APH1A - aph-1 homolog A, gamma-secretase subunit Gene

Also Known as APH-1; APH-1A; CGI-78; 6530402N02Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51107

About APH1A

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,265,404-150,269,016 (from NCBI)

This gene has 9 transcripts (splice variants), 137 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 47.4), colon (RPKM 37.4) and 25 other tissues.

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]

APH1A Products (4)

mRNA Protein Name
NM_001077628.3 NP_001071096.1 gamma-secretase subunit APH-1A isoform 1
NM_001243771.2 NP_001230700.1 gamma-secretase subunit APH-1A isoform 3
NM_001243772.2 NP_001230701.1 gamma-secretase subunit APH-1A isoform 4
NM_016022.4 NP_057106.2 gamma-secretase subunit APH-1A isoform 2

APH1A Protein Structure

Aph-1

Aph-1: Aph-1 protein (3 - 245)

  • 0
  • 100
  • 200
  • 265 a.a.
Protein Preferred Names Protein Names

gamma-secretase subunit APH-1A

  • APH1A gamma secretase subunit

APH1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
APH1A Q96BI3 SLC38A7 Homo sapiens Q9NVC3
Validated Y2H
32296183
Intra
APH1A Q96BI3 SERP1 Homo sapiens Q9Y6X1
Validated Y2H
32296183
Intra
APH1A Q96BI3 SLC39A9 Homo sapiens Q9NUM3
Validated Y2H
32296183
Intra
APH1A Q96BI3 TMEM140 Homo sapiens Q9NV12
Validated Y2H
32296183
Intra
APH1A Q96BI3 PSEN1 Homo sapiens P49768
3D-EM
26280335
Intra
APH1A Q96BI3 FIS1 Homo sapiens Q9Y3D6
Validated Y2H
32296183
Intra
APH1A Q96BI3 FYN Homo sapiens P06241
Validated Y2H
32814053
Intra
APH1A Q96BI3 FYN Homo sapiens P06241
Y2H Array
32814053
Intra
APH1A Q96BI3 FYN Homo sapiens P06241
Y2H Pooling
32814053
Intra
APH1A Q96BI3 FXYD6 Homo sapiens Q9H0Q3
Validated Y2H
32296183
Intra
APH1A Q96BI3 MRAP2 Homo sapiens Q96G30
Validated Y2H
32296183
Intra
APH1A Q96BI3 CYTH1 Homo sapiens Q15438
Y2H Pooling
32814053
Intra
APH1A Q96BI3 CYTH1 Homo sapiens Q15438
Validated Y2H
32814053
Intra
APH1A Q96BI3 CYTH1 Homo sapiens Q15438
Y2H Array
32814053
Intra
APH1A Q96BI3 NCSTN Homo sapiens Q92542
Anti Tag CoIP
19376115
Intra
APH1A Q96BI3 NCSTN Homo sapiens Q92542
3D-EM
26280335
Intra
APH1A Q96BI3 NCSTN Homo sapiens Q92542
Anti Bait CoIP
18201567
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Parkinson Disease, Late-Onset

  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease
Alzheimer Disease, Familial, 1

  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-156012 PSEN1-IN-2 Inhibitor / Unkown
HY-RS00817 APH1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-156011 PSEN1-IN-1 Inhibitor / Unkown
HY-RS21481 Aph1a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27999 Aph1a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta APH1A VGNC VGNC:69924
Mus musculus APH1A MGD MGI:2385110
Rattus norvegicus APH1A RGD RGD:1311546
Felis catus APH1A VGNC VGNC:59849
Bos taurus APH1A VGNC VGNC:26013
Canis familiaris APH1A VGNC VGNC:37984
Others APH1A NCBI