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

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

Homo sapiens

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

Gene ID: 51107 | Gene type: protein coding

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

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

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