InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: APH1A

Summary

InnateDB Protein

IDBP-102075.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APH1A

Protein Name

anterior pharynx defective 1 homolog A (C. elegans)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000353380

InnateDB Gene

IDBG-102071 (APH1A)

Protein Structure

UniProt Annotation

Function

Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. {ECO:0000269PubMed:12297508, ECO:0000269PubMed:12522139, ECO:0000269PubMed:12763021}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.

Disease Associations

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:0000269PubMed:12110170}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	28 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006509	membrane protein ectodomain proteolysis
GO:0007219	Notch signaling pathway
GO:0007220	Notch receptor processing
GO:0016485	protein processing
GO:0031293	membrane protein intracellular domain proteolysis
GO:0042987	amyloid precursor protein catabolic process
GO:0043065	positive regulation of apoptotic process
GO:0043085	positive regulation of catalytic activity
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032580	Golgi cisterna membrane