Free for academic non-profit institutions. Other users need a Commercial license
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 Immunodeficiency 51 and Aortic Valve Disease 1. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and IL-2 Pathway. 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 | -- |
GO:0005515 | protein binding | IPI | 12297508 |
GO:0008233 | peptidase activity | IDA | 12297508 |
GO:0030674 | protein binding, bridging | IMP | 12297508 |
GO:0061133 | endopeptidase activator activity | IMP | 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 | -- |
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 |
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007219 | Notch signaling pathway | IEA,IBA | 21873635 |
GO:0007220 | Notch receptor processing | IDA | 27608597 |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0010950 | positive regulation of endopeptidase activity | IMP | 12297508 |
GO:0016485 | protein processing | IEA,IGI | 12763021 |
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 |
---|---|---|
immunodeficiency 51 |
|
|
aortic valve disease 1 |
|
|