Details for: NPC2
Associated with
Other Information
Genular Protein ID: 3510106812
Symbol: NPC2_HUMAN
Name: Epididymal secretory protein E1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8418812
Title: Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs.
PubMed ID: 8418812
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 12508121
Title: The DNA sequence and analysis of human chromosome 14.
PubMed ID: 12508121
DOI: 10.1038/nature01348
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17018531
Title: NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols.
PubMed ID: 17018531
PubMed ID: 11125141
Title: Identification of HE1 as the second gene of Niemann-Pick C disease.
PubMed ID: 11125141
PubMed ID: 15110773
Title: In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system.
PubMed ID: 15110773
PubMed ID: 16548883
Title: Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.
PubMed ID: 16548883
PubMed ID: 18823126
Title: Regulation of sterol transport between membranes and NPC2.
PubMed ID: 18823126
DOI: 10.1021/bi801328u
PubMed ID: 18772377
Title: NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.
PubMed ID: 18772377
PubMed ID: 19664597
Title: Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L.
PubMed ID: 19664597
PubMed ID: 19723497
Title: Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking.
PubMed ID: 19723497
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21315718
Title: NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport.
PubMed ID: 21315718
PubMed ID: 22095670
Title: Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein.
PubMed ID: 22095670
DOI: 10.1002/hep.24772
PubMed ID: 18832164
Title: NPC1/NPC2 function as a tag team duo to mobilize cholesterol.
PubMed ID: 18832164
PubMed ID: 19232397
Title: Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.
PubMed ID: 19232397
PubMed ID: 20674853
PubMed ID: 21412152
Title: Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.
PubMed ID: 21412152
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 27238017
Title: Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
PubMed ID: 27238017
PubMed ID: 29580834
Title: Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts.
PubMed ID: 29580834
PubMed ID: 27551080
Title: Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.
PubMed ID: 27551080
PubMed ID: 11567215
Title: Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
PubMed ID: 11567215
DOI: 10.1086/324068
PubMed ID: 12447927
Title: Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.
PubMed ID: 12447927
DOI: 10.1002/ana.10366
PubMed ID: 12955717
Title: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
PubMed ID: 12955717
DOI: 10.1002/humu.10255
PubMed ID: 15937921
Title: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
PubMed ID: 15937921
DOI: 10.1002/humu.20173
PubMed ID: 16126423
Title: 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.
PubMed ID: 16126423
Sequence Information:
- Length: 151
- Mass: 16570
- Checksum: B141B611805DC910
- Sequence:
MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH L
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.