Gene/Proteome Database (LMPD)

LMPD ID
LMP001410
Gene ID
18145
Species
Mus musculus (Mouse)
Gene Name
Niemann-Pick type C1
Gene Symbol
Npc1
Synonyms
A430089E03Rik; C85354; D18Ertd139e; D18Ertd723e; lcsd; nmf164; spm
Alternate Names
Niemann-Pick C1 protein; sphingomyelinosis; Niemann Pick type C1
Chromosome
18
Map Location
18 A1|18 6.15 cM

Proteins

Niemann-Pick C1 protein precursor
Refseq ID NP_032746
Protein GI 89242146
UniProt ID O35604
mRNA ID NM_008720
Length 1277
RefSeq Status VALIDATED
MGAHHPALGLLLLLLCPAQVFSQSCVWYGECGIATGDKRYNCKYSGPPKPLPKDGYDLVQELCPGLFFDNVSLCCDIQQLQTLKSNLQLPLQFLSRCPSCFYNLMTLFCELTCSPHQSQFLNVTATEDYFDPKTQENKTNVKELEYFVGQSFANAMYNACRDVEAPSSNEKALGLLCGRDARACNATNWIEYMFNKDNGQAPFTIIPVFSDLSILGMEPMRNATKGCNESVDEVTGPCSCQDCSIVCGPKPQPPPPPMPWRIWGLDAMYVIMWVTYVAFLFVFFGALLAVWCHRRRYFVSEYTPIDSNIAFSVNSSDKGEASCCDPLGAAFDDCLRRMFTKWGAFCVRNPTCIIFFSLAFITVCSSGLVFVQVTTNPVELWSAPHSQARLEKEYFDKHFGPFFRTEQLIIQAPNTSVHIYEPYPAGADVPFGPPLNKEILHQVLDLQIAIESITASYNNETVTLQDICVAPLSPYNKNCTIMSVLNYFQNSHAVLDSQVGDDFYIYADYHTHFLYCVRAPASLNDTSLLHGPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTERLQRAWAWEKEFISFVKNYKNPNLTISFTAERSIEDELNRESNSDVFTVIISYVVMFLYISLALGHIQSCSRLLVDSKISLGIAGILIVLSSVACSLGIFSYMGMPLTLIVIEVIPFLVLAVGVDNIFILVQTYQRDERLQEETLDQQLGRILGEVAPTMFLSSFSETSAFFFGALSSMPAVHTFSLFAGMAVLIDFLLQITCFVSLLGLDIKRQEKNHLDILCCVRGADDGQGSHASESYLFRFFKNYFAPLLLKDWLRPIVVAVFVGVLSFSVAVVNKVDIGLDQSLSMPNDSYVIDYFKSLAQYLHSGPPVYFVLEEGYNYSSRKGQNMVCGGMGCDNDSLVQQIFNAAELDTYTRVGFAPSSWIDDYFDWVSPQSSCCRLYNVTHQFCNASVMDPTCVRCRPLTPEGKQRPQGKEFMKFLPMFLSDNPNPKCGKGGHAAYGSAVNIVGDDTYIGATYFMTYHTILKTSADYTDAMKKARLIASNITETMRSKGSDYRVFPYSVFYVFYEQYLTIIDDTIFNLSVSLGSIFLVTLVVLGCELWSAVIMCITIAMILVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTMSTKGSRVSRAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFEIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKRHTTYERYRGTERERLLNF
sig_peptide: 1..22 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2302 peptide sequence: MGAHHPALGLLLLLLCPAQVFS mat_peptide: 23..1277 product: Niemann-Pick C1 protein experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (O35604.2) calculated_mol_wt: 140602 peptide sequence: QSCVWYGECGIATGDKRYNCKYSGPPKPLPKDGYDLVQELCPGLFFDNVSLCCDIQQLQTLKSNLQLPLQFLSRCPSCFYNLMTLFCELTCSPHQSQFLNVTATEDYFDPKTQENKTNVKELEYFVGQSFANAMYNACRDVEAPSSNEKALGLLCGRDARACNATNWIEYMFNKDNGQAPFTIIPVFSDLSILGMEPMRNATKGCNESVDEVTGPCSCQDCSIVCGPKPQPPPPPMPWRIWGLDAMYVIMWVTYVAFLFVFFGALLAVWCHRRRYFVSEYTPIDSNIAFSVNSSDKGEASCCDPLGAAFDDCLRRMFTKWGAFCVRNPTCIIFFSLAFITVCSSGLVFVQVTTNPVELWSAPHSQARLEKEYFDKHFGPFFRTEQLIIQAPNTSVHIYEPYPAGADVPFGPPLNKEILHQVLDLQIAIESITASYNNETVTLQDICVAPLSPYNKNCTIMSVLNYFQNSHAVLDSQVGDDFYIYADYHTHFLYCVRAPASLNDTSLLHGPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTERLQRAWAWEKEFISFVKNYKNPNLTISFTAERSIEDELNRESNSDVFTVIISYVVMFLYISLALGHIQSCSRLLVDSKISLGIAGILIVLSSVACSLGIFSYMGMPLTLIVIEVIPFLVLAVGVDNIFILVQTYQRDERLQEETLDQQLGRILGEVAPTMFLSSFSETSAFFFGALSSMPAVHTFSLFAGMAVLIDFLLQITCFVSLLGLDIKRQEKNHLDILCCVRGADDGQGSHASESYLFRFFKNYFAPLLLKDWLRPIVVAVFVGVLSFSVAVVNKVDIGLDQSLSMPNDSYVIDYFKSLAQYLHSGPPVYFVLEEGYNYSSRKGQNMVCGGMGCDNDSLVQQIFNAAELDTYTRVGFAPSSWIDDYFDWVSPQSSCCRLYNVTHQFCNASVMDPTCVRCRPLTPEGKQRPQGKEFMKFLPMFLSDNPNPKCGKGGHAAYGSAVNIVGDDTYIGATYFMTYHTILKTSADYTDAMKKARLIASNITETMRSKGSDYRVFPYSVFYVFYEQYLTIIDDTIFNLSVSLGSIFLVTLVVLGCELWSAVIMCITIAMILVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTMSTKGSRVSRAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFEIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKRHTTYERYRGTERERLLNF

