REEP1

Summary

Gene Symbol: REEP1
Description: receptor accessory protein 1
Alias: C2orf23, HMN5B, SPG31, Yip2a, receptor expression-enhancing protein 1, spastic paraplegia 31 protein
Species: human
Products:     REEP1

Top Publications

  1. Beetz C, Schule R, Deconinck T, Tran Viet K, Zhu H, Kremer B, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008;131:1078-86 pubmed publisher
    Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31...
  2. Zuchner S, Wang G, Tran Viet K, Nance M, Gaskell P, Vance J, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006;79:365-9 pubmed
    ..For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 ..
  3. Björk S, Hurt C, Ho V, Angelotti T. REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. PLoS ONE. 2013;8:e76366 pubmed publisher
    ..Most importantly, expression of a mutant REEP1 allele (hereditary spastic paraplegia SPG31) lacking the carboxyl terminus led to loss of this interaction...
  4. Kumar K, Blair N, Vandebona H, Liang C, Ng K, Sharpe D, et al. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol. 2013;260:2516-22 pubmed publisher
    ..Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations)...
  5. Loureiro J, Brandão E, Ruano L, Brandão A, Lopes A, Thieleke Matos C, et al. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. JAMA Neurol. 2013;70:481-7 pubmed publisher
    ..Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to be the cause in half of the autosomal dominant HSPs (AD-HSPs)...
  6. Citrigno L, Magariello A, Pugliese P, Di Palma G, Conforti F, Petrone A, et al. Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. Acta Neurol Belg. 2018;118:643-646 pubmed publisher
    ..out a screening of KIF5A gene in 50 subjects affected by HSP negative to diagnostic test for SPG4, ATL1 and REEP1. We identified a novel variation p...
  7. Duz M, Dasdemir S, Kalayci Yigin A, Akalin M, Seven M. Three novel mutations in 20 patients with hereditary spastic paraparesis. Neurol Sci. 2018;39:1551-1557 pubmed publisher
    ..Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis...
  8. Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain. 2012;135:2980-93 pubmed publisher
    ..We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous ..
  9. Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018;8: pubmed publisher
    ..We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients...

