REEP1

REEP1
Identifiers
Aliases	REEP1, C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1
External IDs	OMIM: 609139; MGI: 1098827; GeneCards: REEP1
Gene location (Human) Chr. Chromosome 2 (human) Band 2p11.2 Start 86,213,993 bp End 86,338,083 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 C1|6 32.2 cM Start 71,684,545 bp End 71,787,694 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia middle temporal gyrus pars compacta tail of epididymis pons superior vestibular nucleus pars reticulata orbitofrontal cortex lateral nuclear group of thalamus germinal epithelium Top expressed in medial dorsal nucleus medulla oblongata medial vestibular nucleus central gray substance of midbrain extensor digitorum longus muscle ventral tegmental area pons facial motor nucleus deep cerebellar nuclei medial geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule binding protein binding olfactory receptor binding Cellular component cytoplasm integral component of membrane endoplasmic reticulum membrane mitochondrial membranes mitochondrion endoplasmic reticulum membrane endoplasmic reticulum tubular network Biological process endoplasmic reticulum tubular network organization protein insertion into membrane regulation of intracellular transport Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 65055 52250 Ensembl ENSG00000068615 ENSMUSG00000052852 UniProt Q9H902 Q8BGH4 RefSeq (mRNA) NM_001164730 NM_001164731 NM_001164732 NM_022912 NM_001371279 NM_001371280 NM_178608 RefSeq (protein) NP_001158202 NP_001158203 NP_001158204 NP_075063 NP_001358208 NP_001358209 NP_848723 Location (UCSC) Chr 2: 86.21 – 86.34 Mb Chr 6: 71.68 – 71.79 Mb PubMed search
Wikidata
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Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.

Clinical significance

Mutations in REEP1 are known to cause the following conditions:

• Spastic paraplegia 31, autosomal dominant (SPG31);
• Neuronopathy, distal hereditary motor, 5B (HMN5B);
• Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
• Behrens M, Bartelt J, Reichling C, et al. (2006). "Members of RTP and REEP gene families influence functional bitter taste receptor expression". J. Biol. Chem. 281 (29): 20650–9. doi:10.1074/jbc.M513637200. PMID 16720576.
• Züchner S, Wang G, Tran-Viet KN, et al. (2006). "Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31". Am. J. Hum. Genet. 79 (2): 365–9. doi:10.1086/505361. PMC 1559498. PMID 16826527.