APH1A

GENERAL INFORMATION

? »

Gene name

APH1A

Gene description

APH1A gamma secretase subunit

Protein class

Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB037272
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Lung

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q21.2

Chromosome location (bp)

150265399 - 150269580

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117362 (version 78.38)

Entrez gene

51107

UniProt

Q96BI3 (UniProt - Evidence at protein level)

neXtProt

NX_Q96BI3

Antibodypedia

APH1A antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000236017
 
ENST00000360244
 
ENST00000369109
 
ENST00000414276
 
 
 
 


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