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This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
APH1B (Aph-1 Homolog B, Gamma-Secretase Subunit) is a Protein Coding gene. Diseases associated with APH1B include Alzheimer Disease and Aortic Valve Disease 1. Among its related pathways are Signaling by GPCR and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is APH1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 12297508 |
GO:0008233 | peptidase activity | IDA | 12297508 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IBA | 21873635 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0010008 | endosome membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | p75 NTR receptor-mediated signalling | ||
4 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
5 | Developmental Biology |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007219 | Notch signaling pathway | IBA | 21873635 |
GO:0007220 | Notch receptor processing | IBA | 21873635 |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0016485 | protein processing | IEA,IDA | 12297508 |
GO:0031293 | membrane protein intracellular domain proteolysis | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
MK-0752 | Investigational | Pharma | γ-secretase inhibitor | 0 | ||
BMS-906024 | Investigational | Pharma | inhibitor | Gamma-secretase inhibitor | 0 | |
GSI-136 | Investigational | Pharma | 0 | |||
BMS-708163 (Avagacestat) | Pharma | γ-secretase inhibitor | 0 | |||
DAPT (GSI-IX) | Pharma | γ-secretase inhibitor,potent and specific | 0 |
Compound | Action | Cas Number |
---|---|---|
BMS-708163 (Avagacestat) | γ-secretase inhibitor | 1146699-66-2 |
DAPT (GSI-IX) | γ-secretase inhibitor,potent and specific | 208255-80-5 |
LY2811376 | Non-peptidic BACE1 inhibitor | 1194044-20-6 |
LY-411575 | Gamma secretase inhibitor | 209984-57-6 |
MK-0752 | γ-secretase inhibitor | 471905-41-6 |
RO4929097 | γ secretase inhibitor | 847925-91-1 |
Semagacestat (LY450139) | γ-secretase inhibitor | 425386-60-3 |
YO-01027 (Dibenzazepine, DBZ) | γ-secretase inhibitor | 209984-56-5 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APH1B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aph1b 30 17 31 |
|
OneToMany | |
Aph1c 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | APH1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APH1B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APH1B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | aph1b 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | aph-1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | aph-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7022 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1047552 | - | p.Phe217Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1035441 | CNV | gain | 25217958 |
nsv428305 | CNV | gain | 18775914 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease |
|
|
aortic valve disease 1 |
|
|