Q92542 (NICA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nicastrin

Gene names

Name:	NCSTN
Synonyms:	KIAA0253
ORF Names:	UNQ1874/PRO4317

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	709 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP).
Subcellular location	Membrane; Single-pass type I membrane protein Potential. Melanosome. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Ref.9 Ref.13
Tissue specificity	Widely expressed. Ref.8
Induction	Constitutively expressed in neural cells. Ref.8
Involvement in disease	Familial acne inversa 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. Ref.16 Ref.18 Ref.19
Sequence similarities	Belongs to the nicastrin family.

Ontologies

Keywords
Biological process	Notch signaling pathway
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Notch receptor processing Traceable author statement PubMed 15274632. Source: HGNC Notch signaling pathway Traceable author statement. Source: Reactome T cell proliferation Inferred from electronic annotation. Source: Compara amyloid precursor protein catabolic process Traceable author statement PubMed 15274632. Source: HGNC apoptotic process Traceable author statement. Source: Reactome beta-amyloid metabolic process Inferred from electronic annotation. Source: Compara epithelial cell proliferation Inferred from electronic annotation. Source: Compara membrane protein ectodomain proteolysis Inferred from sequence or structural similarity. Source: UniProtKB membrane protein intracellular domain proteolysis Traceable author statement. Source: Reactome myeloid cell homeostasis Inferred from electronic annotation. Source: Compara nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of catalytic activity Inferred from sequence or structural similarity. Source: UniProtKB protein processing Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum Inferred from sequence or structural similarity. Source: UniProtKB integral to plasma membrane Inferred from sequence or structural similarity. Source: UniProtKB lysosomal membrane Inferred from electronic annotation. Source: Compara melanosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	endopeptidase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TMED10	P49755	5	EBI-998440,EBI-998422

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q92542-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q92542-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.
     21-29: LSFCVLLAG → MDFNLILES

