Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Endoplasmic reticulum membrane Multi-pass membrane protein Golgi apparatus, Golgi stack membrane Multi-pass membrane protein Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. |
Domain |
PF06105 Aph-1 protein |
Function |
Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). |
Biological Process |
GO:0001655 urogenital system development GO:0001656 metanephros development GO:0001822 kidney development GO:0006509 membrane protein ectodomain proteolysis GO:0007219 Notch signaling pathway GO:0007220 Notch receptor processing GO:0016485 protein processing GO:0031293 membrane protein intracellular domain proteolysis GO:0033619 membrane protein proteolysis GO:0042982 amyloid precursor protein metabolic process GO:0042987 amyloid precursor protein catabolic process GO:0048013 ephrin receptor signaling pathway GO:0051604 protein maturation GO:0072001 renal system development |
Molecular Function |
GO:0004175 endopeptidase activity |
Cellular Component |
GO:0005795 Golgi stack GO:0031984 organelle subcompartment GO:0031985 Golgi cisterna GO:0032580 Golgi cisterna membrane GO:0070765 gamma-secretase complex GO:0098791 Golgi subcompartment |
KEGG |
hsa04330 Notch signaling pathway |
Reactome |
R-HSA-157212: A third proteolytic cleavage releases NICD R-HSA-2122948: Activated NOTCH1 Transmits Signal to the Nucleus R-HSA-422475: Axon guidance R-HSA-204998: Cell death signalling via NRAGE, NRIF and NADE R-HSA-2894862: Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants R-HSA-2644606: Constitutive Signaling by NOTCH1 PEST Domain Mutants R-HSA-1266738: Developmental Biology R-HSA-1643685: Disease R-HSA-5663202: Diseases of signal transduction R-HSA-2682334: EPH-Ephrin signaling R-HSA-3928665: EPH-ephrin mediated repulsion of cells R-HSA-2979096: NOTCH2 Activation and Transmission of Signal to the Nucleus R-HSA-205043: NRIF signals cell death from the nucleus R-HSA-1251985: Nuclear signaling by ERBB4 R-HSA-193692: Regulated proteolysis of p75NTR R-HSA-162582: Signal Transduction R-HSA-1236394: Signaling by ERBB4 R-HSA-157118: Signaling by NOTCH R-HSA-1980143: Signaling by NOTCH1 R-HSA-2894858: Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer R-HSA-2644602: Signaling by NOTCH1 PEST Domain Mutants in Cancer R-HSA-2644603: Signaling by NOTCH1 in Cancer R-HSA-1980145: Signaling by NOTCH2 R-HSA-1980148: Signaling by NOTCH3 R-HSA-1980150: Signaling by NOTCH4 R-HSA-166520: Signalling by NGF R-HSA-193704: p75 NTR receptor-mediated signalling |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between APH1A and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of APH1A in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of APH1A in various data sets.
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Points in the above scatter plot represent the mutation difference of APH1A in various data sets.
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Summary | |
---|---|
Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of APH1A. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of APH1A. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by APH1A. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of APH1A. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of APH1A expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between APH1A and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
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Symbol | APH1A |
Name | APH1A gamma secretase subunit |
Aliases | APH-1A; CGI-78; anterior pharynx defective 1 homolog A (C. elegans); 6530402N02Rik; APH-1; anterior pharynx ...... |
Chromosomal Location | 1q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting APH1A collected from DrugBank database. |
Details on drugs targeting APH1A.
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