• Gene id: 118788

Gene Summary

• Gene Symbol: PIK3AP1   Gene   UCSC   Ensembl
• Aliases: BCAP
• Gene name: phosphoinositide-3-kinase adaptor protein 1
• Alternate names: phosphoinositide 3-kinase adapter protein 1, B cell adaptor protein, B-cell adapter for phosphoinositide 3-kinase, B-cell phosphoinositide 3-kinase adapter protein 1,
• Gene location: 10q24.1 (96720513: 96593311)     Exons: 19     NC_000010.11
• OMIM: 607942

Protein Summary

• Protein general information: Q6ZUJ8  
  • Name: Phosphoinositide 3 kinase adapter protein 1 (B cell adapter for phosphoinositide 3 kinase) (B cell phosphoinositide 3 kinase adapter protein 1)
  • Length: 805  
  • Mass: 90398
  • Tissue specificity: Expressed in natural killer (NK) cells. {ECO
• Sequence:

  MAASGVPRGCDILIVYSPDAEEWCQYLQTLFLSSRQVRSQKILTHRLGPEASFSAEDLSLFLSTRCVVVLLSAEL
  VQHFHKPALLPLLQRAFHPPHRVVRLLCGVRDSEEFLDFFPDWAHWQELTCDDEPETYVAAVKKAISEDSGCDSV
  TDTEPEDEKVVSYSKQQNLPTVTSPGNLMVVQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPEDSPSVRMEAK
  VENEYTISVKAPNLSSGNVSLKIYSGDLVVCETVISYYTDMEEIGNLLSNAANPVEFMCQAFKIVPYNTETLDKL
  LTESLKNNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTCPGALQAYSVANKHGHYP
  NTIAEKHGFRDLRQFIDEYVETVDMLKSHIKEELMHGEEADAVYESMAHLSTDLLMKCSLNPGCDEDLYESMAAF
  VPAATEDLYVEMLQASTSNPIPGDGFSRATKDSMIRKFLEGNSMGMTNLERDQCHLGQEEDVYHTVDDDEAFSVD
  LASRPPVPVPRPETTAPGAHQLPDNEPYIFKVFAEKSQERPGNFYVSSESIRKGPPVRPWRDRPQSSIYDPFAGM
  KTPGQRQLITLQEQVKLGIVNVDEAVLHFKEWQLNQKKRSESFRFQQENLKRLRDSITRRQREKQKSGKQTDLEI
  TVPIRHSQHLPAKVEFGVYESGPRKSVIPPRTELRRGDWKTDSTSSTASSTSNRSSTRSLLSVSSGMEGDNEDNE
  VPEVTRSRSPGPPQVDGTPTMSLERPPRVPPRAASQRPPTRETFHPPPPVPPRGR

• Structural information:
  • Protein Domains: (8..14-)
    (/note="TIR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00204-)
    (181..31-)
    (/note="DBB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00707"-)
  • Interpro: IPR017893  IPR041340  IPR035897  
  • Prosite: PS51376 PS50104
  • PDB: 5FOR
  • PDBsum: 5FOR
  • STRING: ENSP00000339826
• Other Databases: GeneCards:  PIK3AP1  Malacards:  PIK3AP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IBA	molecular function
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	ISS	molecular function
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0034162	toll-like receptor 9 signaling pathway	ISS	biological process
GO:0034154	toll-like receptor 7 signaling pathway	ISS	biological process
GO:0034142	toll-like receptor 4 signaling pathway	ISS	biological process
GO:0034134	toll-like receptor 2 signaling pathway	ISS	biological process
GO:0016020	membrane	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IEA	molecular function
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0034162	toll-like receptor 9 signaling pathway	IEA	biological process
GO:0034154	toll-like receptor 7 signaling pathway	IEA	biological process
GO:0034142	toll-like receptor 4 signaling pathway	IEA	biological process
GO:0034134	toll-like receptor 2 signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04662	B cell receptor signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq