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Q92542

- NICA_HUMAN

UniProt

Q92542 - NICA_HUMAN

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Protein

Nicastrin

Gene

NCSTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. endopeptidase activity Source: Ensembl

GO - Biological processi

  1. amyloid precursor protein catabolic process Source: HGNC
  2. apoptotic signaling pathway Source: Reactome
  3. beta-amyloid metabolic process Source: Ensembl
  4. epithelial cell proliferation Source: Ensembl
  5. extracellular matrix disassembly Source: Reactome
  6. extracellular matrix organization Source: Reactome
  7. membrane protein ectodomain proteolysis Source: UniProtKB
  8. membrane protein intracellular domain proteolysis Source: Reactome
  9. myeloid cell homeostasis Source: Ensembl
  10. neurotrophin TRK receptor signaling pathway Source: Reactome
  11. Notch receptor processing Source: HGNC
  12. Notch signaling pathway Source: Reactome
  13. positive regulation of apoptotic process Source: Reactome
  14. positive regulation of catalytic activity Source: UniProtKB
  15. protein processing Source: UniProtKB
  16. proteolysis Source: UniProtKB
  17. T cell proliferation Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

ReactomeiREACT_116022. Nuclear signaling by ERBB4.
REACT_118572. Degradation of the extracellular matrix.
REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_13443. Regulated proteolysis of p75NTR.
REACT_13643. NRIF signals cell death from the nucleus.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
REACT_228189. EPH-ephrin mediated repulsion of cells.
SignaLinkiQ92542.

Names & Taxonomyi

Protein namesi
Recommended name:
Nicastrin
Gene namesi
Name:NCSTN
Synonyms:KIAA0253
ORF Names:UNQ1874/PRO4317
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:17091. NCSTN.

Subcellular locationi

Membrane Curated; Single-pass type I membrane protein Curated. Melanosome 2 Publications
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini34 – 669636ExtracellularSequence AnalysisAdd
BLAST
Transmembranei670 – 69021HelicalSequence AnalysisAdd
BLAST
Topological domaini691 – 70919CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. focal adhesion Source: UniProtKB
  4. Golgi apparatus Source: UniProtKB
  5. integral component of membrane Source: UniProtKB
  6. integral component of plasma membrane Source: UniProtKB
  7. lysosomal membrane Source: UniProtKB
  8. membrane Source: UniProtKB
  9. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti211 – 2111P → R in ACNINV1. 1 Publication
VAR_067756

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi336 – 3372DY → AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi142690. phenotype.
Orphaneti387. Hidradenitis suppurativa.
PharmGKBiPA142671271.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3333Sequence AnalysisAdd
BLAST
Chaini34 – 709676NicastrinPRO_0000019681Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi45 – 451N-linked (GlcNAc...)1 Publication
Glycosylationi55 – 551N-linked (GlcNAc...)Sequence Analysis
Glycosylationi187 – 1871N-linked (GlcNAc...)1 Publication
Glycosylationi200 – 2001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi387 – 3871N-linked (GlcNAc...)2 Publications
Glycosylationi417 – 4171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi435 – 4351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi464 – 4641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi530 – 5301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi562 – 5621N-linked (GlcNAc...)Sequence Analysis
Glycosylationi573 – 5731N-linked (GlcNAc...)Sequence Analysis
Glycosylationi580 – 5801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi612 – 6121N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ92542.
PaxDbiQ92542.
PRIDEiQ92542.

PTM databases

PhosphoSiteiQ92542.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Constitutively expressed in neural cells.1 Publication

Gene expression databases

BgeeiQ92542.
CleanExiHS_NCSTN.
ExpressionAtlasiQ92542. baseline and differential.
GenevestigatoriQ92542.

Organism-specific databases

HPAiCAB021982.
HPA051793.

Interactioni

Subunit structurei

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).

Binary interactionsi

WithEntry#Exp.IntActNotes
APH1AQ96BI33EBI-998440,EBI-2606935
PSEN1P497683EBI-998440,EBI-297277
PSENENQ9NZ423EBI-998440,EBI-998468
TMED10P497555EBI-998440,EBI-998422

Protein-protein interaction databases

BioGridi116961. 76 interactions.
DIPiDIP-36336N.
IntActiQ92542. 13 interactions.
MINTiMINT-3048708.
STRINGi9606.ENSP00000294785.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4UPCelectron microscopy5.40A1-709[»]
ProteinModelPortaliQ92542.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the nicastrin family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG253370.
GeneTreeiENSGT00390000014633.
HOGENOMiHOG000044212.
HOVERGENiHBG006497.
InParanoidiQ92542.
KOiK06171.
OMAiHMHAVIS.
OrthoDBiEOG77WWCF.
PhylomeDBiQ92542.
TreeFamiTF317086.

Family and domain databases

InterProiIPR008710. Nicastrin.
[Graphical view]
PANTHERiPTHR21092. PTHR21092. 1 hit.
PfamiPF05450. Nicastrin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92542-1) [UniParc]FASTAAdd to Basket

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.

« Hide

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

PREPGAVSY
Length:709
Mass (Da):78,411
Last modified:January 11, 2001 - v2
Checksum:iC8C0EAEAD89E976A
GO
Isoform 2 (identifier: Q92542-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:689
Mass (Da):76,744
Checksum:i58A8EE3F50F93459
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti657 – 6571R → H in AAH47621. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751V → I.
Corresponds to variant rs12045198 [ dbSNP | Ensembl ].
VAR_050274
Natural varianti77 – 771E → D.
Corresponds to variant rs35603924 [ dbSNP | Ensembl ].
VAR_050275
Natural varianti211 – 2111P → R in ACNINV1. 1 Publication
VAR_067756

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2020Missing in isoform 2. 1 PublicationVSP_008385Add
BLAST
Alternative sequencei21 – 299LSFCVLLAG → MDFNLILES in isoform 2. 1 PublicationVSP_008386

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1203.1. [Q92542-1]
RefSeqiNP_001277113.1. NM_001290184.1. [Q92542-2]
NP_001277115.1. NM_001290186.1.
NP_056146.1. NM_015331.2. [Q92542-1]
UniGeneiHs.517249.

Genome annotation databases

EnsembliENST00000294785; ENSP00000294785; ENSG00000162736. [Q92542-1]
ENST00000368063; ENSP00000357042; ENSG00000162736. [Q92542-2]
GeneIDi23385.
KEGGihsa:23385.
UCSCiuc001fvx.3. human. [Q92542-1]
uc001fvy.3. human. [Q92542-2]

Polymorphism databases

DMDMi12231037.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS1203.1. [Q92542-1 ]
RefSeqi NP_001277113.1. NM_001290184.1. [Q92542-2 ]
NP_001277115.1. NM_001290186.1.
NP_056146.1. NM_015331.2. [Q92542-1 ]
UniGenei Hs.517249.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4UPC electron microscopy 5.40 A 1-709 [» ]
ProteinModelPortali Q92542.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116961. 76 interactions.
DIPi DIP-36336N.
IntActi Q92542. 13 interactions.
MINTi MINT-3048708.
STRINGi 9606.ENSP00000294785.

Chemistry

BindingDBi Q92542.
ChEMBLi CHEMBL2094135.

PTM databases

PhosphoSitei Q92542.

Polymorphism databases

DMDMi 12231037.

Proteomic databases

MaxQBi Q92542.
PaxDbi Q92542.
PRIDEi Q92542.

Protocols and materials databases

DNASUi 23385.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000294785 ; ENSP00000294785 ; ENSG00000162736 . [Q92542-1 ]
ENST00000368063 ; ENSP00000357042 ; ENSG00000162736 . [Q92542-2 ]
GeneIDi 23385.
KEGGi hsa:23385.
UCSCi uc001fvx.3. human. [Q92542-1 ]
uc001fvy.3. human. [Q92542-2 ]

Organism-specific databases

CTDi 23385.
GeneCardsi GC01P160313.
HGNCi HGNC:17091. NCSTN.
HPAi CAB021982.
HPA051793.
MIMi 142690. phenotype.
605254. gene.
neXtProti NX_Q92542.
Orphaneti 387. Hidradenitis suppurativa.
PharmGKBi PA142671271.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253370.
GeneTreei ENSGT00390000014633.
HOGENOMi HOG000044212.
HOVERGENi HBG006497.
InParanoidi Q92542.
KOi K06171.
OMAi HMHAVIS.
OrthoDBi EOG77WWCF.
PhylomeDBi Q92542.
TreeFami TF317086.

Enzyme and pathway databases

Reactomei REACT_116022. Nuclear signaling by ERBB4.
REACT_118572. Degradation of the extracellular matrix.
REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_13443. Regulated proteolysis of p75NTR.
REACT_13643. NRIF signals cell death from the nucleus.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
REACT_228189. EPH-ephrin mediated repulsion of cells.
SignaLinki Q92542.

Miscellaneous databases

ChiTaRSi NCSTN. human.
GeneWikii Nicastrin.
GenomeRNAii 23385.
NextBioi 45500.
PROi Q92542.
SOURCEi Search...

Gene expression databases

Bgeei Q92542.
CleanExi HS_NCSTN.
ExpressionAtlasi Q92542. baseline and differential.
Genevestigatori Q92542.

Family and domain databases

InterProi IPR008710. Nicastrin.
[Graphical view ]
PANTHERi PTHR21092. PTHR21092. 1 hit.
Pfami PF05450. Nicastrin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MUTAGENESIS OF 336-ASP-TYR-337.
    Tissue: Embryonic kidney.
  2. 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. 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. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    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. 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. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    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.
    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.
    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. 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.

Entry informationi

Entry nameiNICA_HUMAN
AccessioniPrimary (citable) accession number: Q92542
Secondary accession number(s): Q5T207, Q5T208, Q86VV5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 11, 2001
Last modified: November 26, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3