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Q92542

- NICA_HUMAN

UniProt

Q92542 - NICA_HUMAN

Protein

Nicastrin

Gene

NCSTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    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
    2. protein binding Source: UniProtKB

    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

    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.
    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.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt
    3. Golgi apparatus Source: UniProtKB
    4. integral component of membrane Source: UniProtKB
    5. integral component of plasma membrane Source: UniProtKB
    6. lysosomal membrane Source: UniProtKB
    7. melanosome Source: UniProtKB-SubCell
    8. membrane Source: UniProtKB
    9. plasma membrane Source: Reactome

    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

    ArrayExpressiQ92542.
    BgeeiQ92542.
    CleanExiHS_NCSTN.
    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. 75 interactions.
    DIPiDIP-36336N.
    IntActiQ92542. 13 interactions.
    MINTiMINT-3048708.
    STRINGi9606.ENSP00000294785.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92542.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei670 – 69021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the nicastrin family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG253370.
    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

    MATAGGGSGA DPGSRGLLRL LSFCVLLAGL CRGNSVERKI YIPLNKTAPC    50
    VRLLNATHQI GCQSSISGDT GVIHVVEKEE DLQWVLTDGP NPPYMVLLES 100
    KHFTRDLMEK LKGRTSRIAG LAVSLTKPSP ASGFSPSVQC PNDGFGVYSN 150
    SYGPEFAHCR EIQWNSLGNG LAYEDFSFPI FLLEDENETK VIKQCYQDHN 200
    LSQNGSAPTF PLCAMQLFSH MHAVISTATC MRRSSIQSTF SINPEIVCDP 250
    LSDYNVWSML KPINTTGTLK PDDRVVVAAT RLDSRSFFWN VAPGAESAVA 300
    SFVTQLAAAE ALQKAPDVTT LPRNVMFVFF QGETFDYIGS SRMVYDMEKG 350
    KFPVQLENVD SFVELGQVAL RTSLELWMHT DPVSQKNESV RNQVEDLLAT 400
    LEKSGAGVPA VILRRPNQSQ PLPPSSLQRF LRARNISGVV LADHSGAFHN 450
    KYYQSIYDTA ENINVSYPEW LSPEEDLNFV TDTAKALADV ATVLGRALYE 500
    LAGGTNFSDT VQADPQTVTR LLYGFLIKAN NSWFQSILRQ DLRSYLGDGP 550
    LQHYIAVSSP TNTTYVVQYA LANLTGTVVN LTREQCQDPS KVPSENKDLY 600
    EYSWVQGPLH SNETDRLPRC VRSTARLARA LSPAFELSQW SSTEYSTWTE 650
    SRWKDIRARI FLIASKELEL ITLTVGFGIL IFSLIVTYCI NAKADVLFIA 700
    PREPGAVSY 709
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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

    ProteinModelPortali Q92542.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116961. 75 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.
    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.
    SignaLinki Q92542.

    Miscellaneous databases

    GeneWikii Nicastrin.
    GenomeRNAii 23385.
    NextBioi 45500.
    PROi Q92542.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92542.
    Bgeei Q92542.
    CleanExi HS_NCSTN.
    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

    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: October 1, 2014
    This is version 136 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3