RP1

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.[5][6]

RP1
Identifiers
AliasesRP1, DCDC4A, Oretinitis pigmentosa 1 (autosomal dominant), axonemal microtubule associated, RP1 axonemal microtubule associated
External IDsOMIM: 603937 MGI: 1341105 HomoloGene: 4564 GeneCards: RP1
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q11.23-q12.1Start54,509,422 bp[1]
End54,871,720 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6101

19888

Ensembl

ENSG00000104237

ENSMUSG00000025900

UniProt

P56715

P56716

RefSeq (mRNA)

NM_006269

NM_001195662
NM_011283

RefSeq (protein)

NP_006260
NP_001362583

NP_001182591
NP_035413
NP_001357850

Location (UCSC)Chr 8: 54.51 – 54.87 MbChr 1: 4 – 4.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains that bind to microtubules and regulate microtubule polymerization. The encoded protein is a protein associated with the photoreceptor cell microtubules in the retina and is necessary for the correct stacking of outer segment disc. This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptor cells.[6]

History

Initially named "ORP1" for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'.

Clinical significance

Mutations in this gene cause autosomal dominant or autosomal recessive retinitis pigmentosa.[7][8][9][10][11] Transcript variants produced by alternative promoters and alternative splicing have been discovered that overlap with the current reference sequence and have multiple exons upstream and downstream of the current reference sequence. However, as of 2010, it is currently impossible to determine the biological effectiveness and full-length nature of certain variants.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000104237 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025900 - 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. Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP (Mar 1992). "Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8". Genomics. 11 (4): 857–69. doi:10.1016/0888-7543(91)90008-3. PMID 1783394.
  6. "RP1 axonemal microtubule associated".
  7. Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M (August 2020). "Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History". American Journal of Ophthalmology. doi:10.1016/j.ajo.2020.08.004. PMID 32795431.
  8. Ueno S, Koyanagi Y, Kominami T, Ito Y, Kawano K, Nishiguchi KM, Rivolta C, Nakazawa T, Sonoda KH, Terasaki H (September 2020). "Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants". Japanese Journal of Ophthalmology. 64 (5): 485–496. doi:10.1007/s10384-020-00752-1. PMID 32627106. S2CID 220351273.
  9. Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR (2003). "Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP". Advances in Experimental Medicine and Biology. 533: 1–11. doi:10.1007/978-1-4615-0067-4_1. ISBN 978-1-4613-4909-9. PMC 2583078. PMID 15180241.
  10. Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR (2006). "Genetic factors modifying clinical expression of autosomal dominant RP". Advances in Experimental Medicine and Biology. 572: 3–8. doi:10.1007/0-387-32442-9_1. ISBN 978-0-387-28464-4. PMC 2581449. PMID 17249547.
  11. Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP (January 2005). "Gene mutations in retinitis pigmentosa and their clinical implications". Clinica Chimica Acta; International Journal of Clinical Chemistry. 351 (1–2): 5–16. doi:10.1016/j.cccn.2004.08.004. PMID 15563868.

Further reading


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