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APH1A

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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

Summary

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

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 83.38)

Entrez gene

 51107

UniProt

 Q96BI3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96BI3

Antibodypedia

 APH1A antibodies

PROTEIN BROWSER
APH1A-001
APH1A-002
APH1A-008
APH1A-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
APH1A-001
ENSP00000353380
ENST00000360244
Q96BI3 [Direct mapping]
Gamma-secretase subunit APH-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007411 [axon guidance]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0032580 [Golgi cisterna membrane]
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:0048013 [ephrin receptor signaling pathway]
GO:0097190 [apoptotic signaling pathway]
Show all
 247 aa
26.8 kDa 		No 7
APH1A-002
ENSP00000358105
ENST00000369109
Q96BI3 [Direct mapping]
Gamma-secretase subunit APH-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001656 [metanephros development]
GO:0004175 [endopeptidase activity]
GO:0005515 [protein binding]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007411 [axon guidance]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0032580 [Golgi cisterna membrane]
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:0048013 [ephrin receptor signaling pathway]
GO:0097190 [apoptotic signaling pathway]
Show all
 265 aa
29 kDa 		No 7
APH1A-008
ENSP00000236017
ENST00000236017
Q5TB21 [Direct mapping]
Anterior pharynx defective 1 homolog A (C. elegans); Gamma-secretase subunit APH-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0043085 [positive regulation of catalytic activity]
Show all
 150 aa
15.9 kDa 		No 3
APH1A-201
ENSP00000397473
ENST00000414276
Q96BI3 [Direct mapping]
Gamma-secretase subunit APH-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007411 [axon guidance]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0032580 [Golgi cisterna membrane]
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:0048013 [ephrin receptor signaling pathway]
GO:0097190 [apoptotic signaling pathway]
Show all
 195 aa
21 kDa 		No 4

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.