APH1A

GENE INFORMATION

? »

Gene name

APH1A (HGNC Symbol)

Synonyms

APH-1A, CGI-78

Description

APH1A gamma secretase subunit (HGNC Symbol)

Entrez gene summary

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 defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]

Chromosome

1 (Chromosome progress)

Cytoband

q21.2

Chromosome location (bp)

150237804 - 150241980

Ensembl

ENSG00000117362 (version 73.37)

Entrez gene

51107

UniProt

Q96BI3 (UniProt - Evidence at protein level)

neXtProt

NX_Q96BI3

Antibodypedia

APH1A antibodies
 

PROTEIN VIEW

? »
 
 
 
APH1A-001
 
APH1A-002
 
APH1A-008
 
APH1A-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

APH1A-001 ENSP00000353380
ENST00000360244
Q96BI3
Show all »
Show » Show » 247 26.8 No 7
APH1A-002 ENSP00000358105
ENST00000369109
Q96BI3
Show all »
Show » Show » 265 29 No 7
APH1A-008 ENSP00000236017
ENST00000236017
Q5TB21
Show all »
Show » Show » 150 15.9 No 3
APH1A-201 ENSP00000397473
ENST00000414276
Q96BI3
Show all »
Show » Show » 195 21 No 4