Details for: Npc1

Gene ID: 18145

Symbol: Npc1

Ensembl ID: ENSMUSG00000024413

Description: NPC intracellular cholesterol transporter 1

Associated with

Other Information

Genular Protein ID: 17789713

Symbol: NPC1_MOUSE

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9211850

Title: Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

PubMed ID: 9211850

DOI: 10.1126/science.277.5323.232

PubMed ID: 19468303

Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.

PubMed ID: 19468303

DOI: 10.1371/journal.pbio.1000112

PubMed ID: 21183079

Title: A tissue-specific atlas of mouse protein phosphorylation and expression.

PubMed ID: 21183079

DOI: 10.1016/j.cell.2010.12.001

PubMed ID: 16340014

Title: The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals.

PubMed ID: 16340014

DOI: 10.1194/jlr.m500482-jlr200

PubMed ID: 21412152

Title: Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.

PubMed ID: 21412152

DOI: 10.1097/mol.0b013e3283453e69

PubMed ID: 22065762

Title: Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.

PubMed ID: 22065762

DOI: 10.1073/pnas.1110439108

PubMed ID: 21896731

Title: Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.

PubMed ID: 21896731

DOI: 10.1073/pnas.1112751108

PubMed ID: 22048958

Title: A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

PubMed ID: 22048958

DOI: 10.1093/hmg/ddr505

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

DOI: 10.1073/pnas.1611956113

Sequence Information:

  • Length: 1277
  • Mass: 142885
  • Checksum: 3B42230AAC86764E
  • Sequence:
  • MGAHHPALGL LLLLLCPAQV FSQSCVWYGE CGIATGDKRY NCKYSGPPKP LPKDGYDLVQ 
    ELCPGLFFDN VSLCCDIQQL QTLKSNLQLP LQFLSRCPSC FYNLMTLFCE LTCSPHQSQF 
    LNVTATEDYF DPKTQENKTN VKELEYFVGQ SFANAMYNAC RDVEAPSSNE KALGLLCGRD 
    ARACNATNWI EYMFNKDNGQ APFTIIPVFS DLSILGMEPM RNATKGCNES VDEVTGPCSC 
    QDCSIVCGPK PQPPPPPMPW RIWGLDAMYV IMWVTYVAFL FVFFGALLAV WCHRRRYFVS 
    EYTPIDSNIA FSVNSSDKGE ASCCDPLGAA FDDCLRRMFT KWGAFCVRNP TCIIFFSLAF 
    ITVCSSGLVF VQVTTNPVEL WSAPHSQARL EKEYFDKHFG PFFRTEQLII QAPNTSVHIY 
    EPYPAGADVP FGPPLNKEIL HQVLDLQIAI ESITASYNNE TVTLQDICVA PLSPYNKNCT 
    IMSVLNYFQN SHAVLDSQVG DDFYIYADYH THFLYCVRAP ASLNDTSLLH GPCLGTFGGP 
    VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTERLQRA WAWEKEFISF VKNYKNPNLT 
    ISFTAERSIE DELNRESNSD VFTVIISYVV MFLYISLALG HIQSCSRLLV DSKISLGIAG 
    ILIVLSSVAC SLGIFSYMGM PLTLIVIEVI PFLVLAVGVD NIFILVQTYQ RDERLQEETL 
    DQQLGRILGE VAPTMFLSSF SETSAFFFGA LSSMPAVHTF SLFAGMAVLI DFLLQITCFV 
    SLLGLDIKRQ EKNHLDILCC VRGADDGQGS HASESYLFRF FKNYFAPLLL KDWLRPIVVA 
    VFVGVLSFSV AVVNKVDIGL DQSLSMPNDS YVIDYFKSLA QYLHSGPPVY FVLEEGYNYS 
    SRKGQNMVCG GMGCDNDSLV QQIFNAAELD TYTRVGFAPS SWIDDYFDWV SPQSSCCRLY 
    NVTHQFCNAS VMDPTCVRCR PLTPEGKQRP QGKEFMKFLP MFLSDNPNPK CGKGGHAAYG 
    SAVNIVGDDT YIGATYFMTY HTILKTSADY TDAMKKARLI ASNITETMRS KGSDYRVFPY 
    SVFYVFYEQY LTIIDDTIFN LSVSLGSIFL VTLVVLGCEL WSAVIMCITI AMILVNMFGV 
    MWLWGISLNA VSLVNLVMSC GISVEFCSHI TRAFTMSTKG SRVSRAEEAL AHMGSSVFSG 
    ITLTKFGGIV VLAFAKSQIF EIFYFRMYLA MVLLGATHGL IFLPVLLSYI GPSVNKAKRH 
    TTYERYRGTE RERLLNF

