RBCC Red Blood Cell Collection

NICA_HUMAN

Source: hRBCD ; ID: IPI00021983
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: NCSTN , KIAA0253 , UNQ1874/PRO4317
Protein names and data: NICA_HUMAN , Nicastrin; Flags: Precursor Lenght: 709 a.a.
Mass: 78411 Da
fasta formatted sequence
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.
Disease: ( OMIM: 142690 605254 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Single-pass type I membrane protein (Potential). Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue specificity: Widely expressed.

Genetic variants

75 - 75 V -> I (in dbSNP:rs12045198). VAR_050274 12045198
77 - 77 E -> D (in dbSNP:rs35603924). VAR_050275 35603924
211 - 211 P -> R (in ACNINV1). VAR_067756

Database cross-references

UniProt: Q92542
Ensembl: ENST00000294785
Ensembl: ENST00000368063
Ensembl: ENST00000392212
MIM: 142690
MIM: 605254
neXtProt: NX_Q92542
Antibodypedia: Q92542 (may not find the protein thus also not any antibody)
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