• Gene id: 11154

Gene Summary

• Gene Symbol: AP4S1   Gene   UCSC   Ensembl
• Aliases: AP47B, CLA20, CLAPS4, CPSQ6, SPG52
• Gene name: adaptor related protein complex 4 subunit sigma 1
• Alternate names: AP-4 complex subunit sigma-1, AP-4 adapter complex subunit sigma-1, AP-4 adaptor complex subunit sigma-1, adaptor related protein complex 4 sigma 1 subunit, clathrin-associated/assembly/adaptor protein, sigma 4, sigma-4-adaptin,
• Gene location: 14q12 (31025105: 31096449)     Exons: 11     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle form
• OMIM: 0

Protein Summary

• Protein general information: Q9Y587  
  • Name: AP 4 complex subunit sigma 1 (AP 4 adaptor complex subunit sigma 1) (Adaptor related protein complex 4 subunit sigma 1) (Sigma 1 subunit of AP 4) (Sigma 4 adaptin) (Sigma4 adaptin)
  • Length: 144  
  • Mass: 17005
  • Tissue specificity: Widely expressed.
• Sequence:

  MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYRQYAALFIVVGVNDTE
  NEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLNGCIVETNRARILAPLLILDKMSES

• Structural information:
  • Interpro: IPR016635  IPR022775  IPR011012  
  • STRING: ENSP00000216366
• Other Databases: GeneCards:  AP4S1  Malacards:  AP4S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006605	protein targeting	IC	biological process
GO:0008104	protein localization	IC	biological process
GO:0030124	AP-4 adaptor complex	IDA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray