REEP1

REEP1
Identifiers
Aliases	REEP1,C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1
External IDs	OMIM:609139;MGI:1098827;HomoloGene:41504;GeneCards:REEP1;OMA:REEP1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	86,338,083bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	71,787,694bp
RNA expressionpattern
	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
	; ;
	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 1is aproteinthat in humans is encoded by theREEP1gene.^[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

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000068615–Ensembl,May 2017
^^a ^b ^cGRCm38: 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".uniprot.org.Retrieved2023-07-08.

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.PMC139241.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.PMC528928.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.PMC1559498.PMID 16826527.

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

[refGRCm38Ensembl-2] 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".uniprot.org.Retrieved2023-07-08.

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Clinical significance

References

Further reading