Genular Protein ID: 990450304

Symbol: Q7TMD4_MOUSE

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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

Sequence Information:

  • Length: 1277
  • Mass: 142884
  • Checksum: 3B42230AAC8E564E
  • Sequence:
  • MGAHHPALGL LLLLLCPAQV FSQSCVWYGE CGIATGDKRY NCKYSGPPKP LPKDGYDLVQ 
    ELCPGLFFDN VSLCCDIQQL QTLKSNLQLP LQFLSRCPSC FYNLMTLFCE LTCSPHQSQF 
    LNVTATEDYF DPKTQENKTN VKELEYFVGQ SFANAMYNAC RDVEAPSSNE KALGLLCGRD 
    ARACNATNWI EYMFNKDNGQ APFTIIPVFS DLSILGMEPM RNATKGCNES VDEVTGPCSC 
    QDCSIVCGPK PQPPPPPMPW RIWGLDAMYV IMWVTYVAFL FVFFGALLAV WCHRRRYFVS 
    EYTPIDSNIA FSVNSSDKGE ASCCDPLGAA FDDCLRRMFT KWGAFCVRNP TCIIFFSLAF 
    ITVCSSGLVF VQVTTNPVEL WSAPHSQARL EKEYFDKHFG PFFRTEQLII QAPNTSVHIY 
    EPYPAGADVP FGPPLNKEIL HQVLDLQIAI ESITASYNNE TVTLQDICVA PLSPYNKNCT 
    IMSVLNYFQN SHAVLDSQVG DDFYIYADYH THFLYCVRAP ASLNDTSLLH GPCLGTFGGP 
    VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTERLQRA WAWEKEFISF VKNYKNPNLT 
    ISFTAERSIE DELNRESNSD VFTVIISYVV MFLYISLALG HIQSCSRLLV DSKISLGIAG 
    ILIVLSSVAC SLGIFSYMGM PLTLIVIEVI PFLVLAVGVD NIFILVQTYQ RDERLQEETL 
    DQQLGRILGE VAPTMFLSSF SETSAFFFGA LSSMPAVHTF SLFAGMAVLI DFLLQITCFV 
    SLLGLDIKRQ EKNHLDILCC VRGADDGQGS HASESYLFRF FKNYFAPLLL KDWLRPIVVA 
    VFVGVLSFSV AVVNKVDIGL DQSLSMPNDS YVIDYFKSLA QYLHSGPPVY FVLEEGYNYS 
    SRKGQNMVCG GMGCDNDSLV QQIFNAAELD TYTRVGFAPS SWIDDYFDWV SPQSSCCRLY 
    NVTHQFCNAS VMDPTCVRCR PLTPEGKQRP QGKEFMKFLP MFLSDNPNPK CGKGGHAAYG 
    SAVNIVGDDT YIGATYFMTY HTILKTSADY TDAMKKARLI ASNITETMRS KGSDYRVFPY 
    SVFYVFYEQY LTIIDDTIFN LSVSLGSIFL VTLVVLGCEL WSAVIMCITI AMILVNMFGV 
    MWLWGISLNA VSLVNLVMSC GISVEFCSHI TRAFTMSTKG SRVSRAEEAL AHMGSSVFSG 
    ITLTKFGGIV VLAFAKSQIF EIFYFRMYLA MVLLGATHGL IFLPVLLSYI GPSVNKAKRH 
    TTYERYRGTE RKRLLNF

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.