• Gene id: 83464

Gene Summary

• Gene Symbol: APH1B   Gene   UCSC   Ensembl
• Aliases: APH-1B, PRO1328, PSFL, TAAV688
• Gene name: aph-1 homolog B, gamma-secretase subunit
• Alternate names: gamma-secretase subunit APH-1B, APH1B gamma secretase subunit, anterior pharynx defective 1 homolog B, aph-1beta,
• Gene location: 15q22.2 (63277549: 63309125)     Exons: 9     NC_000015.10
• Gene summary(Entrez): This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex.
• OMIM: 607630

Protein Summary

• Protein general information: Q8WW43  
  • Name: Gamma secretase subunit APH 1B (APH 1b) (Aph 1beta) (Presenilin stabilization factor like)
  • Length: 257  
  • Mass: 28460
  • Tissue specificity: Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO
• Sequence:

  MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVIIDNKDGPTQKYLLIFG
  AFVSVYIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVSGLGFGIMSGVFSFVNTLSDSLGPGTVGIHG
  DSPQFFLYSAFMTLVIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSAQTFISSYYGINLASAFIILVLMGT
  WAFLAAGGSCRSLKLCLLCQDKNFLLYNQRSR

• Structural information:
  • Interpro: IPR009294  
  • STRING: ENSP00000261879
• Other Databases: GeneCards:  APH1B  Malacards:  APH1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0016485	protein processing	IBA	biological process
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007220	Notch receptor processing	IBA	biological process
GO:0070765	gamma-secretase complex	IBA	cellular component
GO:0016485	protein processing	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016485	protein processing	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007626	locomotory behavior	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Coronary artery disease	PMID:18987747
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray