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P61916

- NPC2_HUMAN

UniProt

P61916 - NPC2_HUMAN

Protein

Epididymal secretory protein E1

Gene

NPC2

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

    Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport.3 Publications

    GO - Molecular functioni

    1. cholesterol binding Source: UniProtKB
    2. enzyme binding Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. cholesterol efflux Source: BHF-UCL
    2. cholesterol homeostasis Source: UniProtKB
    3. cholesterol metabolic process Source: UniProtKB-KW
    4. cholesterol transport Source: UniProtKB
    5. glycolipid transport Source: HGNC
    6. intracellular cholesterol transport Source: UniProtKB
    7. intracellular sterol transport Source: HGNC
    8. phospholipid transport Source: HGNC
    9. regulation of isoprenoid metabolic process Source: UniProtKB
    10. response to virus Source: UniProtKB

    Keywords - Biological processi

    Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

    Protein family/group databases

    TCDBi2.A.6.6.1. the resistance-nodulation-cell division (rnd) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Epididymal secretory protein E1
    Alternative name(s):
    Human epididymis-specific protein 1
    Short name:
    He1
    Niemann-Pick disease type C2 protein
    Gene namesi
    Name:NPC2
    Synonyms:HE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:14537. NPC2.

    Subcellular locationi

    Secreted 1 Publication. Endoplasmic reticulum 1 Publication. Lysosome 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. lysosome Source: HGNC

    Keywords - Cellular componenti

    Endoplasmic reticulum, Lysosome, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Niemann-Pick disease C2 (NPC2) [MIM:607625]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301V → M in NPC2. 1 Publication
    Corresponds to variant rs151220873 [ dbSNP | Ensembl ].
    VAR_043303
    Natural varianti39 – 391V → M in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes. 1 Publication
    VAR_015848
    Natural varianti47 – 471C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043304
    Natural varianti67 – 671S → P in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    Corresponds to variant rs11694 [ dbSNP | Ensembl ].
    VAR_015849
    Natural varianti93 – 931C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043305
    Natural varianti99 – 991C → R in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043306
    Natural varianti120 – 1201P → S in NPC2. 1 Publication
    VAR_043307

    Keywords - Diseasei

    Disease mutation, Niemann-Pick disease

    Organism-specific databases

    MIMi607625. phenotype.
    Orphaneti216986. Niemann-Pick disease type C, adult neurologic onset.
    216981. Niemann-Pick disease type C, juvenile neurologic onset.
    216978. Niemann-Pick disease type C, late infantile neurologic onset.
    216975. Niemann-Pick disease type C, severe early infantile neurologic onset.
    216972. Niemann-Pick disease type C, severe perinatal form.
    PharmGKBiPA31700.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 19191 PublicationAdd
    BLAST
    Chaini20 – 151132Epididymal secretory protein E1PRO_0000019854Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi27 ↔ 140By similarity
    Disulfide bondi42 ↔ 47By similarity
    Glycosylationi58 – 581N-linked (GlcNAc...)1 Publication
    Disulfide bondi93 ↔ 99By similarity
    Modified residuei116 – 1161N6-acetyllysineBy similarity
    Glycosylationi135 – 1351N-linked (GlcNAc...)2 Publications

    Keywords - PTMi

    Acetylation, Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP61916.
    PaxDbiP61916.
    PeptideAtlasiP61916.
    PRIDEiP61916.

    PTM databases

    PhosphoSiteiP61916.

    Miscellaneous databases

    PMAP-CutDBP61916.

    Expressioni

    Tissue specificityi

    Epididymis.1 Publication

    Inductioni

    Down-regulated in response to enterovirus 71 (EV71) infection.1 Publication

    Gene expression databases

    ArrayExpressiP61916.
    BgeeiP61916.
    CleanExiHS_NPC2.
    GenevestigatoriP61916.

    Organism-specific databases

    HPAiHPA000835.

    Interactioni

    Subunit structurei

    Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking. Interacts with DHDDS. Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner By similarity. Interacts with NEDD4L (via C2 domain) By similarity. Interacts with NPC1L1.By similarity4 Publications

    Protein-protein interaction databases

    BioGridi115828. 12 interactions.
    IntActiP61916. 1 interaction.
    STRINGi9606.ENSP00000238633.

    Structurei

    3D structure databases

    ProteinModelPortaliP61916.
    SMRiP61916. Positions 20-147.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NPC2 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG281614.
    HOGENOMiHOG000007181.
    HOVERGENiHBG018181.
    InParanoidiP61916.
    KOiK13443.
    PhylomeDBiP61916.
    TreeFamiTF317963.

    Family and domain databases

    Gene3Di2.60.40.770. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR003172. ML_dom.
    [Graphical view]
    PfamiPF02221. E1_DerP2_DerF2. 1 hit.
    [Graphical view]
    SMARTiSM00737. ML. 1 hit.
    [Graphical view]
    SUPFAMiSSF81296. SSF81296. 1 hit.

    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: P61916-1) [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

    MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS    50
    KGQSYSVNVT FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP 100
    IQKDKTYSYL NKLPVKSEYP SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH 150
    L 151
    Length:151
    Mass (Da):16,570
    Last modified:June 7, 2004 - v1
    Checksum:iB141B611805DC910
    GO
    Isoform 2 (identifier: P61916-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         122-147: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:125
    Mass (Da):13,416
    Checksum:iE94FCACA6B6691FE
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301V → M in NPC2. 1 Publication
    Corresponds to variant rs151220873 [ dbSNP | Ensembl ].
    VAR_043303
    Natural varianti39 – 391V → M in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes. 1 Publication
    VAR_015848
    Natural varianti47 – 471C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043304
    Natural varianti67 – 671S → P in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    Corresponds to variant rs11694 [ dbSNP | Ensembl ].
    VAR_015849
    Natural varianti86 – 861P → L.
    Corresponds to variant rs4688 [ dbSNP | Ensembl ].
    VAR_011899
    Natural varianti93 – 931C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043305
    Natural varianti99 – 991C → R in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 Publication
    VAR_043306
    Natural varianti120 – 1201P → S in NPC2. 1 Publication
    VAR_043307

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei122 – 14726Missing in isoform 2. 1 PublicationVSP_056459Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X67698 mRNA. Translation: CAA47928.1.
    AK298975 mRNA. Translation: BAG61069.1.
    AC005479 Genomic DNA. No translation available.
    BC002532 mRNA. Translation: AAH02532.1.
    CCDSiCCDS32121.1.
    PIRiI38365.
    RefSeqiNP_006423.1. NM_006432.3.
    UniGeneiHs.433222.

    Genome annotation databases

    EnsembliENST00000541064; ENSP00000442488; ENSG00000119655.
    ENST00000555619; ENSP00000451112; ENSG00000119655.
    GeneIDi10577.
    KEGGihsa:10577.
    UCSCiuc001xpy.3. human.

    Polymorphism databases

    DMDMi48429027.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Niemann-Pick type C disease gene variation database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X67698 mRNA. Translation: CAA47928.1 .
    AK298975 mRNA. Translation: BAG61069.1 .
    AC005479 Genomic DNA. No translation available.
    BC002532 mRNA. Translation: AAH02532.1 .
    CCDSi CCDS32121.1.
    PIRi I38365.
    RefSeqi NP_006423.1. NM_006432.3.
    UniGenei Hs.433222.

    3D structure databases

    ProteinModelPortali P61916.
    SMRi P61916. Positions 20-147.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115828. 12 interactions.
    IntActi P61916. 1 interaction.
    STRINGi 9606.ENSP00000238633.

    Protein family/group databases

    TCDBi 2.A.6.6.1. the resistance-nodulation-cell division (rnd) superfamily.

    PTM databases

    PhosphoSitei P61916.

    Polymorphism databases

    DMDMi 48429027.

    Proteomic databases

    MaxQBi P61916.
    PaxDbi P61916.
    PeptideAtlasi P61916.
    PRIDEi P61916.

    Protocols and materials databases

    DNASUi 10577.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000541064 ; ENSP00000442488 ; ENSG00000119655 .
    ENST00000555619 ; ENSP00000451112 ; ENSG00000119655 .
    GeneIDi 10577.
    KEGGi hsa:10577.
    UCSCi uc001xpy.3. human.

    Organism-specific databases

    CTDi 10577.
    GeneCardsi GC14M074943.
    GeneReviewsi NPC2.
    HGNCi HGNC:14537. NPC2.
    HPAi HPA000835.
    MIMi 601015. gene.
    607625. phenotype.
    neXtProti NX_P61916.
    Orphaneti 216986. Niemann-Pick disease type C, adult neurologic onset.
    216981. Niemann-Pick disease type C, juvenile neurologic onset.
    216978. Niemann-Pick disease type C, late infantile neurologic onset.
    216975. Niemann-Pick disease type C, severe early infantile neurologic onset.
    216972. Niemann-Pick disease type C, severe perinatal form.
    PharmGKBi PA31700.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG281614.
    HOGENOMi HOG000007181.
    HOVERGENi HBG018181.
    InParanoidi P61916.
    KOi K13443.
    PhylomeDBi P61916.
    TreeFami TF317963.

