This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012],
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Function:
Function:Plays an important role in the early steps of the endoplasmic reticulum-associated degradation (ERAD) pathway. Involved in ITPR1 degradation by the ERAD pathway.,similarity:Belongs to the band 7/mec-2 family.,subcellular location:Associated with lipid raft-like domains of the endoplasmic reticulum membrane.,subunit:Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination.,tissue specificity:Ubiquitous.,
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Cellular Localization:
Endoplasmic reticulum membrane ; Single-pass type II membrane protein . Associated with lipid raft-like domains of the endoplasmic reticulum membrane.