Homo sapiens Gene: APH1A | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-102071.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | APH1A | ||||||||||||||||||||||
Gene Name | anterior pharynx defective 1 homolog A (C. elegans) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000117362 | ||||||||||||||||||||||
Encoded Proteins |
anterior pharynx defective 1 homolog A (C. elegans)
anterior pharynx defective 1 homolog A (C. elegans)
anterior pharynx defective 1 homolog A (C. elegans)
anterior pharynx defective 1 homolog A (C. elegans)
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 1:150265399-150269580 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q21.2 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH |
Notch pathway
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REACTOME |
Regulated proteolysis of p75NTR pathway
NRIF signals cell death from the nucleus pathway
Nuclear signaling by ERBB4 pathway
Signaling by ERBB4 pathway
Activated NOTCH1 Transmits Signal to the Nucleus pathway
Signaling by NOTCH4 pathway
Signaling by NOTCH3 pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Developmental Biology pathway
Signalling by NGF pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
Axon guidance pathway
p75 NTR receptor-mediated signalling pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
EPH-ephrin mediated repulsion of cells pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
EPH-Ephrin signaling pathway
Disease pathway
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KEGG |
Notch signaling pathway pathway
Alzheimer's disease pathway
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INOH | |||||||||||||||||||||||
PID NCI |
Presenilin action in Notch and Wnt signaling
p75(NTR)-mediated signaling
Syndecan-3-mediated signaling events
Notch signaling pathway
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Cross-References | |||||||||||||||||||||||
SwissProt | Q96BI3 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 51107 | ||||||||||||||||||||||
UniGene | Hs.108408 Hs.735911 | ||||||||||||||||||||||
RefSeq | NM_001243772 NM_001077628 NM_001243771 NM_016022 | ||||||||||||||||||||||
HUGO | HGNC:29509 | ||||||||||||||||||||||
OMIM | 607629 | ||||||||||||||||||||||
CCDS | CCDS58025 CCDS41390 CCDS41391 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF151835 AF508787 AK027879 AK075295 AK298832 AL138795 AY113698 AY113699 AY358951 BC001230 BC008732 BC009501 BC015568 BC017699 BC020590 CH471121 | ||||||||||||||||||||||
GenPept | AAD34072 AAH01230 AAH08732 AAH09501 AAH15568 AAH17699 AAH20590 AAM61955 AAM61956 AAN63816 AAQ89310 BAC11529 BAG51389 BAG60962 CAI22811 CAI22812 EAW53565 EAW53566 EAW53567 | ||||||||||||||||||||||
RNA Seq Atlas | 51107 | ||||||||||||||||||||||