• Gene id: 1174

Gene Summary

• Gene Symbol: AP1S1   Gene   UCSC   Ensembl
• Aliases: AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
• Gene name: adaptor related protein complex 1 subunit sigma 1
• Alternate names: AP-1 complex subunit sigma-1A, HA1 19 kDa subunit, adapter-related protein complex 1 sigma-1A subunit, adaptor protein complex AP-1 subunit sigma-1A, adaptor related protein complex 1 sigma 1 subunit, adaptor-related protein complex 1 subunit sigma-1A, clathrin,
• Gene location: 7q22.1 (50968039: 50988120)     Exons: 4     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adapti
• OMIM: 603531

Protein Summary

• Protein general information: P61966  
  • Name: AP 1 complex subunit sigma 1A (Adaptor protein complex AP 1 subunit sigma 1A) (Adaptor related protein complex 1 subunit sigma 1A) (Clathrin assembly protein complex 1 sigma 1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adap
  • Length: 158  
  • Mass: 18733
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQD
  NELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRS
  VLEEMGLA

• Structural information:
  • Interpro: IPR016635  IPR022775  IPR000804  IPR011012  
  • Prosite: PS00989
  • PDB: 4P6Z
  • PDBsum: 4P6Z
  • STRING: ENSP00000336666
• Other Databases: GeneCards:  AP1S1  Malacards:  AP1S1

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: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:0005905	clathrin-coated pit	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0030121	AP-1 adaptor complex	TAS	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0009615	response to virus	IEP	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa04142	Lysosome

Diseases

Associated diseases	References
MEDNIK syndrome	KEGG:H02220
MEDNIK syndrome	KEGG:H02220
MEDNIK syndrome	PMID:19057675
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881