Gene Information

Entrez Gene ID
18145
Gene Name
Niemann-Pick type C1
Gene Symbol
Npc1
Species
Mus musculus

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 ISS:UniProtKB C endoplasmic reticulum
GO:0005768 IDA:MGI C endosome
GO:0005576 IDA:UniProtKB C extracellular region
GO:0070062 IEA:Ensembl C extracellular vesicular exosome
GO:0005794 IDA:MGI C Golgi apparatus
GO:0005887 ISS:UniProtKB C integral component of plasma membrane
GO:0005765 IEA:Ensembl C lysosomal membrane
GO:0005764 IDA:UniProtKB C lysosome
GO:0016020 IDA:MGI C membrane
GO:0045121 IDA:MGI C membrane raft
GO:0005635 ISS:UniProtKB C nuclear envelope
GO:0048471 ISS:UniProtKB C perinuclear region of cytoplasm
GO:0005886 IDA:MGI C plasma membrane
GO:0031982 IDA:MGI C vesicle
GO:0015485 ISS:UniProtKB F cholesterol binding
GO:0008158 IEA:InterPro F hedgehog receptor activity
GO:0007628 IGI:MGI P adult walking behavior
GO:0006914 ISO:MGI P autophagy
GO:0008206 ISS:UniProtKB P bile acid metabolic process
GO:0071404 IDA:MGI P cellular response to low-density lipoprotein particle stimulus
GO:0071383 IDA:MGI P cellular response to steroid hormone stimulus
GO:0033344 IMP:MGI P cholesterol efflux
GO:0042632 ISS:UniProtKB P cholesterol homeostasis
GO:0008203 IEA:UniProtKB-KW P cholesterol metabolic process
GO:0030301 ISS:UniProtKB P cholesterol transport
GO:0006897 IMP:MGI P endocytosis
GO:0090150 IEA:Ensembl P establishment of protein localization to membrane
GO:0007041 ISS:UniProtKB P lysosomal transport
GO:0031579 IEA:Ensembl P membrane raft organization
GO:0060548 IEA:Ensembl P negative regulation of cell death
GO:0016242 IMP:MGI P negative regulation of macroautophagy
GO:0006486 IDA:UniProtKB P protein glycosylation
GO:0046686 IEA:Ensembl P response to cadmium ion
GO:0042493 IDA:MGI P response to drug

KEGG Pathway Links

KEGG Pathway ID Description
ko04142 Lysosome
mmu04142 Lysosome

Domain Information

InterPro Annotations

Accession Description
IPR004765 Niemann-Pick C type protein
IPR003392 Patched
IPR000731 Sterol-sensing domain

UniProt Annotations

Entry Information

Gene Name
Niemann-Pick type C1
Protein Entry
NPC1_MOUSE
UniProt ID
O35604
Species
Mouse

Comments

Comment Type Description
Domain A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
Function Intracellular cholesterol transporter which acts in concert with NPC2 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. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.
Induction Activated by the drugs progesterone and U-18666A which block cholesterol transport out of lysosomes and by the lysosomotropic agent NAH4CL.
Similarity Belongs to the patched family. {ECO:0000305}.
Similarity Contains 1 SSD (sterol-sensing) domain. {ECO:0000255|PROSITE-ProRule:PRU00199}.
Subcellular Location Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
Subunit Interacts with TMEM97 (By similarity). Interacts (via the second lumenal domain) with NPC2 in a cholestrol-dependent manner. {ECO:0000250, ECO:0000269|PubMed:22065762}.
Tissue Specificity Expressed predominantly in perisynaptic astrocytic glial processes. Also expressed in heart, spleen, lung, liver, skeletal muscle, kidney, testis.

Identical and Related Proteins

Unique RefSeq proteins for LMP001410 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
89242146 RefSeq NP_032746 1277 Niemann-Pick C1 protein precursor

Identical Sequences to LMP001410 proteins

Reference Database Accession Length Protein Name
GI:89242146 GenBank EDL01560.1 1277 Niemann Pick type C1 [Mus musculus]
GI:89242146 SwissProt O35604.2 1277 RecName: Full=Niemann-Pick C1 protein; Flags: Precursor [Mus musculus]

Related Sequences to LMP001410 proteins

Reference Database Accession Length Protein Name
GI:89242146 GenBank AAB63372.1 1278 NPC1 [Mus musculus]
GI:89242146 GenBank AAN25754.1 1319 Sequence 4 from patent US 6426198
GI:89242146 GenBank AAH52437.1 1277 Niemann Pick type C1 [Mus musculus]
GI:89242146 GenBank AAH54539.1 1277 Niemann Pick type C1 [Mus musculus]
GI:89242146 GenBank ABH83291.1 1319 Sequence 4 from patent US 7045675
GI:89242146 RefSeq XP_006525780.1 1276 PREDICTED: Niemann-Pick C1 protein isoform X1 [Mus musculus]