InnateDB Protein
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IDBP-104036.6
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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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NCSTN
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Protein Name
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nicastrin
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Synonyms
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ATAG1874;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000294785
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InnateDB Gene
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IDBG-104034 (NCSTN)
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Protein Structure
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Function |
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Melanosome {ECO:0000269PubMed:12643545, ECO:0000269PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
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Disease Associations |
Acne inversa, familial, 1 (ACNINV1) [MIM:142690]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO:0000269PubMed:20929727, ECO:0000269PubMed:21430701, ECO:0000269PubMed:21495993}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:11396676}.
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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 101 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated |
Total |
101
[view]
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Protein-Protein |
101
[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 |
IPR008710
Nicastrin
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PFAM |
PF05450
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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 |
Q92542
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PhosphoSite |
PhosphoSite-Q92542
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TrEMBL |
E7ENA9
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UniProt Splice Variant |
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Entrez Gene |
23385
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UniGene |
Hs.704160
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RefSeq |
NP_056146
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HUGO |
HGNC:17091
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OMIM |
605254
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CCDS |
CCDS1203
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HPRD |
05584
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IMGT |
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EMBL |
AF240468
AK314764
AL445230
AY359120
BC047621
CH471121
D87442
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GenPept |
AAG11412
AAH47621
AAQ89478
BAA13383
BAG37302
CAI15009
CAI15010
EAW52720
EAW52721
EAW52722
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