NCSTN
entrez
23385
canonical
uniprot
Q92542
canonical
ensembl
ENSG00000162736
resolver
ensp
ENSP00000294785
resolver
ensp
ENSP00000514419
resolver
ensp
ENSP00000514426
resolver
ensp
ENSP00000514429
resolver
ensp
ENSP00000544188
resolver
enst
ENST00000699527
resolver
enst
ENST00000699543
resolver
enst
ENST00000699549
resolver
genesymbol
NCSTN
resolver
genesymbol_syn
KIAA0253
resolver
hgnc
HGNC:17091
resolver
uniprot
A0A8V8TPQ8
resolver
uniprot
A0A8V8TPR8
resolver
uniprot
B4DR82
resolver
uniprot
Q5T207
resolver
uniprot
Q5T208
resolver
uniprot
Q86VV5
resolver
uniprot_entry
A0A8V8TPQ8_HUMAN
resolver
uniprot_entry
A0A8V8TPR8_HUMAN
resolver
uniprot_entry
B4DR82_HUMAN
resolver
uniprot_entry
NICA_HUMAN
resolver
uniprot_sec
Q5T207
resolver
uniprot_sec
Q5T208
resolver
uniprot_sec
Q86VV5
resolver
amino_acid_sequence
MATAGGGSGADPGSRGLLRLLSFCVLLAGLCRGNSVERKIYIPLNKTAPCVRLLNATHQIGCQSSISGDTGVIHVVEKEEDLQWVLTDGPNPPYMVLLESKHFTRDLMEKLKGRTSRIAGLAVSLTKPSPASGFSPSVQCPNDGFGVYSNSYGPEFAHCREIQWNSLGNGLAYEDFSFPIFLLEDENETKVIKQCYQDHNLSQNGSAPTFPLCAMQLFSHMHAVISTATCMRRSSIQSTFSINPEIVCDPLSDYNVWSMLKPINTTGTLKPDDRVVVAATRLDSRSFFWNVAPGAESAVASFVTQLAAAEALQKAPDVTTLPRNVMFVFFQGETFDYIGSSRMVYDMEKGKFPVQLENVDSFVELGQVALRTSLELWMHTDPVSQKNESVRNQVEDLLATLEKSGAGVPAVILRRPNQSQPLPPSSLQRFLRARNISGVVLADHSGAFHNKYYQSIYDTAENINVSYPEWLSPEEDLNFVTDTAKALADVATVLGRALYELAGGTNFSDTVQADPQTVTRLLYGFLIKANNSWFQSILRQDLRSYLGDGPLQHYIAVSSPTNTTYVVQYALANLTGTVVNLTREQCQDPSKVPSENKDLYEYSWVQGPLHSNETDRLPRCVRSTARLARALSPAFELSQWSSTEYSTWTESRWKDIRARIFLIASKELELITLTVGFGILIFSLIVTYCINAKADVLFIAPREPGAVSY
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20929727, ECO:0000269|PubMed:21430701, ECO:0000269|PubMed:21495993}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}.
uniprot
proteins
mass_dalton
78411
uniprot
proteins
mutagenesis
MUTAGEN 336..337; /note="DY->AA: Increases production of amyloid-beta (beta-APP40 and beta-APP42) in APP processing."; /evidence="ECO:0000269|PubMed:10993067"; MUTAGEN 653; /note="W->A,F: No effect on gamma-secretase activity."; /evidence="ECO:0000269|PubMed:30598546
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}.
uniprot
proteins
protein_family
Nicastrin family
uniprot
proteins
pubmed
10993067
uniprot
proteins
pubmed
11396676
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
12679784
uniprot
proteins
pubmed
12740439
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
20929727
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21430701
uniprot
proteins
pubmed
21495993
uniprot
proteins
pubmed
25043039
uniprot
proteins
pubmed
25918421
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26280335
uniprot
proteins
pubmed
26623517
uniprot
proteins
pubmed
26776682
uniprot
proteins
pubmed
30598546
uniprot
proteins
pubmed
30630874
uniprot
proteins
pubmed
9039502
uniprot
proteins
sequence_length
709
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:26776682}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10993067}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
uniprot
proteins
transmembrane_region
TRANSMEM 670..690; /note="Helical"; /evidence="ECO:0000305|PubMed:26280335, ECO:0000305|PubMed:26776682
uniprot
proteins