More Information

Publications44

  1. Zheng P, Chen Q, Tian X, Qian N, Chai P, Liu B, et al. DNA damage triggers tubular endoplasmic reticulum extension to promote apoptosis by facilitating ER-mitochondria signaling. Cell Res. 2018;28:833-854 pubmed publisher
    ..damage, and that this process is dependent on p53-mediated transcriptional activation of the ER-shaping proteins REEP1, REEP2 and EI24 (alias PIG8)...
  2. Montenegro G, Rebelo A, Connell J, Allison R, Babalini C, D Aloia M, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest. 2012;122:538-44 pubmed publisher
    ..genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and ..
  3. Ulengin I, Park J, Lee T. ER network formation and membrane fusion by atlastin1/SPG3A disease variants. Mol Biol Cell. 2015;26:1616-28 pubmed publisher
    ..The same variants were also capable of co-redistributing ER-localized REEP1, a recently identified function of atlastins that requires its catalytic activity...
  4. Lavie J, Serrat R, Bellance N, Courtand G, Dupuy J, Tesson C, et al. Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. Hum Mol Genet. 2017;26:674-685 pubmed publisher
    Hereditary spastic paraplegia, SPG31, is a rare neurological disorder caused by mutations in REEP1 gene encoding the microtubule-interacting protein, REEP1...
  5. Solowska J, Baas P. Hereditary spastic paraplegia SPG4: what is known and not known about the disease. Brain. 2015;138:2471-84 pubmed publisher
    ..not shared by M87, may insert into endoplasmic reticulum membrane, and together with reticulons, atlastin and REEP1, may play a role in the morphogenesis of this organelle...
  6. Voloshanenko O, Schwartz U, Kranz D, Rauscher B, Linnebacher M, Augustin I, et al. β-catenin-independent regulation of Wnt target genes by RoR2 and ATF2/ATF4 in colon cancer cells. Sci Rep. 2018;8:3178 pubmed publisher
    ..Independent experiments confirmed several target genes, including PLOD2, HADH, LCOR and REEP1 as non-canonical target genes in various colon cancer cells...
  7. Allison R, Edgar J, Pearson G, Rizo T, Newton T, Günther S, et al. Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. J Cell Biol. 2017;216:1337-1355 pubmed publisher
    ..abnormalities were seen in cellular models lacking the WASH complex component strumpellin or the ER morphogen REEP1. Mutations in spastin, strumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a ..
  8. Silipigni R, Cattaneo E, Baccarin M, Fumagalli M, Bedeschi M. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features. Eur J Med Genet. 2016;59:39-42 pubmed publisher
    ..The common deleted region involves several genes (CTNNA2, LRRTM1, REEP1), highly expressed in the nervous system...
  9. Shih Y, Hsueh Y. The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders. J Biomed Sci. 2018;25:2 pubmed publisher
    ..Valosin-containing protein (VCP), Atlastin-1 (ATL1), Spastin (SPAST), Reticulon 2 (RTN2), Receptor expression enhancing protein 1 (REEP1) and RAB10-suggesting a critical role of ER formation in neuronal activity and function...
  10. Polymeris A, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, et al. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. J Neurol. 2016;263:1604-11 pubmed publisher
    ..Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes ATL1, SPAST, REEP1, and CYP7B1...
  11. Park S, Zhu P, Parker R, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest. 2010;120:1097-110 pubmed publisher
    ..half of HSP cases result from autosomal dominant mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 (REEP1; SPG31), or spastin (SPG4)...
  12. Lim Y, Cho I, Schoel L, Cho G, Golden J. Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. Ann Neurol. 2015;78:679-96 pubmed publisher
    Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs)...
  13. Falk J, Rohde M, Bekhite M, Neugebauer S, Hemmerich P, Kiehntopf M, et al. Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. Hum Mutat. 2014;35:497-504 pubmed publisher
    ..Which of the many ER functions are pathologically relevant, however, remains to be determined. REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN)...
  14. Saito H, Kubota M, Roberts R, Chi Q, Matsunami H. RTP family members induce functional expression of mammalian odorant receptors. Cell. 2004;119:679-91 pubmed
    ..Similar although weaker effects were seen with a third protein, REEP1. These findings suggest that RTP1 and RTP2 in particular play significant roles in the translocation of ORs to the ..
  15. Behrens M, Bartelt J, Reichling C, Winnig M, Kuhn C, Meyerhof W. Members of RTP and REEP gene families influence functional bitter taste receptor expression. J Biol Chem. 2006;281:20650-9 pubmed
    ..Finally, expression analyses demonstrate RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of TAS2R gene expression. ..
  16. Liu S, Che F, Heng X, Li F, Huang S, Lu D, et al. Clinical and genetic study of a novel mutation in the REEP1 gene. Synapse. 2009;63:201-5 pubmed publisher
    ..A novel splice-site mutation (REEP1 c417+1g>a) was identified...
  17. Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, et al. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest. 2013;123:4273-82 pubmed publisher
    ..We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31...
  18. Elert Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, et al. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. J Neurol Sci. 2015;359:35-9 pubmed publisher
    ..Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (..
  19. Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, et al. Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. Parkinsonism Relat Disord. 2018;46:79-83 pubmed publisher
    ..of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy...
  20. Schlang K, Arning L, Epplen J, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 2008;9:71 pubmed publisher
    ..Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31...
  21. de Bot S, Veldink J, Vermeer S, Mensenkamp A, Brugman F, Scheffer H, et al. ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes. J Neurol. 2013;260:869-75 pubmed publisher
    ..In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families...
  22. Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011;32:1118-27 pubmed publisher
    ..Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31...
  23. Dohrn M, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, et al. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017;143:507-522 pubmed publisher
    ..NDRG1, TTR, EGR2, FIG4, GDAP1, LMNA, LRSAM1, POLG, TRPV4, AARS, BIC2, DHTKD1, FGD4, HK1, INF2, KIF5A, PDK3, REEP1, SBF1, SBF2, SCN9A, and SPTLC2 with a declining frequency...
  24. Chang J, Lee S, Blackstone C. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. Proc Natl Acad Sci U S A. 2013;110:14954-9 pubmed publisher
    ..formation: atlastin-1 (SPG3A), spastin (SPG4), reticulon 2 (SPG12), and receptor expression-enhancing protein 1 (SPG31)...
  25. Beetz C, Pieber T, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012;91:139-45 pubmed publisher
    ..e., a splice-site alteration in REEP1 (c.304-2A>G)...
  26. Du J, Shen L, Zhao G, Wang Y, Liao S, Chen C, et al. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. Chin Med J (Engl). 2009;122:2064-6 pubmed
  27. Bock A, Günther S, Mohr J, Goldberg L, Jahic A, Klisch C, et al. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif. Hum Mutat. 2017;: pubmed publisher
    ..affecting sensory neurons as well as lower motor neurons, we identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic ..
  28. Clark A, Metherell L, Cheetham M, Huebner A. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab. 2005;16:451-7 pubmed
    ..Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways. ..
  29. Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, et al. Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. Hum Mol Genet. 2016;25:5111-5125 pubmed publisher
    ..autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins...
  30. Stevens S, Blom E, Siegelaer I, Smeets E. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. Eur J Hum Genet. 2015;23:543-6 pubmed publisher
    ..Their phenotype matches with that of previously described patients. The 2p11.2-2p12 deletion includes the REEP1 gene that is associated with spastic paraplegia and phenotypic features related to this are apparent in most 2p11...
  31. McCorquodale D, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, et al. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet. 2011;79:523-30 pubmed publisher
    ..Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal-dominant HSP and currently guide the molecular diagnosis of ..
  32. Tzschach A, Graul Neumann L, Konrat K, Richter R, Ebert G, Ullmann R, et al. Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. Am J Med Genet A. 2009;149A:242-5 pubmed publisher
    ..Among the 40 known genes deleted in our patient is REEP1, haploinsufficiency of which causes autosomal dominant spastic paraplegia type 31 (SPG31, OMIM 610250)...
  33. Hurt C, Björk S, Ho V, Gilsbach R, Hein L, Angelotti T. REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues. Brain Res. 2014;1545:12-22 pubmed publisher
    ..Interestingly, REEP1 mutations have been linked to neurodegenerative disorders of upper and lower motor neurons, hereditary spastic ..
  34. Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, et al. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009;10:105-10 pubmed publisher
    ..Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP ..
  35. Zhao G, Hu Z, Shen L, Jiang H, Ren Z, Liu X, et al. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin Med J (Engl). 2008;121:430-4 pubmed
    ..The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis...