receptor expression-enhancing protein 1 (REEP1, C2orf23)

Function

• required for endoplasmic reticulum (ER) network formation, shaping & remodeling
• links ER tubules to the cytoskeleton
• interacts with odorant receptor proteins & may enhance their cell surface expression
• interacts with SPAST & ATL1
  • preferentially interacts with SPAST isoform 1
• interacts (via C-terminus) with microtubules

Structure

belongs to the DP1 family

Compartment

• membrane, mitochondrial membrane, endoplasmic reticulum
• multi-pass membrane protein

Alternative splicing

named isoforms=4

Pathology

• defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31

Laboratory

• NIPA1 + REEP1 gene mutation

More general terms

• receptor expression-enhancing protein (REEP)
• transmembrane 2 protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=65055
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:65055
• OMIM: https://mirror.omim.org/entry/609139
• OMIM: https://mirror.omim.org/entry/610250
• UniProt: http://www.uniprot.org/uniprot/Q9H902.html