APH1B (aph-1B gamma-secretase subunit)
| Gene | |
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
83464 |
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Aph-1B gamma-secretase subunit |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
APH1B |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
APH-1B, PRO1328, PSFL, TAAV688, aph-1beta |
|
Chromosome
Chromosome number
|
15 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
15q22.2 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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. |
|
miRNA
miRNA information provided by mirtarbase database.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
|||||||
| Protein | |||||||||||
| UniProt ID | Q8WW43 | ||||||||||
| Protein name | Gamma-secretase subunit APH-1B (APH-1b) (Aph-1beta) (Presenilin-stabilization factor-like) | ||||||||||
| Protein function | Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofact | ||||||||||
| PDB | 8OQY , 8OQZ | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO:0000269|PubMed:12740439}. | ||||||||||
| Sequence |
|
||||||||||
| Sequence length | 257 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|
|
Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
|
||||||||||||||||||||||||||||||||||
|
||||||||||||||||||||||||||||||||||
|
||||||||||||||||||||||||||||||||||