    Miscellaneous databases

    ChiTaRSi NPC2. human.
    GenomeRNAii 10577.
    NextBioi 40145.
    PMAP-CutDB P61916.
    PROi P61916.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P61916.
    Bgeei P61916.
    CleanExi HS_NPC2.
    Genevestigatori P61916.

    Family and domain databases

    Gene3Di 2.60.40.770. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR003172. ML_dom.
    [Graphical view ]
    Pfami PF02221. E1_DerP2_DerF2. 1 hit.
    [Graphical view ]
    SMARTi SM00737. ML. 1 hit.
    [Graphical view ]
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs."
      Krull N., Ivell R., Osterhoff C., Kirchhoff C.
      Mol. Reprod. Dev. 34:16-24(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Epididymis.
    2. "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 2).
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 1).
      Tissue: Ovary.
    5. "NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols."
      Liou H.L., Dixit S.S., Xu S., Tint G.S., Stock A.M., Lobel P.
      J. Biol. Chem. 281:36710-36723(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF N-TERMINUS, GLYCOSYLATION AT ASN-58 AND ASN-135, FUNCTION.
      Tissue: Brain.
    6. "Identification of HE1 as the second gene of Niemann-Pick C disease."
      Naureckiene S., Sleat D.E., Lackland H., Fensom A., Vanier M.T., Wattiaux R., Jadot M., Lobel P.
      Science 290:2298-2301(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN NPC2.
    7. "In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system."
      Kharel Y., Takahashi S., Yamashita S., Koyama T.
      Biochem. Biophys. Res. Commun. 318:198-203(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DHDDS.
    8. "Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection."
      Leong W.F., Chow V.T.
      Cell. Microbiol. 8:565-580(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION, IDENTIFICATION BY MASS SPECTROMETRY.
    9. "Regulation of sterol transport between membranes and NPC2."
      Xu Z., Farver W., Kodukula S., Storch J.
      Biochemistry 47:11134-11143(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. "NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."
      Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L.
      Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. Cited for: INTERACTION WITH NEDD4L, TISSUE SPECIFICITY.
    12. "Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking."
      Harrison K.D., Miao R.Q., Fernandez-Hernando C., Suarez Y., Davalos A., Sessa W.C.
      Cell Metab. 10:208-218(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH NUS1.
    13. "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-135.
      Tissue: Liver.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein."
      Yamanashi Y., Takada T., Shoda J., Suzuki H.
      Hepatology 55:953-964(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NPC1L1.
    16. "NPC1/NPC2 function as a tag team duo to mobilize cholesterol."
      Subramanian K., Balch W.E.
      Proc. Natl. Acad. Sci. U.S.A. 105:15223-15224(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION.
    17. "Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking."
      Storch J., Xu Z.
      Biochim. Biophys. Acta 1791:671-678(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION.
    18. "Transfer of cholesterol by the NPC team."
      Vance J.E.
      Cell Metab. 12:105-106(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION.
    19. "Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin."
      Vance J.E., Peake K.B.
      Curr. Opin. Lipidol. 22:204-209(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION.
    20. "Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group."
      Millat G., Chikh K., Naureckiene S., Sleat D.E., Fensom A.H., Higaki K., Elleder M., Lobel P., Vanier M.T.
      Am. J. Hum. Genet. 69:1013-1021(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NPC2 PRO-67.
    21. "Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2."
      Klunemann H.H., Elleder M., Kaminski W.E., Snow K., Peyser J.M., O'Brien J.F., Munoz D., Schmitz G., Klein H.E., Pendlebury W.W.
      Ann. Neurol. 52:743-749(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NPC2 MET-39.
    22. "Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1."
      Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K.
      Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NPC2 MET-30; PHE-47 AND PHE-93.
    23. "Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations."
      Chikh K., Rodriguez C., Vey S., Vanier M.T., Millat G.
      Hum. Mutat. 26:20-28(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NPC2 ARG-99, CHARACTERIZATION OF VARIANTS NPC2 METH-39; PHE-47; PRO-67; PHE-93 AND ARG-99.
    24. "Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families."
      Millat G., Baielo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T.
      Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NPC2 SER-120.

    Entry informationi

    Entry nameiNPC2_HUMAN
    AccessioniPrimary (citable) accession number: P61916
    Secondary accession number(s): B4DQV7, Q15668, Q29413
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: June 7, 2004
    Last modified: October 1, 2014
    This is version 110 of the entry and version 1 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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