InnateDB Protein
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IDBP-15756.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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APH1B
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Protein Name
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anterior pharynx defective 1 homolog B (C. elegans)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000261879
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InnateDB Gene
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IDBG-15754 (APH1B)
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Protein Structure
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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 (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A. {ECO:0000269PubMed:12297508}.
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
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Tissue Specificity |
Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO:0000269PubMed:12740439}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
13 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009294
Gamma-secretase subunit Aph-1
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PFAM |
PF06105
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WW43
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PhosphoSite |
PhosphoSite-Q8WW43
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TrEMBL |
H0YKZ9
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UniProt Splice Variant |
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Entrez Gene |
83464
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UniGene |
Hs.668607
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RefSeq |
NP_112591
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HUGO |
HGNC:24080
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OMIM |
607630
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CCDS |
CCDS10184
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HPRD |
06361
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IMGT |
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EMBL |
AB189172
AC016207
AF508794
AK291204
AL136671
AY358698
BC020905
CH471082
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GenPept |
AAH20905
AAN63817
AAQ89061
BAD95573
BAF83893
CAB66606
EAW77645
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