Details for: APH1A

Gene ID: 51107

Symbol: APH1A

Ensembl ID: ENSG00000117362

Description: aph-1 homolog A, gamma-secretase subunit

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 263.6532
    Cell Significance Index: -41.0100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.7598
    Cell Significance Index: -33.4200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 122.0058
    Cell Significance Index: -50.2600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 106.6566
    Cell Significance Index: -43.3300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 100.6518
    Cell Significance Index: -47.5200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.7406
    Cell Significance Index: -47.1900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 70.8397
    Cell Significance Index: -47.5400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.9624
    Cell Significance Index: -44.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.9421
    Cell Significance Index: -34.6700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.4849
    Cell Significance Index: -45.3200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.2427
    Cell Significance Index: -31.4600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.4099
    Cell Significance Index: -11.8400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.9349
    Cell Significance Index: 56.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.7753
    Cell Significance Index: 37.1600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7392
    Cell Significance Index: 47.3400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5821
    Cell Significance Index: 21.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.2282
    Cell Significance Index: 168.6700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.1574
    Cell Significance Index: 136.4900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.1303
    Cell Significance Index: 29.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.1280
    Cell Significance Index: 84.0700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.0908
    Cell Significance Index: 13.9700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.0700
    Cell Significance Index: 138.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0247
    Cell Significance Index: 53.2300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.0183
    Cell Significance Index: 8.1300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.0115
    Cell Significance Index: 35.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9759
    Cell Significance Index: 45.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9715
    Cell Significance Index: 119.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9623
    Cell Significance Index: 425.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.9332
    Cell Significance Index: 509.6500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9290
    Cell Significance Index: 10.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9282
    Cell Significance Index: 167.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9026
    Cell Significance Index: 146.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8626
    Cell Significance Index: 61.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8607
    Cell Significance Index: 40.4500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.7993
    Cell Significance Index: 9.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7524
    Cell Significance Index: 20.1300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7099
    Cell Significance Index: 15.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5995
    Cell Significance Index: 38.6800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5727
    Cell Significance Index: 73.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5010
    Cell Significance Index: 99.4200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.4829
    Cell Significance Index: 8.9300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4724
    Cell Significance Index: 4.3500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.4149
    Cell Significance Index: 4.3000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.2700
    Cell Significance Index: 4.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2667
    Cell Significance Index: 7.6900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2608
    Cell Significance Index: 49.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2500
    Cell Significance Index: 24.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1730
    Cell Significance Index: 5.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1293
    Cell Significance Index: 25.9300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0515
    Cell Significance Index: 1.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0457
    Cell Significance Index: 31.6100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0454
    Cell Significance Index: 1.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0368
    Cell Significance Index: 13.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0351
    Cell Significance Index: 1.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0287
    Cell Significance Index: 0.4800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0264
    Cell Significance Index: 20.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0056
    Cell Significance Index: 0.1500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0018
    Cell Significance Index: 0.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0001
    Cell Significance Index: 0.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0060
    Cell Significance Index: -4.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0214
    Cell Significance Index: -3.6500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0295
    Cell Significance Index: -54.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0364
    Cell Significance Index: -56.0900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0382
    Cell Significance Index: -0.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0432
    Cell Significance Index: -58.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0447
    Cell Significance Index: -1.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0534
    Cell Significance Index: -39.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0539
    Cell Significance Index: -34.2200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0699
    Cell Significance Index: -39.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0829
    Cell Significance Index: -51.7500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0987
    Cell Significance Index: -44.7900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1539
    Cell Significance Index: -17.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1630
    Cell Significance Index: -46.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1853
    Cell Significance Index: -21.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1948
    Cell Significance Index: -28.3200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2303
    Cell Significance Index: -5.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2525
    Cell Significance Index: -53.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2643
    Cell Significance Index: -16.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2648
    Cell Significance Index: -6.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2678
    Cell Significance Index: -14.0600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2916
    Cell Significance Index: -7.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3076
    Cell Significance Index: -6.5500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4323
    Cell Significance Index: -45.0200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4827
    Cell Significance Index: -29.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5252
    Cell Significance Index: -40.3000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5302
    Cell Significance Index: -41.9900
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.5415
    Cell Significance Index: -3.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5910
    Cell Significance Index: -39.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6403
    Cell Significance Index: -35.9300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6461
    Cell Significance Index: -19.0300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.6863
    Cell Significance Index: -4.6500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.7648
    Cell Significance Index: -11.4600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7774
    Cell Significance Index: -47.6600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.8057
    Cell Significance Index: -41.9700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.8213
    Cell Significance Index: -11.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8874
    Cell Significance Index: -39.2500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9694
    Cell Significance Index: -35.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0582
    Cell Significance Index: -40.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.0765
    Cell Significance Index: -27.6700
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -1.0862
    Cell Significance Index: -6.8000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Gamma-secretase subunit**: APH1A is a component of the gamma-secretase complex, which is responsible for the intramembranous cleavage of APP and other proteins. 2. **Amyloid-beta formation**: APH1A participates in the formation of amyloid-beta peptides through the cleavage of APP, which is a hallmark of neurodegenerative diseases such as Alzheimer's. 3. **Notch signaling**: APH1A is involved in the Notch signaling pathway, which regulates cell fate decisions, differentiation, and proliferation in various tissues. 4. **Cell death signaling**: APH1A is also implicated in cell death signaling pathways, including the regulation of apoptosis and necroptosis. **Pathways and Functions:** 1. **Notch signaling pathway**: APH1A is a key component of the Notch signaling pathway, which regulates cell fate decisions, differentiation, and proliferation in various tissues. 2. **Amyloid-beta formation**: APH1A participates in the formation of amyloid-beta peptides through the cleavage of APP, which is a hallmark of neurodegenerative diseases such as Alzheimer's. 3. **Cell death signaling**: APH1A is involved in cell death signaling pathways, including the regulation of apoptosis and necroptosis. 4. **Protein processing**: APH1A is involved in the intramembranous cleavage of proteins, including APP, Notch, and other proteins. 5. **Gamma-secretase complex**: APH1A is a component of the gamma-secretase complex, which is responsible for the intramembranous cleavage of APP and other proteins. **Clinical Significance:** 1. **Alzheimer's disease**: APH1A is implicated in the formation of amyloid-beta peptides, which are a hallmark of Alzheimer's disease. 2. **Cancer**: APH1A is involved in the Notch signaling pathway, which is dysregulated in various cancers, including breast, lung, and colon cancer. 3. **Neurodevelopmental disorders**: APH1A is involved in the Notch signaling pathway, which is dysregulated in neurodevelopmental disorders such as schizophrenia and autism spectrum disorder. 4. **Immune function**: APH1A is involved in the regulation of immune cell function and is implicated in autoimmune diseases such as rheumatoid arthritis and multiple sclerosis. In conclusion, the APH1A gene plays a crucial role in various cellular processes, including signal transduction, protein processing, and cell signaling. Its dysregulation is implicated in neurodegenerative diseases, cancer, and immune function disorders, highlighting the importance of further research into the molecular mechanisms underlying these diseases.

