLIP-seq
MIRT788176	hsa-miR-4662a-5p	CLIP-seq
MIRT788177	hsa-miR-4724-3p	CLIP-seq
MIRT788178	hsa-miR-4766-5p	CLIP-seq
MIRT788179	hsa-miR-4793-3p	CLIP-seq
MIRT788180	hsa-miR-494	CLIP-seq
MIRT788181	hsa-miR-499-5p	CLIP-seq
MIRT788182	hsa-miR-515-5p	CLIP-seq
MIRT788183	hsa-miR-539	CLIP-seq
MIRT788184	hsa-miR-541	CLIP-seq
MIRT788185	hsa-miR-542-3p	CLIP-seq
MIRT788186	hsa-miR-548p	CLIP-seq
MIRT788187	hsa-miR-605	CLIP-seq
MIRT788188	hsa-miR-640	CLIP-seq
MIRT788189	hsa-miR-654-5p	CLIP-seq
MIRT788190	hsa-miR-659	CLIP-seq
MIRT788191	hsa-miR-892a	CLIP-seq
MIRT788192	hsa-miR-935	CLIP-seq
MIRT788138	hsa-miR-101	CLIP-seq
MIRT788141	hsa-miR-1284	CLIP-seq
MIRT788144	hsa-miR-144	CLIP-seq
MIRT1932444	hsa-miR-3941	CLIP-seq
MIRT1932445	hsa-miR-466	CLIP-seq
MIRT1932446	hsa-miR-4672	CLIP-seq
MIRT1932447	hsa-miR-4731-3p	CLIP-seq
MIRT1932448	hsa-miR-4801	CLIP-seq
MIRT788138	hsa-miR-101	CLIP-seq
MIRT788139	hsa-miR-1183	CLIP-seq
MIRT788141	hsa-miR-1284	CLIP-seq
MIRT788143	hsa-miR-141	CLIP-seq
MIRT788144	hsa-miR-144	CLIP-seq
MIRT788146	hsa-miR-200a	CLIP-seq
MIRT788147	hsa-miR-208a	CLIP-seq
MIRT788148	hsa-miR-208b	CLIP-seq
MIRT788149	hsa-miR-217	CLIP-seq
MIRT788151	hsa-miR-30a	CLIP-seq
MIRT788152	hsa-miR-30b	CLIP-seq
MIRT788153	hsa-miR-30c	CLIP-seq
MIRT788154	hsa-miR-30d	CLIP-seq
MIRT788155	hsa-miR-30e	CLIP-seq
MIRT788158	hsa-miR-3200-3p	CLIP-seq
MIRT788160	hsa-miR-323b-3p	CLIP-seq
MIRT788164	hsa-miR-376c	CLIP-seq
MIRT1932444	hsa-miR-3941	CLIP-seq
MIRT788167	hsa-miR-4279	CLIP-seq
MIRT788172	hsa-miR-4432	CLIP-seq
MIRT1932445	hsa-miR-466	CLIP-seq
MIRT788176	hsa-miR-4662a-5p	CLIP-seq
MIRT1932446	hsa-miR-4672	CLIP-seq
MIRT1932447	hsa-miR-4731-3p	CLIP-seq
MIRT1932448	hsa-miR-4801	CLIP-seq
MIRT788180	hsa-miR-494	CLIP-seq
MIRT788181	hsa-miR-499-5p	CLIP-seq
MIRT788184	hsa-miR-541	CLIP-seq
MIRT788189	hsa-miR-654-5p	CLIP-seq
MIRT788139	hsa-miR-1183	CLIP-seq
MIRT788143	hsa-miR-141	CLIP-seq
MIRT788146	hsa-miR-200a	CLIP-seq
MIRT788160	hsa-miR-323b-3p	CLIP-seq
MIRT788164	hsa-miR-376c	CLIP-seq
MIRT788176	hsa-miR-4662a-5p	CLIP-seq
MIRT788139	hsa-miR-1183	CLIP-seq
MIRT2475919	hsa-miR-1236	CLIP-seq
MIRT2475920	hsa-miR-1290	CLIP-seq
MIRT788143	hsa-miR-141	CLIP-seq
MIRT788146	hsa-miR-200a	CLIP-seq
MIRT2475921	hsa-miR-3167	CLIP-seq
MIRT2475922	hsa-miR-3192	CLIP-seq
MIRT788160	hsa-miR-323b-3p	CLIP-seq
MIRT2475923	hsa-miR-331-3p	CLIP-seq
MIRT2475924	hsa-miR-3677-5p	CLIP-seq
MIRT2475925	hsa-miR-3679-3p	CLIP-seq
MIRT788164	hsa-miR-376c	CLIP-seq
MIRT2475926	hsa-miR-4308	CLIP-seq
MIRT2475927	hsa-miR-4522	CLIP-seq
MIRT788176	hsa-miR-4662a-5p	CLIP-seq
MIRT788180	hsa-miR-494	CLIP-seq
MIRT788184	hsa-miR-541	CLIP-seq
MIRT2475928	hsa-miR-619	CLIP-seq
MIRT788189	hsa-miR-654-5p	CLIP-seq
