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Receptor accessory protein 1

SPG31, REEP1, Receptor expression-enhancing protein 1, receptor accessory protein Toll, MC2 receptor accessory protein
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: SPG3A, spastin, KIF5B, HAD, AGE
Papers on SPG31
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
New
Bedeschi et al., Milano, Italy. In Eur J Med Genet, Jan 2016
The common deleted region involves several genes (CTNNA2, LRRTM1, REEP1), highly expressed in the nervous system.
Adrenocorticotropic Hormone (ACTH) Responses Require Actions of the Melanocortin-2 Receptor Accessory Protein on the Extracellular Surface of the Plasma Membrane.
New
Hinkle et al., Rochester, United States. In J Biol Chem, Dec 2015
The MC2 receptor acts in concert with the MC2 receptor accessory protein (MRAP) that is absolutely required for ACTH binding and signaling.
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
New
Golden et al., Boston, United States. In Ann Neurol, Nov 2015
OBJECTIVE: Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs).
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Review
New
Baas et al., Philadelphia, United States. In Brain, Sep 2015
M1, due to its hydrophobic N-terminal domain 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.
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
New
Lee et al., Pittsburgh, United States. In Mol Biol Cell, Jun 2015
The same variants were also capable of co-redistributing ER-localized REEP1, a recently identified function of atlastins that requires its catalytic activity.
Functional screening in Drosophila reveals the conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates.
Feiguin et al., Trieste, Italy. In Hum Mol Genet, 2015
We found that the downregulation of the Drosophila REEP1 homolog protein enhanced Tau toxicity with increased formation of insoluble aggregates.
[Japan Spastic Paraplegia Research Consortium (JASPAC)].
Takiyama, Japan. In Brain Nerve, 2014
We are now performing molecular testing of the HSP patients using Sanger sequencing (SPG4, SPG11, SPG31, and ARSACS), comparative genomic hybridization (CGH) array (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 15, 17, 20, 21, 31, 33, 39, 42, ABCD1, alsin, and ARSACS), and resequencing microarray (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 17, 20, 21, 31, 33, and ABCD1).
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
Kim et al., Yangsan, South Korea. In J Clin Neurol, 2014
Mutations in the atlastin-1 gene (ATL1) and receptor expression-enhancing protein 1 gene (REEP1) are the second and third most common causes of AD-HSP, respectively.
[Hereditary spastic paraplegia: up to date].
Review
Takiyama, Japan. In Rinsho Shinkeigaku, 2013
In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%).
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
Lu et al., In Bmc Neurol, 2013
SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs.
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Shen et al., Changsha, China. In Neurodegener Dis, 2013
Next, mutations in NIPA1, KIF5A, REEP1 and SLC33A1 were detected in the negative patients.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Review
Fink, Ann Arbor, United States. In Acta Neuropathol, 2013
SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); (3) mitochondrial function (e.g.
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Review
Coutinho et al., Feira, Portugal. In Jama Neurol, 2013
Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to be the cause in half of the autosomal dominant HSPs (AD-HSPs).
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Review
Stevanin et al., Vienna, Austria. In J Neurol Sci, 2012
Among the AD-SPGs, 40-45% of patients carry mutations in the SPAST-gene (SPG4) and 10% in the ATL1-gene (SPG3), while the other 9 genes are more rarely involved (NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), RNT2 (SPG12), SPGD1 (SPG13), BSCL2 (SPG17), REEP1 (SPG31), ZFYVE27 (SPG33, debated), and SLC33A1 (SPG42, debated)).
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
GeneRIF
Auer-Grumbach et al., Jena, Germany. In Am J Hum Genet, 2012
Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
GeneRIF
Stevanin et al., Bordeaux, France. In Hum Mutat, 2011
Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
GeneRIF
Z├╝chner et al., Miami, United States. In Clin Genet, 2011
previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
GeneRIF
Blackstone et al., Bethesda, United States. In J Clin Invest, 2010
Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
GeneRIF
Tang et al., Changsha, China. In Chin Med J (engl), 2009
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
RTP family members induce functional expression of mammalian odorant receptors.
Impact
Matsunami et al., Durham, United States. In Cell, 2004
Similar although weaker effects were seen with a third protein, REEP1.
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