• Gene id: 9892

Gene Summary

• Gene Symbol: SNAP91   Gene   UCSC   Ensembl
• Aliases: AP180, CALM
• Gene name: synaptosome associated protein 91
• Alternate names: clathrin coat assembly protein AP180, 91 kDa synaptosomal-associated protein, assembly protein, 180kDa, clathrin coat-associated protein AP180, phosphoprotein F1-20, synaptosomal-associated protein, 91kDa homolog, synaptosome associated protein 91kDa,
• Gene location: 6q14.2 (83709407: 83552884)     Exons: 44     NC_000006.12
• OMIM: 607923

Protein Summary

• Protein general information: O60641  
  • Name: Clathrin coat assembly protein AP180 (91 kDa synaptosomal associated protein) (Clathrin coat associated protein AP180) (Phosphoprotein F1 20)
  • Length: 907  
  • Mass: 92502
• Sequence:

  MSGQTLTDRIAAAQYSVTGSAVARAVCKATTHEVMGPKKKHLDYLIQATNETNVNIPQMADTLFERATNSSWVVV
  FKALVTTHHLMVHGNERFIQYLASRNTLFNLSNFLDKSGSHGYDMSTFIRRYSRYLNEKAFSYRQMAFDFARVKK
  GADGVMRTMAPEKLLKSMPILQGQIDALLEFDVHPNELTNGVINAAFMLLFKDLIKLFACYNDGVINLLEKFFEM
  KKGQCKDALEIYKRFLTRMTRVSEFLKVAEQVGIDKGDIPDLTQAPSSLMETLEQHLNTLEGKKPGNNEGSGAPS
  PLSKSSPATTVTSPNSTPAKTIDTSPPVDLFATASAAVPVSTSKPSSDLLDLQPDFSSGGAAAAAAPAPPPPAGG
  ATAWGDLLGEDSLAALSSVPSEAQISDPFAPEPTPPTTTAEIATASASASTTTTVTAVTAEVDLFGDAFAASPGE
  APAASEGAAAPATPTPVAAALDACSGNDPFAPSEGSAEAAPELDLFAMKPPETSVPVVTPTASTAPPVPATAPSP
  APAVAAAAAATTAATAAATTTTTTSAATATTAPPALDIFGDLFESTPEVAAAPKPDAAPSIDLFSTDAFSSPPQG
  ASPVPESSLTADLLSVDAFAAPSPATTASPAKVDSSGVIDLFGDAFGSSASEPQPASQAASSSSASADLLAGFGG
  SFMAPSPSPVTPAQNNLLQPNFEAAFGTTPSTSSSSSFDPSVFDGLGDLLMPTMAPAGQPAPVSMVPPSPAMAAS
  KALGSDLDSSLASLVGNLGISGTTTKKGDLQWNAGEKKLTGGANWQPKVAPATWSAGVPPSAPLQGAVPPTSSVP
  PVAGAPSVGQPGAGFGMPPAGTGMPMMPQQPVMFAQPMMRPPFGAAAVPGTQLSPSPTPASQSPKKPPAKDPLAD
  LNIKDFL

• Structural information:
  • Protein Domains: (14..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243"-)
  • Interpro: IPR011417  IPR014712  IPR013809  IPR008942  
  • Prosite: PS50942
  • STRING: ENSP00000400459
• Other Databases: GeneCards:  SNAP91  Malacards:  SNAP91

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019901	protein kinase binding	ISS	molecular function
GO:0000149	SNARE binding	IBA	molecular function
GO:0005545	1-phosphatidylinositol binding	IBA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0006900	vesicle budding from membrane	IBA	biological process
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0032050	clathrin heavy chain binding	IBA	molecular function
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0098894	extrinsic component of presynaptic endocytic zone membrane	IBA	cellular component
GO:0005905	clathrin-coated pit	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0016185	synaptic vesicle budding from presynaptic endocytic zone membrane	IBA	biological process
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0005543	phospholipid binding	IEA	molecular function
GO:0005545	1-phosphatidylinositol binding	IEA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0048268	clathrin coat assembly	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:2000369	regulation of clathrin-dependent endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Alzheimer's disease	PMID:20847448
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)