LMPD Database

LMP006771

Record overview

LMPD ID	LMP006771
Gene ID	10577
Species	Homo sapiens (Human)
Gene Name	Niemann-Pick disease, type C2
Gene Symbol	NPC2
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	View orthologs and multiple alignments for NPC2

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

`MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCP IQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL`

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: 
EPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEY
PSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL