REEP1

REEP1
Identifiers
Aliases	REEP1, C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1
External IDs	OMIM: 609139 MGI: 1098827 HomoloGene: 41504 GeneCards: REEP1
Gene location (Human)
Chr.	Chromosome 2 (human)
End	86,338,083 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	71,787,694 bp
RNA expression pattern
	Top expressed in
	spinal ganglia; ; middle temporal gyrus; ; pons; ; superior vestibular nucleus; ; orbitofrontal cortex; ; germinal epithelium; ; Brodmann area 23; ; postcentral gyrus; ; entorhinal cortex; ; superior frontal gyrus;
	Top expressed in
	medial dorsal nucleus; ; medulla oblongata; ; medial vestibular nucleus; ; extensor digitorum longus muscle; ; ventral tegmental area; ; pons; ; facial motor nucleus; ; medial geniculate nucleus; ; pontine nuclei; ; triceps brachii muscle;
	More reference expression data
	; ;
	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
	65055
	52250
	ENSG00000068615
	ENSMUSG00000052852
	Q9H902
	Q8BGH4
NM_001164730; NM_001164731; NM_001164732; NM_022912; NM_001371279;
	NM_001371280
	NM_178608
NP_001158202; NP_001158203; NP_001158204; NP_075063; NP_001358208;
	NP_001358209
	NP_848723
	Wikidata
View/Edit Human	View/Edit Mouse

Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.^[5]^[6]^[7]

Clinical significance

Mutations in REEP1 are known to cause the following conditions:^[8]

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000068615 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052852 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Clark AJ, Metherell LA, Cheetham ME, Huebner A (Nov 2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends Endocrinol Metab. 16 (10): 451–7. doi:10.1016/j.tem.2005.10.006. PMID 16271481. S2CID 27450434.
↑ Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H (Nov 2004). "RTP family members induce functional expression of mammalian odorant receptors". Cell. 119 (5): 679–91. doi:10.1016/j.cell.2004.11.021. PMID 15550249. S2CID 13555927.
↑ "Entrez Gene: REEP1 receptor accessory protein 1".
↑ "UniProt". www.uniprot.org. Retrieved 2023-07-08.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000068615 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052852 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16271481-5] Clark AJ, Metherell LA, Cheetham ME, Huebner A (Nov 2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends Endocrinol Metab. 16 (10): 451–7. doi:10.1016/j.tem.2005.10.006. PMID 16271481. S2CID 27450434.

[pmid15550249-6] Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H (Nov 2004). "RTP family members induce functional expression of mammalian odorant receptors". Cell. 119 (5): 679–91. doi:10.1016/j.cell.2004.11.021. PMID 15550249. S2CID 13555927.

[entrez-7] "Entrez Gene: REEP1 receptor accessory protein 1".

[8] "UniProt". www.uniprot.org. Retrieved 2023-07-08.

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Clinical significance

References

Further reading