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 33	33	Potential
	Chain	34 – 709	676	Nicastrin		PRO_0000019681
Regions
	Topological domain	34 – 669	636	Extracellular Potential
	Transmembrane	670 – 690	21	Helical; Potential
	Topological domain	691 – 709	19	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	45	1	N-linked (GlcNAc...) Ref.14
	Glycosylation	55	1	N-linked (GlcNAc...) Potential
	Glycosylation	187	1	N-linked (GlcNAc...) Ref.14
	Glycosylation	200	1	N-linked (GlcNAc...) Potential
	Glycosylation	204	1	N-linked (GlcNAc...) Potential
	Glycosylation	264	1	N-linked (GlcNAc...) Potential
	Glycosylation	387	1	N-linked (GlcNAc...) Ref.12 Ref.14
	Glycosylation	417	1	N-linked (GlcNAc...) Potential
	Glycosylation	435	1	N-linked (GlcNAc...) Potential
	Glycosylation	464	1	N-linked (GlcNAc...) Potential
	Glycosylation	506	1	N-linked (GlcNAc...) Potential
	Glycosylation	530	1	N-linked (GlcNAc...) Potential
	Glycosylation	562	1	N-linked (GlcNAc...) Potential
	Glycosylation	573	1	N-linked (GlcNAc...) Potential
	Glycosylation	580	1	N-linked (GlcNAc...) Potential
	Glycosylation	612	1	N-linked (GlcNAc...) Ref.15
Natural variations
	Alternative sequence	1 – 20	20	Missing in isoform 2.		VSP_008385
	Alternative sequence	21 – 29	9	LSFCVLLAG → MDFNLILES in isoform 2.		VSP_008386
	Natural variant	75	1	V → I. Corresponds to variant rs12045198 [ dbSNP | Ensembl ].		VAR_050274
	Natural variant	77	1	E → D. Corresponds to variant rs35603924 [ dbSNP | Ensembl ].		VAR_050275
	Natural variant	211	1	P → R in ACNINV1. Ref.19		VAR_067756
Experimental info
	Mutagenesis	336 – 337	2	DY → AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing. Ref.1
	Sequence conflict	657	1	R → H in AAH47621. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2001. Version 2. Checksum: C8C0EAEAD89E976A	FASTA	709	78,411
	10 20 30 40 50 60 MATAGGGSGA DPGSRGLLRL LSFCVLLAGL CRGNSVERKI YIPLNKTAPC VRLLNATHQI 70 80 90 100 110 120 GCQSSISGDT GVIHVVEKEE DLQWVLTDGP NPPYMVLLES KHFTRDLMEK LKGRTSRIAG 130 140 150 160 170 180 LAVSLTKPSP ASGFSPSVQC PNDGFGVYSN SYGPEFAHCR EIQWNSLGNG LAYEDFSFPI 190 200 210 220 230 240 FLLEDENETK VIKQCYQDHN LSQNGSAPTF PLCAMQLFSH MHAVISTATC MRRSSIQSTF 250 260 270 280 290 300 SINPEIVCDP LSDYNVWSML KPINTTGTLK PDDRVVVAAT RLDSRSFFWN VAPGAESAVA 310 320 330 340 350 360 SFVTQLAAAE ALQKAPDVTT LPRNVMFVFF QGETFDYIGS SRMVYDMEKG KFPVQLENVD 370 380 390 400 410 420 SFVELGQVAL RTSLELWMHT DPVSQKNESV RNQVEDLLAT LEKSGAGVPA VILRRPNQSQ 430 440 450 460 470 480 PLPPSSLQRF LRARNISGVV LADHSGAFHN KYYQSIYDTA ENINVSYPEW LSPEEDLNFV 490 500 510 520 530 540 TDTAKALADV ATVLGRALYE LAGGTNFSDT VQADPQTVTR LLYGFLIKAN NSWFQSILRQ 550 560 570 580 590 600 DLRSYLGDGP LQHYIAVSSP TNTTYVVQYA LANLTGTVVN LTREQCQDPS KVPSENKDLY 610 620 630 640 650 660 EYSWVQGPLH SNETDRLPRC VRSTARLARA LSPAFELSQW SSTEYSTWTE SRWKDIRARI 670 680 690 700 FLIASKELEL ITLTVGFGIL IFSLIVTYCI NAKADVLFIA PREPGAVSY
	Isoform 2 [UniParc]. Checksum: 58A8EE3F50F93459	FASTA	689	76,744
	10 20 30 40 50 60 MDFNLILESL CRGNSVERKI YIPLNKTAPC VRLLNATHQI GCQSSISGDT GVIHVVEKEE 70 80 90 100 110 120 DLQWVLTDGP NPPYMVLLES KHFTRDLMEK LKGRTSRIAG LAVSLTKPSP ASGFSPSVQC 130 140 150 160 170 180 PNDGFGVYSN SYGPEFAHCR EIQWNSLGNG LAYEDFSFPI FLLEDENETK VIKQCYQDHN 190 200 210 220 230 240 LSQNGSAPTF PLCAMQLFSH MHAVISTATC MRRSSIQSTF SINPEIVCDP LSDYNVWSML 250 260 270 280 290 300 KPINTTGTLK PDDRVVVAAT RLDSRSFFWN VAPGAESAVA SFVTQLAAAE ALQKAPDVTT 310 320 330 340 350 360 LPRNVMFVFF QGETFDYIGS SRMVYDMEKG KFPVQLENVD SFVELGQVAL RTSLELWMHT 370 380 390 400 410 420 DPVSQKNESV RNQVEDLLAT LEKSGAGVPA VILRRPNQSQ PLPPSSLQRF LRARNISGVV 430 440 450 460 470 480 LADHSGAFHN KYYQSIYDTA ENINVSYPEW LSPEEDLNFV TDTAKALADV ATVLGRALYE 490 500 510 520 530 540 LAGGTNFSDT VQADPQTVTR LLYGFLIKAN NSWFQSILRQ DLRSYLGDGP LQHYIAVSSP 550 560 570 580 590 600 TNTTYVVQYA LANLTGTVVN LTREQCQDPS KVPSENKDLY EYSWVQGPLH SNETDRLPRC 610 620 630 640 650 660 VRSTARLARA LSPAFELSQW SSTEYSTWTE SRWKDIRARI FLIASKELEL ITLTVGFGIL 670 680 IFSLIVTYCI NAKADVLFIA PREPGAVSY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing." Yu G., Nishimura M., Arawaka S., Levitan D., Zhang L., Tandon A., Song Y.-Q., Rogaeva E., Chen F., Kawarai T., Supala A., Levesque L., Yu H., Yang D.-S., Holmes E., Milman P., Liang Y., Zhang D.M. , Xu D.H., Sato C., Rogaev E., Smith M., Janus C., Zhang Y., Aebersold R., Farrer L.S., Sorbi S., Bruni A., Fraser P.E., St George-Hyslop P.H. Nature 407:48-54(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MUTAGENESIS OF 336-ASP-TYR-337. Tissue: Embryonic kidney.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[7]	"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-709 (ISOFORM 1). Tissue: Bone marrow.
[8]	"Nicastrin, a key regulator of presenilin function, is expressed constitutively in human neural cell lines." Satoh J., Kuroda Y. Neuropathology 21:115-122(2001) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INDUCTION.
