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

More general terms

• secreted protein
• glycoprotein

Additional terms

• Niemann-Pick disease type C2

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10577
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10577
• OMIM: https://mirror.omim.org/entry/601015
• OMIM: https://mirror.omim.org/entry/607625
• UniProt: http://www.uniprot.org/uniprot/P61916.html