REEP1

Protein-coding gene in the species Homo sapiens
REEP1
Identifiers
AliasesREEP1, C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1
External IDsOMIM: 609139; MGI: 1098827; HomoloGene: 41504; GeneCards: REEP1; OMA:REEP1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for REEP1
Genomic location for REEP1
Band2p11.2Start86,213,993 bp[1]
End86,338,083 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for REEP1
Genomic location for REEP1
Band6 C1|6 32.2 cMStart71,684,545 bp[2]
End71,787,694 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 71.68 – 71.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000068615 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ "Entrez Gene: REEP1 receptor accessory protein 1".
  8. ^ "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.


  • v
  • t
  • e