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epididymal secretory protein E1; human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein (NPC2, HE1)
Function:
- lysosomal cholesterol binding protein
- may be involved in regulation of the lipid composition of sperm membranes during the maturation in the epididymis (putative)
Structure: belongs to the NPC2 family
Compartment:
- lysosome
- secreted
Expression:
- expressed in epididymis
- highest mRNA expression in testis, kidney, liver
- lowest expression in lung, muscle
- down-regulated in response to enterovirus 71 infection
Pathology:
- mutations seen in Niemann-Pick disease type C2
Related
Niemann-Pick disease type C2
General
glycoprotein
secreted protein
Properties
SIZE: entity length = 151 aa
MW = 17 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-19}
cysteine residue {C27}
MODIFICATION: cysteine residue {C140}
cysteine residue {C42}
MODIFICATION: cysteine residue {C47}
cysteine residue {C47}
MODIFICATION: cysteine residue {C42}
N-glycosylation site {N58}
cysteine residue {C93}
MODIFICATION: cysteine residue {C99}
cysteine residue {C99}
MODIFICATION: cysteine residue {C93}
N-glycosylation site {N135}
cysteine residue {C140}
MODIFICATION: cysteine residue {C27}
Database Correlations
OMIM correlations
MORBIDMAP 601015
UniProt P61916
Pfam PF02221
Entrez Gene 10577
Kegg hsa:10577
References
- UniProt :accession P61916
- Niemann-Pick type C disease gene variation database
http://npc.fzk.de
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NPC2
- Naureckiene S et al.
Identification of HE1 as the second gene of Niemann-Pick C
disease.
Science 290:2298-2301, 2000
PMID: 11125141