• Gene id: 1176

Gene Summary

• Gene Symbol: AP3S1   Gene   UCSC   Ensembl
• Aliases: CLAPS3, Sigma3A
• Gene name: adaptor related protein complex 3 subunit sigma 1
• Alternate names: AP-3 complex subunit sigma-1, adapter-related protein complex 3 subunit sigma-1, adaptor related protein complex 3 sigma 1 subunit, clathrin adaptor complex AP3, sigma-3A subunit, clathrin-associated/assembly/adapter protein, small 3, clathrin-associated/assem,
• Gene location: 5q22.3-q23.1 (23850707: 23690098)     Exons: 20     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 601507

Protein Summary

• Protein general information: Q92572  
  • 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)
  • Length: 193  
  • Mass: 21732
  • Tissue specificity: Present in all adult tissues examined. {ECO
• Sequence:

  MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVF
  CVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHVDKVHNILAEMVMGGMVLETNMNEIVTQIDAQNKLEKS
  EAGLAGAPARAVSAVKNMNLPEIPRNINIGDISIKVPNLPSFK

• Structural information:
  • Interpro: IPR016635  IPR022775  IPR000804  IPR011012  
  • Prosite: PS00989
  • STRING: ENSP00000325369
• Other Databases: GeneCards:  AP3S1  Malacards:  AP3S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030119	AP-type membrane coat adaptor complex	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0030123	AP-3 adaptor complex	IDA	cellular component
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)