Genular Protein ID: 2266872274

Symbol: APH1A_HUMAN

Name: Gamma-secretase subunit APH-1A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12297508

Title: Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.

PubMed ID: 12297508

DOI: 10.1074/jbc.m208164200

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12110170

Title: aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation.

PubMed ID: 12110170

DOI: 10.1016/s1534-5807(02)00189-2

PubMed ID: 12522139

Title: PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1.

PubMed ID: 12522139

DOI: 10.1074/jbc.c200648200

PubMed ID: 12471034

Title: APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.

PubMed ID: 12471034

DOI: 10.1074/jbc.m209499200

PubMed ID: 12763021

Title: APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity.

PubMed ID: 12763021

DOI: 10.1016/s0006-291x(03)00797-6

PubMed ID: 12740439

Title: Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2.

PubMed ID: 12740439

DOI: 10.1073/pnas.1037392100

PubMed ID: 12679784

Title: Reconstitution of gamma-secretase activity.

PubMed ID: 12679784

DOI: 10.1038/ncb960

PubMed ID: 14593096

Title: Membrane topology and nicastrin-enhanced endoproteolysis of APH-1, a component of the gamma-secretase complex.

PubMed ID: 14593096

DOI: 10.1074/jbc.m310505200

PubMed ID: 19369254

Title: APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.

PubMed ID: 19369254

DOI: 10.1074/jbc.m109.000067

PubMed ID: 25043039

Title: Three-dimensional structure of human gamma-secretase.

PubMed ID: 25043039

DOI: 10.1038/nature13567

PubMed ID: 26623517

Title: Sampling the conformational space of the catalytic subunit of human gamma-secretase.

PubMed ID: 26623517

DOI: 10.7554/elife.11182

PubMed ID: 26280335

Title: An atomic structure of human gamma-secretase.

PubMed ID: 26280335

DOI: 10.1038/nature14892

PubMed ID: 30598546

Title: Structural basis of Notch recognition by human gamma-secretase.

PubMed ID: 30598546

DOI: 10.1038/s41586-018-0813-8

PubMed ID: 30630874

Title: Recognition of the amyloid precursor protein by human gamma-secretase.

PubMed ID: 30630874

DOI: 10.1126/science.aaw0930

Sequence Information:

  • Length: 265
  • Mass: 28996
  • Checksum: 8E37984A1DECC263
  • Sequence:
  • MGAAVFFGCT FVAFGPAFAL FLITVAGDPL RVIILVAGAF FWLVSLLLAS VVWFILVHVT 
    DRSDARLQYG LLIFGAAVSV LLQEVFRFAY YKLLKKADEG LASLSEDGRS PISIRQMAYV 
    SGLSFGIISG VFSVINILAD ALGPGVVGIH GDSPYYFLTS AFLTAAIILL HTFWGVVFFD 
    ACERRRYWAL GLVVGSHLLT SGLTFLNPWY EASLLPIYAV TVSMGLWAFI TAGGSLRSIQ 
    RSLLCRRQED SRVMVYSALR IPPED

Genular Protein ID: 366537363

Symbol: B4DUG7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 190
  • Mass: 20250
  • Checksum: 7C8F464511739F65
  • Sequence:
  • MGAAVFFGCT FVAFGPAFAL FLITVAGDPL RVIILVAGKA DEGLASLSED GRSPISIRQM 
    AYVSGLSFGI ISGVFSVINI LADALGPGVV GIHGDSPYYF LTSAFLTAAI ILLHTFWGVV 
    FFDACERRRY WALGLVVGSH LLTSGLTFLN PWYEASLLPI YAVTVSMGLW AFITAGGSLR 
    SIQRSLLCKD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.