Gene/Proteome Database (LMPD)
LMPD ID
LMP006771
Gene ID
Species
Homo sapiens (Human)
Gene Name
Niemann-Pick disease, type C2
Gene Symbol
Synonyms
EDDM1; HE1
Alternate Names
epididymal secretory protein E1; epididymal protein 1; tissue-specific secretory protein; human epididymis-specific protein 1; Niemann-Pick disease type C2 protein
Chromosome
14
Map Location
14q24.3
Summary
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| epididymal secretory protein E1 precursor | |
|---|---|
| Refseq ID | NP_006423 |
| Protein GI | 5453678 |
| UniProt ID | P61916 |
| mRNA ID | NM_006432 |
| Length | 151 |
| RefSeq Status | REVIEWED |
| MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL | |
| sig_peptide: 1..19 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2009 peptide sequence: MRFLAATFLLLALSTAAQA mat_peptide: 20..151 product: epididymal secretory protein E1 calculated_mol_wt: 14579 peptide sequence: EPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IEA:UniProtKB-KW | C | endoplasmic reticulum |
| GO:0070062 | IDA:UniProtKB | C | extracellular vesicular exosome |
| GO:0005764 | IDA:HGNC | C | lysosome |
| GO:0015485 | IDA:UniProtKB | F | cholesterol binding |
| GO:0019899 | IPI:UniProtKB | F | enzyme binding |
| GO:0033344 | IDA:BHF-UCL | P | cholesterol efflux |
| GO:0042632 | IDA:UniProtKB | P | cholesterol homeostasis |
| GO:0008203 | IEA:UniProtKB-KW | P | cholesterol metabolic process |
| GO:0030301 | IDA:UniProtKB | P | cholesterol transport |
| GO:0046836 | TAS:HGNC | P | glycolipid transport |
| GO:0032367 | IDA:UniProtKB | P | intracellular cholesterol transport |
| GO:0032366 | IDA:HGNC | P | intracellular sterol transport |
| GO:0015914 | TAS:HGNC | P | phospholipid transport |
| GO:0019747 | TAS:UniProtKB | P | regulation of isoprenoid metabolic process |
| GO:0009615 | IEP:UniProtKB | P | response to virus |
KEGG Pathway Links
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61916-1; Sequence=Displayed; Name=2; IsoId=P61916-2; Sequence=VSP_056459; Note=No experimental confirmation available.; |
| Disease | Niemann-Pick disease C2 (NPC2) [MIM |
| Function | 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. {ECO |
| Induction | Down-regulated in response to enterovirus 71 (EV71) infection. |
| Similarity | Belongs to the NPC2 family. |
| Subcellular Location | Secreted . Endoplasmic reticulum . Lysosome . |
| Subunit | 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. {ECO |
| Tissue Specificity | Epididymis. |
| Web Resource | Name=Niemann-Pick type C disease gene variation database; URL="http://npc.fzk.de"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP006771 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 5453678 | RefSeq | NP_006423 | 151 | epididymal secretory protein E1 precursor |
Identical Sequences to LMP006771 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:5453678 | GenBank | AHD75908.1 | 151 | Sequence 18291 from patent US 8586006 |
| GI:5453678 | GenBank | AIC50666.1 | 151 | NPC2, partial [synthetic construct] |
| GI:5453678 | RefSeq | XP_005561827.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X2 [Macaca fascicularis] |
| GI:5453678 | RefSeq | XP_007985463.1 | 151 | PREDICTED: epididymal secretory protein E1 [Chlorocebus sabaeus] |
| GI:5453678 | RefSeq | XP_009210222.1 | 151 | PREDICTED: epididymal secretory protein E1 [Papio anubis] |
| GI:5453678 | RefSeq | XP_009426323.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X1 [Pan troglodytes] |
Related Sequences to LMP006771 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:5453678 | DBBJ | BAD96194.1 | 151 | Niemann-Pick disease, type C2 precursor variant, partial [Homo sapiens] |
| GI:5453678 | GenBank | ADT49780.1 | 199 | Sequence 1797 from patent US 7842467 |
| GI:5453678 | RefSeq | XP_008976150.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X1 [Pan paniscus] |
| GI:5453678 | RefSeq | XP_008976151.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X1 [Pan paniscus] |
| GI:5453678 | RefSeq | XP_009247582.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X2 [Pongo abelii] |
| GI:5453678 | RefSeq | XP_010380940.1 | 151 | PREDICTED: epididymal secretory protein E1 isoform X2 [Rhinopithecus roxellana] |