[9]	"Proteomic analysis of early melanosomes: identification of novel melanosomal proteins." Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E. J. Proteome Res. 2:69-79(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma.
[10]	"Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2." Kimberly W.T., LaVoie M.J., Ostaszewski B.L., Ye W., Wolfe M.S., Selkoe D.J. Proc. Natl. Acad. Sci. U.S.A. 100:6382-6387(2003) [PubMed] [Europe PMC] [Abstract] Cited for: COMPONENT OF A GAMMA-SECRETASE COMPLEX WITH PEN2; PSEN1/PSEN2 AND APH1A.
[11]	"Reconstitution of gamma-secretase activity." Edbauer D., Winkler E., Regula J.T., Pesold B., Steiner H., Haass C. Nat. Cell Biol. 5:486-488(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ENZYME ACTIVITY OF A GAMMA-SECRETASE COMPLEX.
[12]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-387.
[13]	"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma.
[14]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45; ASN-187 AND ASN-387, MASS SPECTROMETRY. Tissue: Liver.
[15]	"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-612, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[16]	"Gamma-secretase gene mutations in familial acne inversa." Wang B., Yang W., Wen W., Sun J., Su B., Liu B., Ma D., Lv D., Wen Y., Qu T., Chen M., Sun M., Shen Y., Zhang X. Science 330:1065-1065(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN ACNINV1.
[17]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[18]	"Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa)." Liu Y., Gao M., Lv Y.M., Yang X., Ren Y.Q., Jiang T., Zhang X., Guo B.R., Li M., Zhang Q., Zhang P., Zhou F.S., Chen G., Yin X.Y., Zuo X.B., Sun L.D., Zheng X.D., Zhang S.M. , Liu J.J., Zhou Y., Li Y.R., Wang J., Wang J., Yang H.M., Yang S., Li R.Q., Zhang X.J. J. Invest. Dermatol. 131:1570-1572(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN ACNINV1.
[19]	"Two novel mutations of the nicastrin gene in Chinese patients with acne inversa." Li C.R., Jiang M.J., Shen D.B., Xu H.X., Wang H.S., Yao X., Zhang Y., Zhou W.Q., Wang B. Br. J. Dermatol. 165:415-418(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ACNINV1 ARG-211.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF240468 mRNA. Translation: AAG11412.1. AY359120 mRNA. Translation: AAQ89478.1. AK314764 mRNA. Translation: BAG37302.1. AL445230 Genomic DNA. Translation: CAI15009.1. AL445230 Genomic DNA. Translation: CAI15010.1. CH471121 Genomic DNA. Translation: EAW52720.1. CH471121 Genomic DNA. Translation: EAW52721.1. CH471121 Genomic DNA. Translation: EAW52722.1. BC047621 mRNA. Translation: AAH47621.1. D87442 mRNA. Translation: BAA13383.1.
IPI	IPI00021983. IPI00375688.
RefSeq	NP_056146.1. NM_015331.2.
UniGene	Hs.517249.
3D structure databases
ProteinModelPortal	Q92542.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-36336N.
IntAct	Q92542. 9 interactions.
MINT	MINT-3048708.
STRING	9606.ENSP00000294785.
PTM databases
PhosphoSite	Q92542.
Polymorphism databases
DMDM	12231037.
Proteomic databases
PaxDb	Q92542.
PRIDE	Q92542.
Protocols and materials databases
DNASU	23385.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294785; ENSP00000294785; ENSG00000162736. ENST00000368063; ENSP00000357042; ENSG00000162736. ENST00000392212; ENSP00000376047; ENSG00000162736.
GeneID	23385.
KEGG	hsa:23385.
UCSC	uc001fvx.3. human. uc001fvy.3. human.
Organism-specific databases
CTD	23385.
GeneCards	GC01P160313.
HGNC	HGNC:17091. NCSTN.
HPA	CAB021982.
MIM	142690. phenotype. 605254. gene.
neXtProt	NX_Q92542.
PharmGKB	PA142671271.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253370.
HOGENOM	HOG000044212.
HOVERGEN	HBG006497.
InParanoid	Q92542.
KO	K06171.
OMA	HMHAVIS.
OrthoDB	EOG4STS48.
PhylomeDB	Q92542.
Enzyme and pathway databases
Pathway_Interaction_DB	p75ntrpathway. p75(NTR)-mediated signaling. ps1pathway. Presenilin action in Notch and Wnt signaling. syndecan_3_pathway. Syndecan-3-mediated signaling events.
Reactome	REACT_111102. Signal Transduction. REACT_691. A third proteolytic cleavage releases NICD.
Gene expression databases
ArrayExpress	Q92542.
Bgee	Q92542.
CleanEx	HS_NCSTN.
Genevestigator	Q92542.
GermOnline	ENSG00000162736. Homo sapiens.
Family and domain databases
InterPro	IPR008710. Nicastrin. [Graphical view]
PANTHER	PTHR21092. PTHR21092. 1 hit.
Pfam	PF05450. Nicastrin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q92542.
ChEMBL	CHEMBL3418.
GenomeRNAi	23385.
NextBio	45500.
SOURCE	Search...

Entry information

Entry name

NICA_HUMAN

Accession

Primary (citable) accession number: Q92542
Secondary accession number(s): Q5T207, Q5T208, Q86VV5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	January 11, 2001
Last modified:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.