REEP1

REEP1

Identifiers

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
Band	2p11.2	End	86,338,083 bp

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)

Band	6 C1\|6 32.2 cM	Start	71,684,545 bp
Band	6 C1\|6 32.2 cM	End	71,787,694 bp

RNA expression pattern

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


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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


65055


52250


ENSG00000068615


ENSMUSG00000052852


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

View/Edit Human

View/Edit Mouse

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).

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.

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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.