MIRT2475929	hsa-miR-876-5p	CLIP-seq
MIRT2475919	hsa-miR-1236	CLIP-seq
MIRT2475920	hsa-miR-1290	CLIP-seq
MIRT2475921	hsa-miR-3167	CLIP-seq
MIRT2475922	hsa-miR-3192	CLIP-seq
MIRT2475923	hsa-miR-331-3p	CLIP-seq
MIRT2475924	hsa-miR-3677-5p	CLIP-seq
MIRT2475925	hsa-miR-3679-3p	CLIP-seq
MIRT2475926	hsa-miR-4308	CLIP-seq
MIRT2475927	hsa-miR-4522	CLIP-seq
MIRT2475928	hsa-miR-619	CLIP-seq
MIRT2475929	hsa-miR-876-5p	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16162817
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006896	Process	Golgi to vacuole transport	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0008286	Process	Insulin receptor signaling pathway	TAS	9792713
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016183	Process	Synaptic vesicle coating	NAS	15537701
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	23247405
GO:0030117	Component	Membrane coat	IEA
GO:0030119	Component	AP-type membrane coat adaptor complex	TAS	8697810
GO:0030123	Component	AP-3 adaptor complex	IDA	9118953
GO:0030123	Component	AP-3 adaptor complex	IEA
GO:0030123	Component	AP-3 adaptor complex	NAS	9151686
GO:0030133	Component	Transport vesicle	TAS	9118953
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035654	Process	Clathrin-coated vesicle cargo loading, AP-3-mediated	NAS	9545220
GO:0036465	Process	Synaptic vesicle recycling	NAS	15537701
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:0098793	Component	Presynapse	IEA
GO:1903232	Process	Melanosome assembly	NAS	23247405
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
601507	2013	ENSG00000177879

Q92572

Protein name

AP-3 complex subunit sigma-1 (AP-3 complex subunit sigma-3A) (Adaptor-related protein complex 3 subunit sigma-1) (Clathrin-associated/assembly/adaptor protein, small 3) (Sigma-3A-adaptin) (Sigma3A-adaptin) (Sigma-adaptin 3a)

Protein 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

PDB

9C58 , 9C59 , 9C5B , 9C5C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 148	Clathrin adaptor complex small chain	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in all adult tissues examined. {ECO:0000269|PubMed:8697810, ECO:0000269|PubMed:9118953, ECO:0000269|PubMed:9151686}.

Sequence

MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSD
NKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHVDKVHNIL
AEMVMGGMVLETNMNEIVTQIDAQNKLEKSEAGLAGAPARAVSAVKNMNLPEIPRNINIG
DISIKVPNLPSFK

Sequence length

193

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Golgi Associated Vesicle Biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36524130	★★★★★ ★☆☆☆☆ Found in Text Mining only

AP3S1 (adaptor related protein complex 3 subunit sigma 1)