• Gene id: 51107

Gene Summary

• Gene Symbol: APH1A   Gene   UCSC   Ensembl
• Aliases: 6530402N02Rik, APH-1, APH-1A, CGI-78
• Gene name: aph-1 homolog A, gamma-secretase subunit
• Alternate names: gamma-secretase subunit APH-1A, APH1A gamma secretase subunit, anterior pharynx defective 1 homolog A, aph-1alpha, presenilin-stabilization factor,
• Gene location: 1q21.2 (25180353: 25134691)     Exons: 11     NC_000007.14
• Gene summary(Entrez): This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx def
• OMIM: 607629

Protein Summary

• Protein general information: Q96BI3  
  • Name: Gamma secretase subunit APH 1A (APH 1a) (Aph 1alpha) (Presenilin stabilization factor)
  • Length: 265  
  • Mass: 28996
  • Tissue specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level. {ECO
• Sequence:

  MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLASVVWFILVHVTDRSDARLQYGLLIFG
  AAVSVLLQEVFRFAYYKLLKKADEGLASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIH
  GDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMG
  LWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED

• Structural information:
  • Interpro: IPR009294  
  • PDB: 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • PDBsum: 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • DIP: 44671
  • STRING: ENSP00000358105
• Other Databases: GeneCards:  APH1A  Malacards:  APH1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0007220	Notch receptor processing	TAS	biological process
GO:0043085	positive regulation of catalytic activity	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042987	amyloid precursor protein catabolic process	TAS	biological process
GO:0070765	gamma-secretase complex	IBA	cellular component
GO:0007220	Notch receptor processing	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0016485	protein processing	IBA	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
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:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0007220	Notch receptor processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0001656	metanephros development	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0007220	Notch receptor processing	IMP	biological process
GO:0042987	amyloid precursor protein catabolic process	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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
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)