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Gene Review:

REEP1 - receptor accessory protein 1

Homo sapiens

Synonyms: C2orf23, FLJ13110, HMN5B, Receptor expression-enhancing protein 1, SPG31

Olszewski, S. et al., Züchner, S. et al., Behrens, M. et al., Castermans, D. et al., Kupfer, S.R. et al., et al.

Züchner, Wang, Tran-Viet, Nance, Gaskell, Vance, Ashley-Koch, Pericak-Vance,

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Disease relevance of REEP1

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 [1].
We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease [1].

High impact information on REEP1

Selective serotonin reuptake inhibitors plus pindolol. The REEP [2].
For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1) [1].
Finally, expression analyses demonstrate RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of TAS2R gene expression [3].
Coexpression of RTP and REEP proteins changed the responses of some hTAS2Rs upon agonist stimulation, which is likely due to efficient cell surface localization as demonstrated by cell surface biotinylation experiments [3].
Furthermore, under basal secretory conditions REEP-1 and -2 were membrane-associated, but upon stimulation of exocytosis they were released into a cytosolic fraction [4].

Biological context of REEP1

By using a 125I-radiolabeled photoactivated cross-linking Rab3A effector domain peptide, we identified a cytosolic protein doublet (REEP-1 and REEP-2), which specifically interacted with the Rab3A effector domain [4].

Anatomical context of REEP1

Our results suggest that REEP-1 and -2 are part of the regulated exocytotic machinery, and their dissociation upon stimulation of hormone release (likely from a protein complex) may be essential to the mechanism that triggers regulated exocytosis in pancreatic beta-cells [4].
Receptor Expression-Enhancing Proteins (REEP) 3 is one of the six human homologs of yeast Yop1p, a probable regulator of cellular vesicle trafficking between the endoplasmatic reticulum and the Golgi network [5].

Associations of REEP1 with chemical compounds

Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors [6].

References

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Züchner, S., Wang, G., Tran-Viet, K.N., Nance, M.A., Gaskell, P.C., Vance, J.M., Ashley-Koch, A.E., Pericak-Vance, M.A. Am. J. Hum. Genet. (2006) [Pubmed]
Selective serotonin reuptake inhibitors plus pindolol. The REEP. Bordet, R., Thomas, P., Dupuis, B. Lancet (1997) [Pubmed]
Members of RTP and REEP gene families influence functional bitter taste receptor expression. Behrens, M., Bartelt, J., Reichling, C., Winnig, M., Kuhn, C., Meyerhof, W. J. Biol. Chem. (2006) [Pubmed]
Rab3A effector domain peptides induce insulin exocytosis via a specific interaction with a cytosolic protein doublet. Olszewski, S., Deeney, J.T., Schuppin, G.T., Williams, K.P., Corkey, B.E., Rhodes, C.J. J. Biol. Chem. (1994) [Pubmed]
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Castermans, D., Vermeesch, J.R., Fryns, J.P., Steyaert, J.G., Van de Ven, W.J., Creemers, J.W., Devriendt, K. Eur. J. Hum. Genet. (2007) [Pubmed]
Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors. Kupfer, S.R., Marschke, K.B., Wilson, E.M., French, F.S. J. Biol. Chem. (1993) [Pubmed]

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REEP1	Bos taurus
LOC613003	Canis lupus familiaris
LOC799901	Danio rerio
REEP1	Gallus gallus
Reep1	Mus musculus
REEP1	Pan troglodytes
Reep1	Rattus norvegicus
reep1	Xenopus (Silurana) tropicalis

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